2 o f 4 2

C i r c u l a t i o n
I n t h e c i r c u l a t o r y s y s t e m a l l t h e p a r t i c l e s i t c o n t a i n s a r e t r a n s p o r t e d i n o n e d i r e c t i o n i n a p r o c e s s k n o w n a s m a s s f l o w .
p r o p e r t i e s o f w a t e r t h a t m a k e i t a g o o d t r a n s p o r t m e d i u m :
W a t e r i s a v e r y g o o d t r a n s p o r t m e d i u m .
W a t e r i s l i q u i d a t r o o m t e m p e r a t u r e .
T h e h y d r o g e n ' s i n t h e w a t e r p u s h a w a y f r o m e a c h o t h e r m a k i n g t h e m o l e c u l e V s h a p e d .
m a n y w a t e r m o l e c u l e s c a n b o n d t o g e t h e r f o r m i n g h y d r o g e n b o n d s , a s t h e n e g a t i v e l y c h a r g e d o x y g e n o f o n e
m o l e c u l e b o n d s t o t h e p o s i t i v e l y c h a r g e d h y d r o g e n o f a n o t h e r .
T h e h y d r o g e n b o n d i n g h o l d s t h e m t o g e t h e r a n d r e s u l t s i n m a n y o f t h e p r o p e r t i e s o f w a t e r .
M a n y c h e m i c a l s d i s s o l v e e a s i l y i n w a t e r .
P o l a r m o l e c u l e s ( h y d r o p h i l i c ) d i s s o l v e e a s i l y i n w a t e r .
N o n - p o l a r ( h y d r o p h o b i c ) s u b s t a n c e s , e . g . l i p i d s , d o n o t d i s s o l v e i n w a t e r .
W a t e r h a s a h i g h b o i l i n g p o i n t b e c a u s e t h e h y d r o g e n b o n d s r e q u i r e a l o t o f e n e r g y t o b r e a k a s t h e y a r e v e r y
s t r o n g .
1 of 42
Circulatory systems
Closed circulatory systems:
Blood leaves heart under pressure # arteries # arterioles # capillaries
Capillaries come in large numbers. They exchange substances between the blood and cells.
After passing through capillaries # blood goes back to the heart via venules # veins
Valves in the veins ensure that blood only flows in one direction.
Single circulatory system: (e.g. in fish)
Heart pumps deoxygenated blood # gills
Gaseous exchange (diffusion of CO2 from blood to H2O that surrounds the gills, and diffusion of O2 from H2O
into the blood)
Blood leaves gills # rest of body # heart
Double circulatory system:
Right ventricle pumps deoxygenated blood to the lungs where it receives oxygen.
The oxygenated blood then returns to the heart to be pumped a second time ( by the left ventricle) out to the
rest of the body.
4 o f 4 2
H o w d o e s b l o o d m o v e t h r o u g h t h e v e s s e l s ?
E v e r y t i m e t h e h e a r t c o n t r a c t s ( s y s t o l e ) b l o o d i s f o r c e d i n t o a r t e r i e s a n d t h e i r w a l l s s t r e t c h
t o a c c o m m o d a t e t h e b l o o d .
D u r i n g r e l a x a t i o n o f t h e h e a r t ( d i a s t o l e ) t h e e l a s t i c i t y o f t h e w a l l s c a u s e s t h e m t o r e c o i l
b e h i n d t h e b l o o d p u s h i n g t h e b l o o d f o r w a r d .
H o w t h e v a l v e s i n v e i n s w o r k :
B l o o d p a s s e s t h r o u g h t h e v e i n
s k e l e t a l m u s c l e s c o n t r a c t
c o n t r a c t i o n p u s h e s b l o o d f o r w a r d t o w a r d t h e h e a r t t h r o u g h t h e o p e n v a l v e s
v a l v e b e h i n d i s c l o s e d p r e v e n t i n g t h e b a c k - f l o w o f b l o o d
w h e n t h e b l o o d h a s p a s s e d t h r o u g h t h e o p e n v a l v e t h e m u s c l e s r e l a x
t h i s c a u s e s t h e v a l e s t o s h u t b e h i n d i t a g a i n p r e v e n t i n g b a c k - f l o w
T h e h e a r t n e e d s a c o n s t a n t s u p p l y o f b l o o d . T w o v e s s e l s c a l l e d t h e c o r o n a r y a r t e r i e s g i v e t h e
h e a r t w i t h a c o n s t a n t s u p p l y o f b l o o d .
3 of 42
The heart and blood vessels
The heart consists of:
Aorta (to body)
Pulmonary artery (to lungs)
Pulmonary veins (from lungs)
Left and right atrium
Left and right ventricle
Atrioventricular valves (separates the ventricles and atrium)
Semi-lunar valve (separates the ventricles from the aorta)
Inferior vena cava (from lower body)
Superior vena cava (from head and arms)
Arteries and veins:
Arteries: narrow lumen Veins: wide lumen
Arteries: thick walls Veins: thinner walls
Arteries: more collagen, elastic fibers and smooth muscle Veins: has less
Arteries: no valves Veins: have valves
Capillaries: Are only one cell think and join the small arteries (arterioles) and small veins (venules)
6 o f 4 2
H o w t h e h e a r t w o r k s c o n t i n u e d
P h a s e 3 : D i a s t o l e
A t r i a a n d v e n t r i c l e s r e l a x d u r i n g d i a s t o l e .
E l a s t i c r e c o i l l o w e r s p r e s s u r e i n t h e a t r i a a n d v e n t r i c l e s .
B l o o d u n d e r h i g h e r p r e s s u r e i n t h e a r t e r i e s i s d r a w n b a c k t o w a r d s t h e v e n t r i c l e s , c l o s i n g
t h e s e m i - l u n a r v a l v e s .
T h e c o r o n a r y a r t e r i e s f i l l d u r i n g d i a s t o l e .
L o w p r e s s u r e i n t h e a t r i a h e l p s d r a w b l o o d i n t o t h e h e a r t f r o m t h e v e i n s .
C l o s i n g t h e a t r i o v e n t r i c u l a r v a l v e s a n d t h e n t h e s e m i - l u n a r v a l v e s c r e a t e s t h e c h a r a c t e r i s t i c s o u n d s
o f t h e h e a r t .
5 of 42
How the heart works
The four chambers of the heart are continually and relaxing in a sequence known as the cardiac
cycle. Contraction of a chamber is systole and relaxation diastole.
Phase 1: Atrial systole
blood under low pressure flows into the left and right atria from the pulmonary veins and
vena cava.
as atria fill pressure against atrioventricular valves pushes them open and blood starts
leaking into the ventricles.
the atria walls then contract forcing more blood into the ventricles.
Phase 2: Ventricular systole
Ventricles contract from base upwards increasing the pressure.
this pushes blood up and out through the arteries.
the pressure of blood against the atrioventricular valves closes them and prevents and
prevents back-flow into the atria.
8 o f 4 2
B l o o d c l o t
W h e n b l o o d v e s s e l w a l l s a r e d a m a g e d a b l o o d c l o t i s l i k e l y t o f o r m .
P l a t e l e t s c o m e i n t o c o n t a c t w i t h v e s s e l w a l l a n d c h a n g e f r o m f l a t d i s c s t o s p h e r e s w i t h
l o n g t h i n p r o j e c t i o n s .
t h i s c h a n g e c a u s e s t h e m t o s t i c k t o t h e e x p o s e d c o l l a g e n i n t h e w a l l a n d e a c h o t h e r a n d
f r o m a t e m p o r a r y p l a t e l e t p l u g .
t h e y a l s o r e l e a s e s u b s t a n c e s t h a t a c t i v a t e m o r e p l a t e l e t s
t h e c o n t a c t o f b l o o d w i t h c o l l a g e n c a u s e s c h e m i c a l c h a n g e s i n t h e b l o o d :
S o l u b l e p l a s m a p r o t e i n p r o t h r o m b i n
C o n v e r t e d i n t o t h r o m b i n a n e n z y m e
t h r o m b i n c a t a l y s e s t h e c o n v e r s i o n o f a n o t h e r s o l u b l e p l a s m a p r o t e i n c a l l e d
F i b r i n o g e n
i n t o l o n g i n s o l u b l e s t r a n d s o f t h e p r o t e i n f i b r i n
T h e f i b r i n s t r a n d s f r o m a m e s h t h a t t r a p s b l o o d c e l l s t o f o r m t h e c l o t .
A n e u r y s m s c a n a l s o f o r m w h i c h a r e a b u i l d u p o f b l o o d b e h i n d a n a r r o w e d p a r t o f a n a r t e r y .
7 of 42
What is atherosclerosis?
Atherosclerosis can lead to coronary heart disease and strokes. It does this by blocking an artery
with fatty deposits .
Stages of atherosclerosis:
Endothelium becomes damaged (e.g. due to high blood pressure, or cigarette smoke)
Damage causes inflammatory response. White blood cells move into the artery wall, they
accumulate chemicals from the blood (cholesterol)
A deposit then builds up called an atheroma
Calcium salts and fibrous tissue build up at site and form a hard swelling (plaque)
This makes the artery lose some of its elasticity (hardens)
It also causes the artery to narrow
This makes it difficult for the heart to pump blood around the body and results in high
blood pressure
Positive feedback builds up as the increased blood pressure makes it more likely that more
plaques will form.
1 0 o f 4 2
I d e n t i f y i n g r i s k f a c t o r s f o r C V D c o n t i n u e d
R i c k f a c t o r s t h a t i n c r e a s e t h e c h a n c e o f g e t t i n g C V D :
H i g h b l o o d p r e s s u r e
O b e s i t y
B l o o d c h o l e s t e r o l a n d o t h e r d i e t a r y f a c t o r s
S m o k i n g
G e n e t i c i n h e r i t a n c e
T h e r i s k o f C V D i s h i g h e r f o r m e n t h a n w o m e n i n t h e U K .
T h e r i s k o f g e t t i n g C V D a l s o i n c r e a s e s w i t h a g e .
H i g h b l o o d p r e s s u r e : ( h y p e r t e n s i o n )
b l o o d p r e s s u r e i s m e a s u r e d b y u s i n g a s p h y g m o m a n o m e t e r , i t m e a s u r e s t h e s y s t o l i c p r e s s u r e
a n d t h e d i a s t o l i c p r e s s u r e i n t h e a r t e r i e s .
i t i s s h o w n b y p l a c i n g s y s t o l i c p r e s s u r e o v e r d i a s t o l i c p r e s s u r e . I n a h e a l t h y p e r s o n a s y s t o l i c
p r e s s u r e o f b e t w e e n 1 0 0 a n d 1 4 0 i s e x p e c t e d a n d a d i a s t o l i c p r e s s u r e b e t w e e n 6 0 a n d 9 0 .
9 of 42
Identifying risk factors for CVD
Large-scale studies have been undertaken to find the risk factors for many common diseases
including cardiovascular disease.
There are two common studies:
Cohort study - a group of people are followed over time to see who develops the disease
Case-control studies - a group of people who have the disease are compared with a group who
do not have the disease
Features of a good study:
clear aim
representative sample
valid and reliable results
1 2 o f 4 2
S t a r c h , g l y c o g e n a n d c e l l u l o s e
S t a r c h i s m a d e u p o f a m i x t u r e o f t w o m o l e c u l e s , a m y l o s e a n d a m y l o p e c t i n . S t a r c h i s a m a j o r s o u r c e o f e n e r g y a n d i s
f o u n d i n m a n y f o o d s s u c h a s f r u i t a n d v e g e t a b l e s .
A m y l o s e :
s t r a i g h t c h a i n b e t w e e n 2 0 0 a n d 5 0 0 g l u c o s e m o l e c u l e s i n l e n g t h
1 , 4 g l y c o s i d i c l i n k s b e t w e e n a d j a c e n t g l u c o s e m o l e c u l e s
c h a i n i s c o i l e d i n t o a s p i r a l s h a p e
A m y l o p e c t i n :
p o l y m e r o f g l u c o s e w i t h s i d e b r a n c h e s
1 , 6 g l y c o s i d i c l i n k s
h a s s i d e b r a n c h e s
C e l l u l o s e i s k n o w n a s d i e t a r y f i b r e . I t h a s a n i m p o r t a n t f u n c t i o n a s i t h e l p s t h e m o v e m e n t o f m a t e r i a l t h r o u g h t h e d i g e s t i v e
t r a c t .
G l y c o g e n i s s t o r e d b y b a c t e r i a , f u n g i a n d a n i m a l s . I t s s i d e b r a n c h e s m e a n t h a t i t c a n b e r a p i d l y h y d r o l y s e d g i v i n g e a s y
a c c e s s t o s t o r e d e n e r g y . ( H u m a n s s t o r e i n l i v e r a n d m u s c l e s )
11 of 42
Sugars
Mono-saccharides are single sugar units.
They can be joined in condensation reactions to form disaccharides which are made of two mono-saccharides.
They can also be joined together to form polysaccharides which contain three or more sugar units.
When two sugars join together via carbon 1 and carbon 4 on another a glycosidic bond is formed and produces water.
Sugars: (disaccharides)
Sucrose - (glucose + fructose) form in which sugar is transported in a plant
Maltose - (glucose + glucose) produced when amylase breaks down starch
Lactose - (galactose + glucose) the sugar found in milk
The glycosidic bond between the two sugars can be broken by hydrolysis, which is the addition of water.
There are three main polysaccharides that are found in food: starch and cellulose in plants, and glycogen in animals.
Starch and glycogen act as energy storage molecules within cells. They are suitable for storage because they are compact
molecules.
1 4 o f 4 2
T h e e n e r g y b a l a n c e
A c o n s t a n t s u p p l y o f e n e r g y i s n e e d e d t o m a i n t a i n y o u r e s s e n t i a l b o d y p r o c e s s e s ( e . g . p u m p i n g
t h e h e a r t ) . T h e a m o u n t o f e n e r g y n e e d e d f o r t h i s i s c a l l e d t h e b a s a l m e t a b o l i c r a t e ( B M R )
B M R i s h i g h e r i n :
M a l e s
H e a v i e r p e o p l e
Y o u n g e r p e o p l e
M o r e a c t i v e p e o p l e
B o d y m a s s i n d e x ( B M I ) i s a w a y o f c l a s s i f y i n g b o d y w e i g h t r e l a t i v e t o a p e r s o n s h e i g h t . A B M I o f
u n d e r 2 0 i s c o n s i d e r e d t o b e u n d e r w e i g h t , a B M I o f o v e r 4 0 i s c o n s i d e r e d t o b e s e v e r e l y o b e s e .
C a l c u l a t i n g B M I :
B M I = w e i g h t i n k g / h e i g h t i n m
13 of 42
Lipids
Lipids enhance the flavour and palatability of food.
They are insoluble in water but soluble in organic solvents such as ethanol.
The most common lipids we eat are triglycerides:
used as energy stores in plants and animals
they are made up of three fatty acids and one glycerol molecule
these are linked together by condensation reactions
the bond that forms between them is called an ester bond
three ester bonds are formed in a triglyceride
Saturated fats: if the fatty acid chains in a lipid contain the maximum number of hydrogen atoms
they are saturated. There are also no double bonds.
Unsaturated fats: Monounsaturated fats have one double bond between two of the carbon atoms
in the chain. Polyunsaturated have a larger number of double bonds.
Another lipid is cholesterol which is essential for good health, although too much of it can lead to
a high blood cholesterol level and can be bad for us.
1 6 o f 4 2
S m o k i n g a n d i n a c t i v i t y
S m o k e a f f e c t s t h e c i r c u l a t o r y s y s t e m i n t h e f o l l o w i n g w a y s :
T h e h a e m o g l o b i n i n t h e r e d b l o o d c e l l s c a r r i e s c a r b o n m o n o x i d e i n s t e a d o f o x y g e n ,
r e d u c i n g t h e a m o u n t o f o x y g e n t h a t g e t s t o t h e c e l l s
N i c o t i n e i n s m o k e s t i m u l a t e s t h e p r o d u c t i o n o f t h e h o r m o n e a d r e n a l i n e . T h i s h o r m o n e
c a u s e s a n i n c r e a s e i n h e a r t r a t e a n d t h e a r t e r i e s a n d a r t e r i o l e s t o c o n s t r i c t .
t h e c h e m i c a l s t h a t a r e f o u n d i n s m o k e c a n c a u s e d a m a g e t o y h e l i n i n e o f t h e a r t e r i e s
s m o k i n g h a s a l s o b e e n l i n k e d w i t h a r e d u c t i o n i n H D L c h o l e s t e r o l l e v e l s
I n a c t i v i t y c a n a l s o i n c r e a s e t h e c h a n c e s o f g e t t i n g C V D :
a s i n c r e a s e d e x e r c i s e c a n h e l p p r e v e n t h i g h b l o o d p r e s s u r e a n d c a n a l s o h e l p l o w e r i t
I t r a i s e s H D L c h o l e s t e r o l l e v e l w i t h o u t a f f e c t i n g t h e L D L l e v e l s
c a n h e l p y o u s u r v i v e a s t r o k e o r h e a r t a t t a c k
15 of 42
Cholesterol
Cholesterol is not soluble in water. To be transported in the bloodstream it is combined with proteins to form soluble
lipoproteins.
There are two main types of lipoprotein these are:
Low density lipoprotein (LDL's):
main cholesterol carrier in the blood
triglycerides from saturated fats in our diet combine with the cholesterol and protein to form LDL's
they circulate in the blood stream and bind to receptor sites on cell membranes
they are consist of more cholesterol than protein
High density lipoproteins (HDL's):
are made of more protein than cholesterol hence the high density
are made when tryglycerides fro unsaturated fats combine with cholesterol and protien
they transport cholesterol from the body tissues to the liver where it is broken down
it helps lower blood cholesterol and helps remove plagues in arteries
1 8 o f 4 2
O t h e r r i s k f a c t o r s f o r C V D
T h e r o l e o f a n t i o x i d a n t s :
h i g h l e v e l s o f a n t i o x i d a n t s p r o t e c t a g a i n s t h e a r t d i s e a s e .
S a l t :
t o o m u c h s a l t c a n c a u s e t h e k i d n e y s t o r e t a i n w a t e r . h i g h e r f l u i d l e v e l s i n t h e b l o o d r e s u l t i n e l e v a t e d
b l o o d p r e s s u r e .
S t r e s s :
i n s t r e s s f u l s i t u a t i o n s t h e r e l e a s e o f a d r e n a l i n e c a u s e s a r t e r i e s a n d a r t e r i o l e s t o c o n s t r i c t r e s u l t i n g
i n r a i s e d b l o o d p r e s s u r e
A l c o h o l :
h e a v y d r i n k i n g r a i s e s b l o o d p r e s s u r e , c o n t r i b u t e s t o o b e s i t y , a n d c a n c a u s e a n i r r e g u l a r h e a r t b e a t .
17 of 42
Apolipoprotein
Apolipoproteins are the protein component of lipoproteins (found in liver and intestines) there are several types of
Apolipoproteins:
Apolipoprotein A (APOA):
main protein in HDL that helps remove cholesterol into the liver for excretion
mutations in apoA gene result in low HDL levels and reduced removal of cholesterol from the blood
Apolipoprotein B (APOB):
main protein in LDL that transfers cholesterol from blood to cells
mutations in apoB gene cause higher levels of LDL in the blood
Apolipoprotein E (APOE):
main component of HDL's and very low density lipoproteins (VLDL's)
involved in removal of excess cholesterol from lipoproteins from the blood to the liver
aopE has three common alleles that produce three forms of the protein, E2, E3, and E4
APEO4 slows removal of cholesterol from the blood
2 0 o f 4 2
C h a n g i n g d i e t t o r e d u c e t h e r i s k o f C V D
T h i s w o u l d i n c l u d e :
E n e r g y b a l a n c e d
R e d u c e d s a t u r a t e d f a t
M o r e p o l y u n s a t u r a t e d f a t s
R e d u c e d c h o l e s t e r o l
R e d u c e d s a l t
M o r e n o n - s t a r c h p o l y s a c c h a r i d e s ( p e c t i n s a n d g u a r g u m )
O i l y f i s h ( c o n t a i n o m e g a - 3 f a t t y a c i d s )
M o r e f r u i t a n d v e g e t a b l e s ( c o n t a i n a n t i o x i d a n t s )
I n c l u d e f u n c t i o n a l f o o d s c o n t a i n i n g s t e r o l s a n d s t a n o l s
A n t i c o a g u l a n t a n d p l a t e l e t i n h i b i t o r y d r u g t r e a t m e n t :
T h e t e n a n c y f o r p l a t e l e t a g g r e g a t i o n a n d c l o t t i n g i s r e d u c e d b y p l a t e l e t i n h i b i t o r y d r u g s a n d
a n t i c o a g u l a n t d r u g s .
19 of 42
Reducing the risk of CVD
The risk of getting CVD can be reduced by:
stopping smoking
maintaining a blood pressure below 140/85 mmHg
maintaining a low blood cholesterol level
maintaining a normal BMI/ low waist-to-hip ratio
taking more exercise
moderate use of alcohol
Ways of controlling blood pressure:
ACE inhibitors
calcium channel blockers
Diuretics
Reducing blood cholesterol levels:
Mainly the drug statins are used. They inhibit an enzyme involved in the production of LDL
cholesterol.
2 2 o f 4 2
G a s e x c h a n g e
F e a t u r e s o f a g o o d g a s e x c h a n g e s u r f a c e :
l a r g e s u r f a c e a r e a f o r t h e a l v e o l i
n u m e r o u s c a p i l l a r i e s a r o u n d t h e a l v e o l i
t h i n w a l l s o f t h e a l v i o l i a n d c a p i l l a r i e s m e a n i n g a s h o r t d i s t a n c e b e t w e e n t h e a l v e o l a r a i r
a n d t h e b l o o d i n t h e c a p i l l a r i e s
T h e r a t e o f d i f f u s i o n d e p e n d s o n :
s u r f a c e a r e a - r a t e o f d i f f u s i o n i s d i r e c t l y p r o p o r t i o n a l t o t h e s u r f a c e a r e a
c o n c e n t r a t i o n g r a d i e n t - r a t e o f d i f f u s i o n i s d i r e c t l y p r o p o r t i o n a l t o t h e d i f f e r e n c e i n
c o n c e n t r a t i o n a c r o s s t h e g a s e x c h a n g e s u r f a c e .
t h i c k n e s s o f t h e g a s e x c h a n g e s u r f a c e - t h e r a t e o f d i f f u s i o n i s i n v e r s e l y p r o p o r t i o n a l
t o t h e t h i c k n e s s o f t h e g a s e x c h a n g e s u r f a c e . ( t h e t h i c k e r t h e s u r f a c e t h e s l o w e r t h e r a t e
o f d i f f u s i o n )
21 of 42
Cystic fibrosis (CF)
CF problems:
CF is caused by a faulty transport protein in the surface membranes of epithelial cells
CF creates a sticky mucus layer that lines the tubes and ducts in the gas exchange,
digestive and reproductive systems.
The sticky mucus increases the chances of lung infection and makes gas exchange less
efficient.
microorganisms become trapped in the sticky mucus causing illness
cilia cannot move the mucus because it is too sticky
low levels of oxygen in the mucus so harmful bacteria can live in these conditions
gasses such as oxygen cross the walls of the alveoli into the blood system by diffusion,
the sticky mucus makes it harder for diffusion to take place
2 4 o f 4 2
P r o t e i n s
P r o t e i n s a r e d i v i d e d i n t o t w o g r o u p s :
g l o b u l a r p r o t e i n s
f i b r o u s p r o t e i n s
G l o b u l a r p r o t e i n s :
f o l d e d i n t o a c o m p a c t s p h e r i c a l s h a p e
s o l u b l e b e c a u s e o f h y d r o p h i l i c s i d e c h a i n s t h a t a r e o n t h e o u t s i d e o f t h e m
e n z y m e s a r e g l o b u l a r p r o t e i n s
t h e i r t h r e e - d i m e n s i o n a l s h a p e i s c r i t i c a l t o t h e i r r o l e s i n b i n d i n g t o o t h e r s u b s t a n c e s
e . g . o f a g l o b u l a r p r o t e i n i s t r a n s p o r t p r o t e i n s w i t h i n m e m b r a n e s
F i b r o u s p r o t e i n s :
a r e l o n g c h a i n s
s e v e r a l p o l y p e p t i d e c h a i n s c a n b e c r o s s l i n k e d f o r a d d i t i o n a l s t r e n g t h
t h e y a r e i n s o l u b l e
e . g . o f a f i b r o u s p r o t e i n i s k e r a t i n f o u n d i n t h e h a i r a n d s k i n
23 of 42
Why is CF mucus so sticky?
The mucus on the surface of the epithelial cells is sticky because it contains less water than normal.
Protein structure is key in protein function:
Amino acids consist of an amine group, a carboxylic acid group,
Primary structure - Two amino acids join in a condensation reaction to form a dipeptide (this can
be more than two amino acids in length and they are joined by a peptide bond)
Secondary structure - The chain of amino acids twist to form an alpha-helix, hydrogen bonds
form between the C=O of the carboxylic acid and the -NH of the amine group of different amino
acids. Several chains my link together forming a beta-pleated sheet.
Tertiary and quaternary structure - a polypeptide chain bends and folds to produce a three
dimensional shape (maintained by interactions between R groups)
A protein may be made up of several polypeptide chains held together this is known as the
quaternary structure.
2 6 o f 4 2
F l u i d m o s a i c m o d e l
T h e c e l l s u r f a c e m e m b r a n e c o n s i s t s o f :
P h o s p h o l i p i d b i l a y e r ( a l l t h e m o l e c u l e s a r e a r r a n g e d s o t h a t t h e h y d r o p h o b i c t a i l s a r e i n s i d e
t h e b i l a y e r )
p r o t e i n s
c h o l e s t e r o l
g l y c o p r o t e i n s ( p r o t e i n m o l e c u l e s w i t h p o l y s a c c h a r i d e s a t t a c h e d )
g l y c o l i p i d s ( l i p i d m o l e c u l e s w i t h p o l y s a c c h a r i d e s a t t a c h e d )
C h a n n e l p r o t e i n s
W h y i s i t c a l l e d t h e f l u i d m o s a i c m o d e l ? :
T h e p l a s m a m e m b r a n e i s d e s c r i b e d t o b e f l u i d b e c a u s e o f t h e l i p i d s a n d m e m b r a n e p r o t e i n s t h a t
c a n m o v e f r e e l y .
T h e m e m b r a n e i s c a l l e d m o s a i c b e c a u s e l i k e a m o s a i c t h a t i s m a d e u p o f m a n y d i f f e r e n t p a r t s
s o i s t h e p l a s m a m e m b r a n e .
25 of 42
Cell membrane structure
Phospholipid bilayer:
The cell surface membrane consists of a bilayer that contains two layers of phospholipids.
In a phospholipid there are two fatty acids and a negatively charged phosphate group.
the phosphate head of he molecule is polar one end is slightly positive and the other
negative
so this makes the phosphate head attract other polar molecules like water so it is
hydrophilic
fatty acid tails are non-polar so they are hydrophobic
Cells are filled with watery cytoplasm and are surrounded by aqueous tissue fluid. so the
phospholipids form a bilayer. This stops the hydrophobic fatty acids tails from being in contact with
the water on both sides of the membrane and ensures that the hydrophilic phosphate heads are
in contact with the water.
2 8 o f 4 2
T r a n s p o r t a c r o s s t h e c e l l m e m b r a n e
D i f f u s i o n :
H i g h t o l o w c o n c e n t r a t i o n u n t i l e q u i l i b r i u m r e a c h e d
h y d r o p h o b i c ( l i p i d - s o l u b l e ) o r s m a l l u n c h a r g e d m o l e c u l e s
t h r o u g h p h o s p h o l i p i d b i l a y e r
p a s s i v e , n o e n e r g y r e q u i r e d
F a c i l i t a t e d d i f f u s i o n :
h i g h t o l o w c o n c e n t r a t i o n u n t i l e q u i l i b r i u m r e a c h e d
h y d r o p h i l o i c m o l e c u l e s o r i o n s
t h r o u g h c h a n n e l p r o t e i n s o r v i a c a r r i e r p r o t e i n s t h a t c h a n g e s h a p e
p a s s i v e , n o e n e r g y r e q u i r e d
O s m o s i s :
a t y p e o f d i f f u s i o n i n v o l v i n g m o v e m e n t o f f r e e w a t e r m o l e c u l e s
h i g h t o l o w c o n c e n t r a t i o n o f f r e e w a t e r m o l e c u l e s u n t i l l e q u l i b r i u m r e a c h e d
t h r o u g h p h o s p h o l i p i d b i l a y e r
p a s s i v e , n o e n e r g y r e q u i r e d
27 of 42
How do substances pass through cell membranes?
Molecules and ions move across membranes by:
diffusion
osmosis
active transport
exocytosis
endocytosis
Diffusion: (or passive transport)
Diffusion is the net movement of molecules from a region where they are at a higher concentration to a region of their lower
concentration. (diffusion continues until equilibrium)
Faciliated diffusion:
Is when molecules and ions that are larger than carbon dioxide cross the membrane with the aid of proteins. They diffuse
through water-filled pores within channel proteins.
Some proteins that help in this are called carrier proteins, the ion or molecule binds onto a specific site on the protein, the
protein changes shape and then the ion or molecvule can cross the membrane.
3 0 o f 4 2
R e g u l a t i n g w a t e r i n t h e m u c u s i n a f f e c t e d l u n g s
W i t h e x c e s s w a t e r :
N a + i s a c t i v e l y p u m p e d a c r o s s t h e b a s a l m e m b r a n e
N a + d i f f u s e s t h r o u g h s o d i u m c h a n n e l s i n t h e a p i c a l m e m b r a n e
C l - d i f f u s e s d o w n e l e c t r i c a l g r a d i e n t
w a t e r i s d r a w n o u t o f c e l l s b y o s m o s i s d u e t o t h e h i g h s a l t c o n c e n t r a t i o n i n t h e t i s s u e f l u i d
w a t e r i s d r a w n o u t o f t h e m u c u s b y o s m o s i s
W i t h t o o l i t t l e w a t e r :
C l - s p u m p e d i n t o t h e c e l l a c r o s s t h e b a s a l m e m b r a n e
C l - d i f f u s e s t h r o u g h t h e o p e n C F T R c h a n n e l s
N a + d i f f u s e s d o w n t h e e l e c t r i c a l g r a d i e n t i n t o t h e m u c u s
e l e v a t e d s a l t c o n c e n t r a t i o n i n t h e m u c u s d r a w s w a t e r o u t o f t h e c e l l b y o s m o s i s
w a t e r i s d r a w n o u t o f t h e c e l l b y o s m o s i s
W i t h C F : C T F R c h a n n e l i s a b s e n t o r n o t f u n c t i o n i n g , a n d t h e N a + c h a n n e l i s p e r m a n e n t l y o p e n , w a t e r i s c o n t i n u a l l y
r e m o v e d f r o m t h e m u c u s b y o s m o s i s .
29 of 42
Transport across the cell membrane
Active transport:
against a concentration gradient, low to high concentration
through carrier proteins that change shape
requires energy
Exocytosis:
used for bulk transport of substances out of the cell
vesicles fuse with the cell surface membrane, releasing their contents
Endocytosis:
used for bulk transport of substances into the cell
vesicles are created from the cell surface membrane, bringing their contents into the cell
3 2 o f 4 2
E n z y m e s
E n z y m e s a r e g l o b u l a r p r o t e i n s t h a t a c t a d b i o l o g i c a l c a t a l y s t s ( T h e y s p e e d u p c h e m i c a l r e a c t i o n s ) . T h e r e i s a d e p r e s s i o n
o n t h e s u r f a c e o f t h e e n z y m e m o l e c u l e c a l l e d t h e a c t i v e s i t e .
L o c k a n d K e y t h e o r y :
a m o l e c u l e w i t h a c o m p l i m e n t a r y s h a p e c a n f i t i n t o t h e a c t i v e s i t e
t h e s u b s t r a t e m o l e c u l e s f o r m t e m p o r a r y b o n d s w i t h t h e a m i n o a c i d s o f t h e a c t i v e s i t e t o p r o d u c e a n e n z y m e -
s u b s t r a t e c o m p l e x
t h e e n z y m e h o l d s t h e s u b s t r a t e m o l e c u l e s i n a w a y t h a t t h e y r e a c t m o r e e a s i l y
w h e n t h e r e a c t i o n i s f i n i s h e d t h e p r o d u c t s a r e r e l e a s e d , l e a v i n g t h e e n z y m e u n c h a n g e d
t h e s u b s t r a t e i s k n o w n a s t h e ' k e y ' w h i c h f i t s i n t o t h e e n z y m e s ' l o c k '
I n d u c e d f i t t h e o r y :
a c t i v e s i t e i s f l e x i b l e
w h e n t h e s u b s t r a t e e n t e r s t h e a c t i v e s i t e t h e e n z y m e m o l e c u l e c h a n g e s s h a p e s l i g h t l y f i t t i n g m o r e c l o s e l y r o u n d
t h e s u b s t r a t e
31 of 42
Effect of CF on digestive system
In a person with CF the pancreatic duct becomes blocked by sticky mucus, impairing the
release of digestive enzymes.
The lower concentration of enzymes within the small intestine reduces the rate of digestion.
Because of this the food is not fully digested and not all the nutrients can be absorbed
The pancreatic enzymes can also become trapped behind the mucus blocking the
pancreatic duct.
The enzymes damage the pancreas.
Damage to the cell walls in the pancreas that produce insulin, insulin is involved in the
control of blood sugar levels, a form of diabetes can be the result.
3 4 o f 4 2
T h e s t r u c t u r e o f D N A
G e n e a n d g e n o m e :
a g e n e i s a s e q u e n c e o f b a s e s o n a D N A m o l e c u l e c o d i n g f o r a s e q u e n c e o f a m i n o a c i d s i n a
p o l y p e p t i d e c h a i n . T o g e t h e r a l l g e n e s i n a i n d i v i d u a l a r e k n o w n a s t h e g e n o m e .
D N A i s a c h a i n o f n u c l e o t i d e s :
D N A i s o n e t y p e o f n u c l e i c a c i d , c a l l e d d e o x y r i b o n u c l e i c a c i d . I t i s a l o n g c h a i n m o l e c u l e m a d e u p
o f m a n y u n i t s c a l l e d n u c l e o t i d e s o r m o n o n u c l e o t i d e s
a m o n o n u c l e o t i d e c o n s i s t s o f :
a d e o x y r i b o s e s u g a r
a p h o s p h a t e
a b a s e
A m o n o n u c l e o t i d e c o n t a i n s t h r e e m o l e c u l e s l i n k e d t o g e t h e r b y c o n d e n s a t i o n r e a c t i o n s . T h e y l i n k
t o g e t h e r b y c o n d e n s a t i o n r e a c t i o n s b e t w e e n t h e s u g a r o f o n e a n d t h e p h o s p h a t e o f t h e n e x t .
33 of 42
Effect of CF on reproductive system
Females with CF:
have a reduced chance of becoming pregnant because a mucus plug develops in the
cervix this stops sperm from reaching the egg
Males with CF:
commonly lack the vas deferens (sperm duct) on both sides which means sperm cannot
leave the testes.
When the vas deferens is present it can become blocked by a thick sticky mucus layer,
which means fewer sperm are present in each ejaculate
3 6 o f 4 2
P r o t e i n s y n t h e s i s
T r a n s c r i p t i o n : ( i n t h e n u c l e u s )
D N A d o u b l e h e l i x u n w i n d s a n d h y d r o g e n b o n d s b r e a k
t h e t e m p l a t e s t r a n d i s u s e d i n t h e p r o d u c t i o n o f a m e s s e n g e r R N A m o l e c u l e
e v e r y t r i p l e t c o d e o n D N A g i v e s r i s e t o a c o m p l i m e n t a r y c o d o n o n m e s s e n g e r R N A
t h e c o m p l e t e d m e s s e n g e r R N A m o l e c u l e s n o w l e a v e s t h e n u c l e u s t h r o u g h a p o r e i n t h e
n u c l e a r e n v e l o p e
a n d e n t e r s t h e c y t o p l a s m
T r a n s l a t i o n : ( o n r i b o s o m e s )
r i b o s o m e s a r e s m a l l o r g a n e l l e s m a d e o f r i b o s o m a l R N A a n d p r o t e i n
r i b o s o m e s a r e f o u n d f r e e i n t h e c y t o p l a s m o r a t t a c h e d t o e n d o p l a s m i c r e t i c u l u m
a t r a n s f e r R N A m o l e c u l e c a r r y i n g a n a m i n o a c i d h a s t h r e e b a s e s c a l l e d a n a n t i c o d o n
t h e s e p a i r w i t h c o m p l i m e n t a r y b a s e s o n t h e m R N A c o d o n
t h e n t h e a m i n o a c i d s t h a t t h e t R N A c a r r y a r e j o i n e d b y p e p t i d e b o n d s
35 of 42
DNA
There are four bases:
adenine (A)
cytosine (C)
guanine (G)
thymine (T)
In DNA there are two long strands of nucleotides twisted around to form a double helix. The sugars and phosphates are
on the outside, and the bases point inwards and are held together by hydrogen bonds.
The bases pair up along the two nucleotides A pairs up with G and T with C.
The code carried by the DNA is a three-base or triplet code, each group of three bases codes for an amino acid there
are also start and stop signals.
DNA and RNA:
RNA has a single strand made of a string of RNA nucleotides.
RNA contains a ribose sugar instead of a deoxyribose sugar
In RNA U (uracil) replaces T (the RNA never contains thymine
3 8 o f 4 2
W h a t g o e s w r o n g w i t h D N A ?
M i s t a k e s i n r e p l i c a t i o n :
S o m e t i m e s D N A r e p l i c a t i o n d o e s n o t w o r k p r o p e r l y . A s t h e n e w s t r a n d o f D N A i s b e i n g b u i l t a n d
i n c o r r e c t b a s e m a y s l i p i n t o p l a c e .
S i c k l e c e l l a n e m i a :
m u t a t i o n i n t h e g e n e t h a t c o d e s f o r o n e o f t h e p o l y p e p t i d e c h a i n s i n h a e m o g l o b i n ( t h e p i g m e n t i n
r e d b l o o d c e l l s w h i c h c a r r i e s o x y g e n a r o u n d t h e b o d y .
T h e b a s e a d e n i n e r e p l a c e s t h y m i n e a t o n e p o s i t i o n a l o n g t h e c h a i n . A p r o t e i n v a l i n e i s m a d e
i n s t e a d o f g l u t a m i c a c i d . T h e r e d b l o o d c e l l s a r e d i s t o r t e d a n d t h e s i c k l e s h a p e d c e l l s c a r r y l e s s
o x y g e n a n d c a n b l o c k b l o o d v e s s e l s .
C y s t i c f i b r o s i s :
M u t a t i o n s a f f e c t C F T R p r o t e i n i n d i f f e r e n t w a y s .
37 of 42
DNA replication
When a cell divides an exact copy of the DNA must be produced so that each of the daughter cells
receives a copy This process of copying the DNA is called replication.
There are three possible ways DNA could replicate:
fragmentary replication - all DNA strands are made up of a mixture of original parent DNA
nucleotides and new nucleotides
conservative replication - one DNA molecule has two original parent DNA strands, the
other molecule has two new strands
semi conservative replication - each DNA molecule contains one original parent strand
and one new strand
If a test tube containing DNA dissolved in a special density gradient solution is centrifuged. Heavy
DNA containing N-15 sinks to the bottom, light DNA containing N-14 collects in a band near the
top and DNA of a medium density (containing heave and light nucleotides) is in the middle.
4 0 o f 4 2
T r e a t m e n t s f o r C F
M e d i c a t i o n :
B r o n c h o d i l a t o r s - i n h a l e d u s i n g a n e b u l i s e r . t h e d r u g s r e l a x t h e m u s c l e s i n t h e a i r w a y s o p e n i n g t h e m u p .
A n t i b i o t i c s - u s e d t o k i l l o r p r e v e n t g r o w t h o f b a c t e r i a i n t h e l u n g s
D N A a s e e n z y m e s - D N A a s e e n z y m e s c a n b e i n h a l e d u s i n g a n e b u l i s e r . T h e y b r e a k d o w n t h e D N A , s o t h e m u c u s
i s e a s i e r t o c l e a r f r o m t h e l u n g s .
S t e r o i d s - u s e d t o r e d u c e i n f l a m m a t i o n o f t h e l u n g s .
D i e t : e a t h i g h e n e r g y f o o d s , a n d d o u b l e t h e q u a n t i t y o f p r o t e i n c o m p a r e d t o p e o p l e w i t h o u t C F , a n d s a l t s u p p l e m e n t s .
D i g e s t i v e e n z y m e s u p p l e m e n t s : T a k i n g t h e s e w i t h f o o d h e l p s t o c o m p l e t e t h e p r o c e s s o f d i g e s t i o n .
P h y s i o t h e r a p y : R h y t h m i c a l t a p p i n g o f t h e w a l l s o f t h e c h e s t c a v i t y c a n h e l p l o o s e n t h e m u c u s a n d i m p r o v e t h e a i r f l o w
i n t o a n d o u t o f t h e l u n g s .
H e a r t a n d l u n g t r a n s p l a n t : i f t h e l u n g s b e c o m e b a d l y d a m a g e d t h e o n l y o p t i o n m y b e t o r e p l a c e t h e d a m a g e d l u n g s .
39 of 42
How genes are passed on
Genes and chromosome pairs:
Every cell contains two copies of each gene, one from each parent.We have 23 pairs of
chromosomes and the chromosomes in each pair are called homologous chromosomes. In each
pair one comes from the mother and one from the father.
Genotypes, phenotypes and alleles:
There is a normal allele which codes for the functioning CFTR protein (F). And there is a mutated
allele which produces a non-functional protein (f).
FF - a person with two identical copies of the normal allele does not have cystic fibrosis
ff - a person with two copies of the mutated allele has cystic fibrosis
Ff - a person with one normal allele and one mutated allele does not have cystic fibrosis but is a
carrier and could have children with the disease.
The alleles that a person has make up their genotype.
4 2 o f 4 2
T e s t i n g f o r C F
G e n e t i c t e s t i n g :
T h e D N A i s t e s t e d t o s e e w h e t h e r i t c o n t a i n s t h e k n o w n b a s e s e q u e n c e s f o r t h e m o s t c o m m o n
m u t a t i o n s t h a t c a u s e c y s t i c f i b r o s i s .
H o w c a n g e n e t i c s c r e e n i n g b e u s e d ? :
t o c o n f i r m a d i a g n o s i s
t o i d e n t i f y c a r r i e r s
f o r t e s t i n g e m b r y o s - a m n i o c e n t e s i s i n v o l v e s i n s e r t i n g a n e e d l e i n t o t h e a m n i o t i c f l u i d t o
c o l l e c t c e l l s t h a t h a v e f a l l e n o f t h e p l a c e n t a a n d f o e t u s
c h o r i o n i c v i l l u s s a m p l i n g - a s m a l l s a m p l e o f p l a c e n t a l t i s s u e i s r e m o v e d , e i t h e r t h r o u g h
t h e w a l l o f t h e a b d o m e n o r t h r o u g h t h e v a g i n a .
t e s t i n g b e f o r e i m p l a n t a t i o n - w h e n c a r r y i n g o u t i n v i t r o f e r t i l i s a t i o n i t i s p o s s i b l e t o t e s t a n
e m b r y o b e f o r e i t h a s i m p l a n t e d i n t h e u t e r u s . a c e l l c a n b e r e m o v e d f r o m a n e m b r y o , t h e
c e l l s c a n t h e n b e a n a l y s e d a n d u s e d t o d e c i d e w h e t h e r t o p l a c e t h e e m b r y o i n t o t h e w o m b .
41 of 42
Possible CF treatments for the future
In gene therapy the genotype and hence the phenotype of target cells is altered. This is done by:
inserting normal alleles of the gene into the target cells (by using either genetically modified virus to infect the
target or using liposomes
the normal form of the gene is transcribed and translated
a functioning protein is produced in the target cells
How genes are inserted using viruses:
the DNA sequence that allows it to replicate is removed
this is replaced with a normal allele of the desired gene
when the virus infects the desired target the viral DNA becomes incorporated into the patients own DNA
How genes are inserted using liposomes:
copy of the normal allele is inserted into a loop of DNA (plasmid)
the plasmid is then combines with liposomes
the positively charged head groups of the phospholipids combine with the DNA
the liposomes fuse with the epithelial cell membranes and carry the DNA to cells