Gas Exchange Cystic Fibrosis & Genetic Screening

1 of 28 © Boardworks Ltd 2008

Exchange surfaces
All organisms require nutrients and the ability to excrete
waste. Many simple organisms, such as bacteria and sea
anemones, can exchange substances directly across their
external surfaces.
Larger organisms require specialized
gas exchange and transport systems
to transport substances such as oxygen
and nutrients to their cells efficiently.
Fish exchange these substances across
gills, while insects have openings called
spiracles on their surfaces.
Crop
In mammals, gas exchange occurs photo
in the lungs, and in particular the
alveoli.
Internal
intercostal
External muscles
intercostal
muscles

Nose and Mouth
• Humans have exterior nostrils where air

enters through (as well as the mouth)
• Tiny hair follicles that cover the interior lining

of nostrils act as the body’s first line of
defence against foreign pathogens
• Pathogens are disease causing organisms

Trachea
• The trachea or the windpipe rises below the

larynx and moves down to the neck. The walls
of the trachea comprise C-shaped
cartilaginous rings which give hardness to the
trachea and maintain it by completely
expanding.
• The trachea extends further down into the
breastbone and splits into two bronchi, one for
each lung.

Bronchi
• The trachea splits into two tubes called the

bronchi, which enter each lung individually.
The bronchi divide into secondary and tertiary
bronchioles, and it further branches out into
bronchioles and then small air-sacs called the
alveoli.

Bronchioles
• The bronchioles carry oxygen rich air into

the lungs and carry carbon dioxide rich air
out of the lungs, thereby aiding in the
processes of breathing and respiration.
The smooth muscle that surround the
bronchioles can constrict or dilate the airway,
which can aid in getting the proper amount of
oxygen into the blood.

Diaphragm
• The diaphragm, located below the lungs. It is

a large, dome-shaped muscle that
contracts.
• Upon inhalation, the diaphragm contracts

and flattens and the chest cavity enlarges.
• Upon exhalation, the diaphragm relaxes

and returns to its domelike shape, and air
is forced out of the lungs.

Lungs
• Lungs are the primary organs of respiration in

humans and other vertebrates. They are
located on either side of the heart, in the
thoracic cavity of the chest.
• The primary function of the lungs is to facilitate

the exchange of gases between the blood and
the air. Interestingly, the right lung is quite
bigger and heavier than the left lung.

Alveoli
• The alveoli are single-celled sacs of air with

thin walls. It facilitates the exchange of oxygen
and carbon dioxide molecules into or away
from the bloodstream.
• The alveoli are where the lungs and the
blood exchange oxygen and carbon
dioxide during the process of breathing in
and breathing out.
• Oxygen breathed in from the air passes
through the alveoli and into the blood and
travels to the tissues throughout the body.

Inhalation
• Inspiration occurs when the diaphragm and
the external intercostal muscles contract.
• Ribcage moves up and out
• Volume of chest cavity increases.
• Pressure inside the lungs decreases and air
moves into the lungs

Expiration
• Expiration occurs when the diaphragm and
the external intercostal muscles relax.
• Ribcage moves down and inwards
• Volume of chest cavity decreases.
• Pressure inside the thorax increases and
air moves out of the lungs

Structure of the lungs

Maintaining the structure of the alveoli
During inhalation, the chest cavity increases in volume,
lowering the pressure in the lungs to draw in fresh air.
This decrease in pressure leads to a tendency for the lungs

to collapse. Cartilage keeps the trachea and bronchi open,
but the alveoli lack this structural support.
Lung surfactant is a alveoli

phospholipid that coats the
surfaces of the lungs.
Without it, the watery lining
of the alveoli would create a
surface tension, which would
cause them to alveoli surfactant
collapse.
Keeping the airways clear
The walls of the trachea
and bronchus contain
goblet cells, which
secrete mucus made of
mucin. This traps micro-
organisms and debris,
helping to keep the
airways clear.
The walls also contain ciliated epithelial cells, which are

covered on one surface with cilia. These beat regularly to
move micro-organisms and dust particles along with the
mucus. They contain many mitochondria to provide energy
for the beating cilia.

Structures of the human lung

Why do we breathe?
Animals need to maintain a concentration gradient across
their exchange surfaces so that oxygen will diffuse into the
blood and carbon dioxide will diffuse out.
Fish manage this by keeping a

continuous stream of oxygenated
water moving over their gills.
In animals such as mammals and
birds, a concentration gradient is
maintained in the alveoli by the
mechanism of Ventilation.
This allows the process of

Respiration to occur and keep
bodily cells alive
The pleural cavity
Each of the lungs is enclosed in a double membrane known
as the pleural membrane. The space between the two
membranes is called the pleural cavity, and is filled with a
small amount of pleural fluid.
lung
This fluid lubricates the
lungs.
pleural membranes
What allows a good blood supply?
• Many alveoli and

capillary to
increase surface
area
• Thin walls (one
cell thick)
• Good ventilation
(oxygen rich air)
• Good bloody
supply
• Steep
concentration
gradient
Haemoglobin
Haemoglobin is a protein making up 95% of the dry mass
of a red blood cell. It is the means of transport of oxygen
around the body.
Haemoglobin is made up of four polypeptide chains, each

bound to one haem group.
Each haem group can

combine with one oxygen
molecule, so that one
molecule of haemoglobin
can combine with a
maximum of four oxygen
molecules. This forms
oxyhaemoglobin.
polypeptide chain
How is oxygen concentration measured?
Oxygen binds to haemoglobin when oxygen is at a high
concentration, and dissociates from haemoglobin when
oxygen is at a low concentration.
The concentration of a gas in a mixture of gases can be

quantified in terms of its partial pressure.
Partial pressure is measured

in kilopascals (kPa) and is
written as P(O2), P(CO2), etc.

The oxygen dissociation curve

Foetal haemoglobin
The red blood cells in the foetal bloodstream contain a special
form of haemoglobin known as foetal haemoglobin.
Foetal haemoglobin foetal haemoglobin

has a higher affinity 100
90
for oxygen than adult
oxyhaemoglobin
80
(% saturation)
haemoglobin. 70 adult
60
This helps maximize 50 haemoglobin
oxygen uptake from 40
the mother’s blood 30
20
stream, which has 10
already lost some of its 0
oxygen by the time it 0 2 4 6 8 10 12 14
reaches the placenta. oxygen
partial pressure (kPa)
What is myoglobin?
Myoglobin is a molecule with a similar structure to
haemoglobin, but with only one haem group.
Myoglobin has a very myoglobin

high affinity for 100
90
oxyhaemoglobin
oxygen, even at very 80
(% saturation)
low partial pressures. 70 haemoglobin
60
This means 50
oxymyoglobin will only 40
30
dissociate when 20
oxygen levels are low. 10
It is found in muscle 0
cells, where it acts as 0 2 4 6 8 10 12 14
an oxygen reserve. oxygen
partial pressure (kPa)
Cystic Fibrosis
• Cystic fibrosis is a genetic disorder of cell
membranes caused by a recessive allele of
the CFTR (Cystic Fibrosis Transmembrane
Conductance Regulator) gene located on
chromosome 7
• This gene codes for the production of chloride

ion channels required for secretion of sweat,
mucus and digestive juices in cells
• As a result of this mucus builds up in the body

which is dangerous as CFTR is mutated and
chloride ions are absent
Cystic Fibrosis
• Chloride ions actively transported into the
epithelial cell that line the respiratory airways
• They move from the tissue fluid and through
the chloride pump
• This creates a concentration gradient between
the cell content and the fluid on the surface of
the lungs
• So now chloride ions diffuse out of the cell and
into the fluid by protein channels known as
CFTR.
• These need ATP to open but the actual
process is diffusion as ions are going from
high to low (down a concentration gradient)
Cystic Firbosis
• When CFTR is working it inhibits the sodium ions

from entering through the sodium channels – so this
increases sodium chloride in the fluid lining the
airways
• This allows water to move out to the liquid lining by
osmosis
• This water moving out mixes with the mucus which is
also produced by the epithelial cells
• Now the mucus is runny, its easier to be it can be
easily moved by the cilia
• So mutation of the CFTR gene will prevent
movement of chloride ions
Cystic Fibrosis
• So chloride builds up in the cell instead of

moving
• As a result of this water doesn’t also move out
of the cell towards the mucus
• So now mucus is thick and sticky and has built
up, due to this the cilia is unable to remove the
mucus so mucus remain in the airways
• People with cystic fibrosis look physically
normal/ fine but have internal sickness as
mucus is not being effectively removed

Cystic Fibrosis
• Mucus in the respiratory system is a necessary

part of keeping the lungs healthy
• It prevents infection by trapping microorganisms
• This mucus is moved out of the respiratory tract
by cilia
• In people with cystic fibrosis, due to the faulty
chloride ion channels, the cilia are unable to move
as the mucus is so thick and sticky
• This means microorganisms are not efficiently
removed from the lungs and can cause infections
• Mucus builds up in the lungs and can block
airways limiting gas exchange

Cystic Fibrosis
• This condition is life threatening and can cause
serious illness from those with the disease
• It can cause severe breathing/respiratory and
digestive problems (mucus can block digestive
organs e.g. pancreas – enzymes find it difficult to
breakdown food – limited nutrients being
absorbed & for the lungs diffusion of gas
exchange limited – less respiration – less energy)
• Can also cause infertility – mucus production can

block testes tubes & cervical lining decreasing
fertilization
• Also more salty sweat produced which can be a
sign that someone may have cystic fibrosis
• What are the respiratory problems caused
by Cystic Fibrosis? ( Include MO in answer)
• What are the Reproductive problems

(infertility) caused by Cystic Fibrosis?
• What are the Digestive problems caused by

Cystic Fibrosis?

Treating Cystic Fibrosis
• Physiotherapy: which allows the removal of sticky
mucus – done multiple times a day
• ‘’flutter’’ – a drainage system which works by
changing the pressure of the airways
• Diet and enzymes: most sufferers take enzymes to
replace the pancreatic enzymes so food can be
digested then absorbed
• Eat more and consume high energy foods
• Drug therapy: some sufferers take medicine to
improve their health and protect them from
symptoms
• This may include antibiotics, vaccines, mucolytics,
asthma drugs, insulin, enzymes to thin mucus
• Transplant surgery: for organs e.g. lungs/heart
• Infertility treatments: IVF can be done where sperm
and egg are fertilized outside the womb and then the
embryo is returned to the mother womb
• Gene therapy: this involves taking a copy of the healthy
gene and finding an effective way of inserting it into the
cell so that correct proteins can be produced
• Genetic engineering: this involves the manipulation of
bacteria using restriction endonuclease this is used to
cut the desired gene and will form production of sticky-
ends
• This is then inserted into the plasmid where a section is
also cut by the same enzyme. Ligase is used to stick
the sticky ends together. Recombinant DNA is marked
using specific marker genes so its easier to see when
put in the bacteria. This multiplies and more genes
made allowing production of healthy protein
• Somatic cells: any cell of a living
organism other than the reproductive
cells.
• Germ-line cells: The cells that
differentiate to form egg cells in
females and sperm in males. Germline
cells contain the genetic information that
is passed down from one generation to
the next.

Genetic screening
• Genetic screening is the process of

testing a population for a genetic disease
in order to identify a subgroup of people
that either have the disease or the
potential to pass it on to their offspring.
• It can improve people's chances of survival

and a better quality of life if they know they
have the gene for a disorder/disease

• Identifying carriers – if one member has Cystic
fibrosis other members can be offered genetic
testing to detect the faulty allele (gene) in a
carrier who has no symptoms
• Parental screening – can be done during
pregnancy to see whether the fetus has CF –
this can be rejected by parents due to ethical/
religious views. There are 2 types,
Amniocentesis (sampling amniotic fluid) and
Chorionic villus sampling (sampling embryonic
tissues while developing in the placenta)
• The risks for both may lead to abortion/
miscarriage
• Pre-implantation genetic diagnosis – this
involves genetic screening of embryos
before implantation in the uterus occurs
during IVF
• This can help parents who are carriers
avoid having a child with CF without going
through amniocentesis and chorionic villus
sampling
• IVF is done and the embryos are tested for
CF and then the embryos facing no
problems with CF are implanted into the
mother uterus
Social and ethical issues related to genetic
screening
• Some people agree and others disagree with

abortion
• Some agree both parent and child should not
suffer with burden and responsibilities of care
and constant medication
• Others rely on genetic screening so that they can
prepare for baby’s condition beforehand
• Others believe its okay if baby is only ’carrier’
• Genetic counsellors can be hired to help couples
understand what problems they or their child may
face regarding a particular genetic disease

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1 of 28 © Boardworks Ltd 2008

2 of 28 © Boardworks Ltd 2008

4 of 28 © Boardworks Ltd 2008

• Humans have exterior nostrils where air

• Tiny hair follicles that cover the interior lining

• Pathogens are disease causing organisms

6 of 28 © Boardworks Ltd 2008

• The trachea or the windpipe rises below the

7 of 28 © Boardworks Ltd 2008

• The trachea splits into two tubes called the

8 of 28 © Boardworks Ltd 2008

• The bronchioles carry oxygen rich air into

9 of 28 © Boardworks Ltd 2008

• The diaphragm, located below the lungs. It is

• Upon inhalation, the diaphragm contracts

• Upon exhalation, the diaphragm relaxes

10 of 28 © Boardworks Ltd 2008

• Lungs are the primary organs of respiration in

• The primary function of the lungs is to facilitate

11 of 28 © Boardworks Ltd 2008

• The alveoli are single-celled sacs of air with

12 of 28 © Boardworks Ltd 2008

14 of 28 © Boardworks Ltd 2008

15 of 28 © Boardworks Ltd 2008

16 of 28 © Boardworks Ltd 2008

This decrease in pressure leads to a tendency for the lungs

Lung surfactant is a alveoli

The walls also contain ciliated epithelial cells, which are

18 of 28 © Boardworks Ltd 2008

19 of 28 © Boardworks Ltd 2008

Fish manage this by keeping a

This allows the process of

• Many alveoli and

Haemoglobin is made up of four polypeptide chains, each

Each haem group can

The concentration of a gas in a mixture of gases can be

Partial pressure is measured

26 of 28 © Boardworks Ltd 2008

27 of 28 © Boardworks Ltd 2008

Foetal haemoglobin foetal haemoglobin

Myoglobin has a very myoglobin

• This gene codes for the production of chloride

• As a result of this mucus builds up in the body

• When CFTR is working it inhibits the sodium ions

• So chloride builds up in the cell instead of

34 of 28 © Boardworks Ltd 2008

• Mucus in the respiratory system is a necessary

37 of 28 © Boardworks Ltd 2008

• Can also cause infertility – mucus production can

• What are the Reproductive problems

• What are the Digestive problems caused by

39 of 28 © Boardworks Ltd 2008

42 of 28 © Boardworks Ltd 2008

• Genetic screening is the process of

• It can improve people's chances of survival

45 of 28 © Boardworks Ltd 2008

• Some people agree and others disagree with

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Gas Exchange Cystic Fibrosis & Genetic Screening

Gas Exchange Cystic Fibrosis & Genetic Screening