TOPIC 1- LIFESTYLE, HEALTH & RISK

WATER
H-Bonds creates adhesie a!ect- hi"h #$%&$ re'atie to si#i'ar si(ed
#o'ec)'es
E*ce''ent so'ent- di$o'e a''o+s ionic s)&stances to &e disso'ed- $o'ar
s)&stances a'so disso'e
Carries non-$o'ar s)&stances as COLLOI,S -so')te $artic'es &i""er than
so'ent.
Inso')&'e $artic'es /or# E01LSIO2S -dro$'ets o/ one 'i3)id he'd in another. or
S1SPE2SIO2S 4 -so'id 5 'i3)id $artic'es se$arate o)t i/ constant'6 #oed.
Hi"h s)r/ace tension- 'i7e coered &6 s7in- no interact &et+een air and +ater
itse'/-h &onds $)'' do+n and to"ether8
A#$hoteric- acts as Ph &)!er as is $roton donor H5 or acce$tor OH-
Hi"h 'atent heat o/ ea$oration- ea$oration ta7es a 'ot o/ ener"6 so coo's as
ea$orates
Ther#a''6 sta&'e d)e to hi"h s$eci9c heat ca$acit6
Creates cohesion -i#$ortant in $'ants section T:.
CIRCULATORY SYSTEM
- hi"her #eta&o'ic rate o/ #an6 #a##a's etc #eans that di!)sion is too s'o+
to #eet needs, as SA%; ratio is s#a''- th)s #ass trans$ort s6ste#s are )sed to
#a*i#ise e<cienc68 In so#e ani#a's their needs are #et &6 si#$'e di!)sion
s)ch as a#oe&a +ith a 'ar"e SA%; ratio di!)sion is e<cient and e!ectie8
BLOOD
P'as#a- #ain co#$onent 'ar"e'6 +ater and disso'ed s)&stances
Er6throc6tes- red &'ood ce''s- &iconcae discs no n)c'e)s #ore roo# /or
hae#o"'o&in and O=
Le)7oc6tes- +hite &'ood ce''s- can s3)ee(e and chan"e sha$e, hae n)c'e)s 5
co'o)r'ess c6to$'as#
P'ate'ets- /ra"#ents o/ other ce''s, ino'ed in c'ot /or#ation8
BLOOD VESSELS
Arteries- &'ood a+a6 /ro# heart- to ')n"s > $)'#onar6 arter6 to &e
o*6"enated- to &od6 ia aorta or head%nec7 ia aorta and carotid arteries8
S#a'' ')#en, 'ar"e a#o)nt co''a"en and e'astic 9&res to a''o+ to ret)rn to
sha$e +hen e*$ands8 2o a'es, s#ooth endothe'ia' 'inin"- $reent /riction8
Arteries #ost at ris7 /ro# da#a"e d)e to hi"h &'ood $ress)re and recoi'8
Veins- &'ood &ac7 to+ards heart- $)'#onar6 ein /ro# ')n"s -o*6"enated.-
in/erior ena caa and s)$erior ena caa /ro# &od68 Hae a'es to $reent
&ac7 ?o+ as is at 'o+er $ress)re than arteries8 Lar"e ')#en to act as &'ood
reseroir and so#e &)t 'ess e'astic and co''a"en 9&res8
Capillaries- net+or7 that 'in7s arteries and eins, 1 ce'' thic7 and er6 thin,
RBC $ass thro)"h, n)trients o)t into net+or7 and +aste -CO= etc. ret)rned to
red &'ood ce''8 B'ood $ress)re 'o+ thro)"h net+or7- &'ood ?o+s /ro# arteries-
arterio'es to ca$i''ar6 net+or7 to en)'es and eins8
THE HEART
S)$erior ;ena Caa 4 ein-carries deo*6"enated &'ood /ro# the )$$er &od6 to
ri"ht atri)#8
P)'#onar6 ;eins 4carries &'ood /ro# the ')n"s to the 'e/t atri)# o/ the heart
Ri"ht Atri)# 4&'ood co''ection cha#&er o/ the heart, it has a thin +a''ed
str)ct)re
Le/t Atri)# 4 this receies o*6"enated &'ood /ro# the 'e/t and ri"ht $)'#onar6
eins8
Ri"ht ;entric'e 4 this receies &'ood /ro#
the ri"ht atri)# and $)#$s it in to the
$)'#onar6 arter68
In/erior ;ena Caa - carries de-
o*6"enated &'ood /ro# the 'o+er &od6
into the ri"ht atri)# o/ the heart8
Aorta 4'ar"est arter6 in the &od6 -&rin"s
o*6"enated &'ood to a'' $arts o/ the &od6
in the s6ste#ic circ)'ation8
Cardiac 0)sc'e 4 these #)sc'e ce''s $)sh
&'ood /ro# the atria to the entric'es to
the &'ood esse's o/ the circ)'ator6
s6ste#8
P)'#onar6 Arteries 4 this carries &'ood /ro# the heart the ')n"s8
@hen the #)sc'es o/ the atria +a''s contract it /orces the re#ainin" &'ood in to
the entric'es8 The +a''s o/ the entric'es contract as the6 9'' +ith &'ood, the
increased &'ood $ress)re c'oses the atrioentric)'ar a'es $reentin"
&ac7?o+ o/ &'ood in to the atria8 As the atrioentric)'ar a'es are c'osed the
$ress)re increases o$enin" the se#i ')nar a'es and $)shin" the &'ood in to
the $)'#onar6 arter6 and aorta8
Atrioentric)'ar ;a'es 4 these are 'ocated
&et+een the atri)# and the entric'e on &oth sides8 The6
$reent &ac7?o+ o/ &'ood in to the atria as the c'os)re o/
these a'es ens)res that the &'ood +i'' ?o+ in to the
$)'#onar6 arter6 or aorta8
Se#i-L)nar ;a'es 4 these are in the aorta and
$)'#onar6 arter6 , the6 $reent &ac7?o+ o/ &'ood in to
the entric'es8
The sinoatria' to$ o/ the ri"ht atri)#-create
re")'ar +aes o/ e'ectrica' actiit6 to atria a''o+in"
contraction- $reent s$readin" &6 ins)'atin" 9&ro)s
tiss)e
CARDIAC CYCLE
,iasto'e 5 s6sto'e8
,iasto'e- atria % entric'es re'a*- &'ood into atri)#- atrioentric)'ar a'es
o$en- &'ood into entric'es- se#i ')nar is c'osed8
S6sto'e- entric'es contract- atrioentric)'ar c'oses, se#i ')nar o$ens &'ood to
aorta or $)'#onar6 arter6
I2TRI2SIC RHYTH0
ear'6 e#&r6o ce''s &e"in to rh6th#ica''6 contract 'on" &e/ore #)sc'e /or#s-
ia e'ectrica' e*citation at AB&$#8
CAR,IO;ASC1LAR CE2TER I2 BRAI2
Contro's heart- as neres s$eed the heart or s'o+ do+n- de$endant on CO=
'ee's in &'ood- nere contro' $roides 3)ic7 reactions- hor#ones a'so a!ect
heart rate &)t "enera''6 s'o+er8
CORO2ARY ARTERIES
Feed #6ocardia' -heart #)sc'e. 4 a&oe aortic a'e /ro# aorta so receied
strai"ht a+a6 and 3)ic7'68
BLOOD PRESSURE
0eas)red &6 SPHYC0O0A2O0ETER -a)to#atic one or c)! 5 #erc)r6
#ano#eter and stethosco$e.
BP > s6sto'ic &$ % diasto'ic &$ e8"8 1=B%DB
H6$ertension- hi"h &'ood $ress)re -1:B%EB. -can &e ca)sed &6 narro+ed
arteries.
H6$otension- 'o+ &'ood $ress)re -EB%AB. -can &e ca)sed &6 +ea7 heart.
DRUGS FOR LOWERING BLOOD PRESSURE
ANTIHYPERTENSIVES
Di!reti"s increased o')#e o/ )rine- 'o+er &'ood o')#e- 'o+er &'ood
$ress)re -SE na)sea.
Beta #l$"%ers- &'oc7 heartFs res$onse to hor#ones s)ch as adrena'ine that
s$eed heart )$ -SE dia&etes 'in7.
S&'pat(eti" Ner)e In(i#it$rs- &'oc7 s6#$athetic neres- these "et arteries
to constrict, &6 &'oc7in" 7ee$s arteries di'ated so &'ood $ress)re is 7e$t 'o+
-SE co)"h.
ACE In(i#it$rs- hor#one an"iotensin ca)ses &'ood esse's to constrict so
inhi&itors $reent these &ein" #ade th)s esse's are not constricted8 -SE
i#$aired 7idne6 /)nction.
Treat#ent o/ C;, ino'ed anti(&pertensi)es -'o+er &$., red)cin" o/
cho'estero' -statins., anti"$a*!lants- -'ess 'i7e'6 athero#a to /or#., and
platelet in(i#it$rs
Statins-&'oc7 en(6#e in 'ier that #a7es cho'estero' -SE na)sea, consti$ation
or rare in?a##ation reactions- can enco)ra"e a not hea'th6 diet, create
attit)de that no need to eat +e'' as statins $reent cho'estero' &)i'd )$.
Anti"$a*!lants- e8"8 @ar/arin, $reent ris7 o/ c'ot /or#ation &6 thinnin"
&'ood- -SE )ncontro''ed &'eedin".
Platelet in(i#it$rs 4 e8"8 As$irin- #a7es $'ate'ets 'ess Gstic76F 4 -SE irritation
to sto#ach 'inin" ca)se sto#ach &'eedin".
CVD CARDIOVASCULAR DISEASE
Res)'ts /ro# coronar6 arteries narro+ed +ith /att6 de$osits- narro+in"
red)ces ?o+ and can stare heart #)sc'e o/ o*6"en- a'so one &'ood c'ot
-thro#&osis. increases 'i7e'ihood o/ another
B'ood c'ottin" as a $rocess is i#$ortant- $reents &'eedin" to death and
entrance o/ $atho"ens8
B)t c'ot in esse's is the $ro&'e#-
,a#a"e to esse'- exposes collagen fbres- platelets from blood stick- the
platelets release thromboplastin- in presence of calcium ions and vitamin K
thromboplastin converts prothrombin to thrombin- this converts soluble
fbrinogen to insoluble fbrin that creates a mesh-like network of fbres
trapping cells + debris to = a clot.
Cascade >
,a#a"e to 'inin"- increased 'i7e'ihood o/ c'ot- i/ c'ot occ)rs, in?a##ator6
res$onse- cho'estero' &)i'ds )$ > athero#a- &)i'd )$ o/ ca'ci)#, sa'ts and
$'ate'ets > $'a3)e /or#ation- narro+s arter6- raises &'ood $ress)re- increased
'i7e'ihood o/ da#a"e8
C'ot can 'ead to ane)r6s#, $'a3)e ca)ses &'ood &)i'd )$ &ehind- arter6
&)'"es, can r)$t)re arter6
Artherosc'erosis- $rocess as a&oe &)t ca'ci)# $'a3)e ca)ses 'oss o/ e'asticit6
in arter6 +a''s- 'ess a&'e to co$e +ith recoi' da#a"e #ore 'i7e'68
@hat increases 'i7e'ihood o/ arter6 da#a"e and +h6-
S#o7in"- nicotine inta7e res)'ts in adrena'ine $rod)ction- heart rate /aster, BP
increases
- to*ins in s#o7e irritate endothe'ia' 'inin", "reater ris7 o/ da#a"e
O&esit6- "reater strain on heart, a'so association &et+een o&esit6 and raised
&'ood $ress)re% had diet
Inactiit6- e*ercise #a7es heart stron"er so can $)#$ #ore &'ood +ith each
&eat8
Hi"h cho'estero'% /att6 died- 'ar"e a#o)nts cho'estero' in &'ood strea#
increases ris7 o/ c'ot
Fa#i'6 histor6- s)""ested "enetic 'in7s
Hi"h B'ood Press)re8
A"e- +ith a"ein" e'asticit6 and +idth o/ arteries deteriorates
Cender- oestro"en in +o#en o!ers so#e $rotection /ro# C;,
Treat#ents- anticoa")'ants, antih6$ertensies, statins -see a&oe.
Ris7 can &e red)ced &6 chan"in" 'i/est6'e choices s)ch as s#o7in" or &ad diet
Ris%- can &e act)a', as s)""ested &6 st)dies, or $erceied-that is a'tered &6
an indiid)a's $ersona' e*$eriences and $erce$tions8
Ris7 is the $ro&a&i'it6 o/ the occ)rrence o/ a )n+anted eent or o)tco#e- &)t
corre'ation does not i#$'6 ca)sation8 E$ide#io'o"ists cond)ct research to
access ris7 /actorsH
T6$es o/ st)d6 >
C$($rt- #an6 $eo$'e, 'on" ti#e $eriod, cate"orised accordin" to +ho has%
doesnFt hae condition- ris7 /actors accessed e8"8 0)nster Heart St)d6 -see
&e'o+. in cho'estero'8
Case"$ntr$l st!+ies- "ro)$ +ith condition and contro' "ro)$- $ast histor6
researched- i#$ortant to #atch case%contro' "ro)$s in ter#s o/ a"e% "ender-
inde$endent aria&'es are contro''ed
Cood st)d6- a'id% re'ia&'e data, re$resentatie o/ +ho'e $o$)'ation- 'ac7 &ias-
aria&'es contro''ed as #)ch as $ossi&'e- standardised #eas)re#ent% other
techni3)es- sa#$'e si(e- +hi'e 'ar"e sa#$'e si(e is "enera''6 &est- i/ on'6 tin6
I hae disease s#a'' "ro)$ indiid)a's s)!erin" &est re$resentatie than
'ar"e sa#$'e +ith one or t+o s)!erers8
CARBOHYDRATES
A'' co#$osed o/ Car&on, H6dro"en and O*6"en8
Three #ain "ro)$s- monosaccharides, disaccharides and polysaccharides
0onosaccharides- sin"'e s)"ar #o'ec)'es containin" 1 O*6"en ato# and = H6dro"en
ato#s /or each Car&on8
-C H= O.n -n> n)#&er o/ s)"ars. e8"8 Triose -n>J. CJHAOJ
,isaccharides are t+o Koined #onosacs8
Loined in a condensation reaction-H=O re'eased
Lin7 &et+een t+o #onosacs is coa'ent &ond ca''ed glycosidic bond
!" #$% &'(n
)lucose+ *ructose = +ucrose stored in plants e.g. sugar beet,cane(
)lucose+ )alactose= -actose main carbohydrate of milk(
)lucose+ )lucose= .altose found in germinating seeds e.g. barley(
0ade o/ #an6 #onosacs Koined +ith "'6cosidic &onds- #an6 condensation reactions-
'ots H=O re'eased8
J-1B #onosacs > o'i"osaccharides
115 #onosacs> $o'6saccharides
2o s+eet taste
Can /or# co#$act #o'ec)'es, idea' /or stora"e in ce''s8
C'6cosidic &onds &ro7en in h6dro'6sis reaction8
2ot er6 +ater so')&'e- donFt inter/ere ce'')'ar /)nctions% disr)$t os#otic &a'ance8
Star"( i#$ortant ener"6 store in $'ants- s)"ar /ro# $hotos6n8 are conerted to
starch- inso')&'e & co#$act- &)t can &e ra$id'6 &ro7en do+n
Starch> 'on" chains "')cose- &)t is #i*t)re o/ /.0-&+1 and /.0-&21!345
A0YLOSE- )n&ranched $o'6#er- s$ira's- #ore co#$act +ith 'en"th8 Co#$rised =BB-
MBBB "')cose #o'ec)'es8 On'6 re'eased &6 en(6#es +or7in" /ro# each end o/
a#6'ase #o'ec)'e8
A0YLOPECTI2- Po'6#er o/ "')cose #o'ec)'es- &)t &ranched8 Lots o/ ter#ina' ends-
&rea7 3)ic7'6 +hen ener"6 is re3)ired8
The co#&ination o/ &oth in starch e*$'ains +h6 starch6 /oods e8"8 $asta are "ood /or
e*ercise8 A0YLOPEC re'eases "')cose /or ce'')'ar res$iration ra$id'68 A0YLOSE
$roides 'on"er ter# ener"6 to 7ee$ "oin"8
TYPICAL STARCH CRAI2 I2 PLA2T CELL IS NMI A0YLOPEC- rest A0YLOSE8
C'6co"en- 'i7e starch &)t 5 &ranches- 3)ic7 &rea7do+n8
A0YLOSE, A0YLOPECTI2 A2, CLYCOCE2 ALL 0A,E CL1COSE 0OLEC1LES I2 CHAI2S
Car&on in "'6cosidic &ond deter#ines +hich is ino'ed8
A#6'ose- on'6 "'6cosidic &onds car&on 1 and : O1,:-"'6cosidic &ondsO > strai"ht
A#6'o$ectin- So#e 1,: &)t /e+ 1,A-"'6cosidic &onds > &ranchin"
Starch > co#&ination o/ strai"ht chain a#6'ose and &ranched A#6'o$ectin8
C'6co"en> 0ore 1,A &onds than 1,: &onds8
To &e "ood store, &onds in car&oh6drates need to &e &ro7en to re'ease sin"'e s)"ars
/or ce''s to )se8 C'6cosidic &ond &et+een #onosaccharides s$'it &6 h6dro'6sis-
o$$osite condensation- +ater re3)ired% added to &ond8 H6dro'6sis ta7es $'ace in
di"estion% in #)sc'e and 'ier ce''s8
LIPIDS
Fatt6 acids 5 "'6cero' -J /att6 acids P "'6cero'> tri"'6ceride.
Act as ener"6 so)rce &)t a'so hae /)nctions s)ch as $rotectie aro)nd
or"ans, a'so +ater$roo9n" /)r% /eathers, ins)'atin" $ro$erties- the /att6 sheath
aro)nd neres8
Li$ids disso'e in or"anic so'ents- inso')&'e in +ater so donFt a!ect ce'')'ar
os#otic &a'ance8
Fats are so'id at roo# t, oi's are 'i3)id -i/ )nsat)rated do)&'e &onds> 7in7s in
chain- +ea7er I0 &onds.
Fatt6 acid-s. 5 "'6cero' Koin &6 condensation reaction &et+een car&o*6' "ro)$
on /att6 acids and h6dro*6' "ro)$ on "'6cero'> ester &ond so reaction >
esteri9cation8
Li$id 5 $rotein > 'i$o$rotein 'i$id 5 $hos$hate "ro)$> $hos$ho'i$ids
-$hos$hate attaches to "'6cero'> h6dro$hi'ic head, 'i$id Gtai'sF o/ /att6 acids>
h6dro$ho&ic.
CHOLESTEROL
1sin" to /or# ce'' #e#&ranes- cant disso'e in &'ood- /o)nd in a'' &od6 ce''s
and a#on" 'i$ids- the6 hae &e trans$orted ia 'i$o$rotein carriersH
L,L -'o+-densit6 'i$o$rotein. 4 #aKor cho'estero' carrier, e*cess L,L increases
ris7 $'a3)e% athero#a- red)ces the cho'estero' a&sor$tion /ro# &'ood8
H,L- -hi"h-densit6 'i$o$rotein. trans$orts 'i$ids% )nsat)rated /ats to 'ier to &e
&ro7en do+n % re#oed8 H,L acts to red)ce cho'estero'- th)s is considered
"ood cho'estero'
Hi"h cho'estero'- increase ris7 o/ CH, as c'ots a&i'it6 to /or# increases d)e to
'ar"e a#o)nt cho'estero' in &'ood- treat#ent /or hi"h cho'estero' > Statins
-&'oc7 en(6#e in 'ier res$onsi&'e /or #a7in" the cho'estero'.
M!nster Heart St!+&- aro)nd 11,BBB tested /or &et+een :-1: 6ears, a"ed
&et+een JA-AM8
BMI
Bod6 #ass inde*> #ass -7". % hei"ht-#. =
1nder =1> 1@ =1-=M>Cood =A-JB> O@ J15 O&ese
Basic ener"6 re3)ire#ent > +ei"ht -7". Q : -: is h)#an &asic ener"6
re3)ire#ent $er 7".
B0R- &asa' #eta&o'ic rate > &asic ener"6 re3)ire#ent *=:
Tota' ener"6 need > B0R 5 dai'6 actiit6 )ses
CORE PRACTICALS FOR UNIT
,a$hnia- a!ect o/ ca!eine on heart&eat
I##o&i'ise da$hnia ia cotton +oo' strands on cait6 s'ide-
Set )$ #icrosco$e- inc')de &ea7er o/ +ater as heat sin7 /ro# 'i"ht /or
#icrosco$e
P)t da$hnia s'ide )nder- contro'- dash on $iece o/ $a$er /or each heart &eat
/or JB seconds- *= /or &$#8 Add ca!eine sa#$'e- re$eat
;ita#in C- content o/ /r)it K)ices
Fi'ter /r)it K)ice sa#$'e- add to &)rette, add to 1c#J o/ ,CPIP )nti' ,CPIP is
co'o)r'ess- "reater o')#e o/ 'i3)id 'ess ita#in C-re$eat +ith other K)ices
ens)re thoro)"h c'eanin"
Pro&'e#s can occ)r +ith K)d"in" +hen ,CPIP has deco'o)rised and $otentia' to
read &)rette +ron"- ita#in C containin" K)ice added 1 dro$ at ti#e- so on'6
to 1 dro$ acc)rac68
TOPIC =- CE2ES A2, HEALTH
PROTEI2S
Protein #ono#er is an a#ino acid8
A#ino acids hae car&o*6'ic "ro)$, h6dro"en ato#, a#ino "ro)$ -2H=. and
aria&'e R "ro)$8
Centra' car&on> a'$ha car&on
Pri'ar& pr$tein str!"t!re is /or#ation o/ $o'6$e$tide chain> #an6 a#ino
acids Koined ia condensation reactions to /or# $e$tide &onds
Se"$n+ar& Str!"t!re interactions &et+een char"ed a#ino% car&o*6'ic
"ro)$s /or# a'$ha he'i* or &eta $'eated sheet
Tertiar& str!"t!re /)rther /o'din" to > J, sha$e d)e to ionic &onds o/ ionised
R "ro)$s and /)rther h6dro$ho&ic interactions > h &onds, coa'ent &onds,
dis)'$hide &rid"es and $o'ar interactions
,!aternar& str!"t!re t+o or #ore $o'6$e$tide chains he'd &6 h &onds
C'o&)'ar $roteins- co#$'e* tertiar6 5 so#eti#es 3)aternar6 str)ct)re to /or#
en(6#es etc
Fi&ro)s $roteins 4'itt'e or no tertiar6 str)ct)re- $ara''e' $o'6$e$tide chains
cross 'in7 to /or# 9&res e8"8 7eratin in nai's8
ConK)"ated $roteins- $rotein Koined to a $rosthetic "ro)$ e8"8 "'6co$roteins
are $roteins conK)"ated +ith a car&oh6drate $rosthetic "ro)$ -ho'ds +ater
+e''- s6noia' ?)ids% #)c)s /)nction. Li$o$roteins- $roteins 5 'i$id $rosthetic
"ro)$
CATALYSTS
S$eed )$ reactions- en(6#es are &io'o"ica' cata'6sts that +or7 intrace'')'ar or
e*trace'')'ar8
En(6#es are "'o&)'ar $roteins- s$eci9c sha$e inc')din" a s$eci9c actie site-
on'6 certain sha$ed #o'ec)'es can 9t into the actie site- -s)&strate.> 'oc7
and 7e6 h6$othesis or i/ actie site is ind)ced to chan"e sha$e &6 s)&strate>
ind)ced 9t theor68 Both end )$ +ith en(6#e-s)&strate co#$'e*- char"ed
"ro)$s attract distortin" the s)&strate &6 aidin" &ond &rea7a"e and /or#ation-
$rod)cts re'eased /ro# actie site- en(6#e% actie site are )nchan"ed and can
acce$t another s)&strate #o'ec)'e8
Ana&o'ic reactions- &)i'd )$ ne+ che#ica's
Cata&o'ic reactions- &rea7 do+n
Co#&ination> #eta&o'is#
En(6#es +or7 &6 'o+erin" the actiation ener"6 needed
@hen en(6#es are denat)red -d)e to heat% $H etc. tertiar6 str)ct)re is 'ost
d)e &rea7in" o/ H &onds etc- +hen this ha$$ens rate o/ reaction dec'ines as
en(6#e sto$s /)nctionin"
CELL MEMBRANES
$hos$ho'i$ids &i'a6er- $hos$hate
$rosthetic "ro)$ attached to "'6cero'
o/ 'i$id8 C'6cero' and $hos$hate>
h6dro$hi'ic head, 'i$id Gtai'sF are
h6dro$ho&ic /att6 acids8 Che#ica'
$ass thro)"h 'a6er &6 carrier%channe'
$roteins- /at-so')&'e or"anic
#o'ec)'es and s#a'' #o'ec)'es e8"8
+ater can $ass thro)"h8
Cho'estero' re")'ates ?)idit68
C'6co$roteins- /)nction in ce'' si"na''in", reco"nition and &indin"
Carrier $roteins- s$eci9c to #o'ec)'es, trans$ort ia actie trans$ort8 Channe'
$roteins- /aci'itated di!)sion8 Rece$tors &ind to hor#ones8
Faci'itated di!)sion 4 carrier $roteins carr6 'ar"e +ater-so')&'e s)&stances
,i!)sion- s#a'', 'i$id-so')&'e s)&stances $ass thro)"h do+n concentration
"radient
Faci'itated di!)sion- ia channe' $roteins- $o'ar +ater so')&'e s)&stances
do+n conc8 "radient
Actie Trans$ort- +ater-so')&'e s)&stances a"ain concentration "radient needs
carrier $rotein and ATP8
Os#osis- +ater #oes do+n +ater $otentia' "radient8
Rate o/ di!)sion is a!ected &6 s)r/ace area, concentration "radient,
te#$erat)re and distance
Te#$erat)re increase- $er#ea&i'it6 increases
The ce'' #e#&rane is descri&ed to &e 6uid &eca)se o/ its h6dro$ho&ic inte"ra'
co#$onents s)ch as 'i$ids and #e#&rane $roteins that #oe 'atera''6 or
side+a6s thro)"ho)t the #e#&rane8
The #e#&rane is de$icted as mosaic &eca)se 'i7e a #osaic that is #ade )$ o/
#an6 di!erent $arts the ce'' #e#&rane, co#$onents s)ch as "'6co$roteins
are scattered thro)"ho)t the #e#&rane8
DNA STRUCTURE
2)c'eic acids- in/or#ation #o'ec)'es o/ ce''s8
,2A- deo*6ri&on)c'eic acid8
R2A- ri&on)c'eic acid
,2A%R2A- $o'6#ers #ono#ers are n)c'eotides% #onon)c'eotides8
Each #onon)c'eotide- J $arts- $entose -M CARBO2. s)"ar, $hos$hate "ro)$
and a nitro"en containin" &ase8
Pentose S)"8 In R2A- ri&ose, ,2A- deo*6ri&ose- -one 'ess o*6"en.
2itro"en-containin" &ases /o)nd in n)c'eic acids-
P1RI2ES- = 2itro"en rin"sRA,E2I2E, C1A2I2E
PYRI0I,I2ES- 1 2itro"en rin"- CYTOSI2E, THY0I2E
,2A- : &ase co#&o- 1 P1RI2E TO O2E PYRI0I,I2ES A-T C-C
R2A $)rine &ase sa#e &)t th6#ine is re$'aced &6 1raci'8
,EOQYRIBOSE has OH, o! car&on on &otto# 'e/t $enta"on corner, and H on
&otto# ri"ht, RIBOSE has &oth OH8
Phos$hate "ro)$- #a7es n)c'eic acids acidic
S)"ar, Base and $hos$hate Koined &6 CO2,E2SATIO2 REACTIO2S- 'oss = H=B
#o'ec)'es8
0onon)c'eotides 'in7ed &6 condensation reaction- $o'6n)c'eotide strands8
S)"ar /ro# one &onds to $hos$hate in another> h6dro*6' "ro)$ at one end
and $hos$hate at other8
R2A- /or#s sin")'ar $o'6n)c8 Strands- /o'ded to sha$es or re#ain thread8
,2A- t+o strands t+isted aro)nd each other, one )$side do+n8
S)"ar%$hos$hate> &ac7&one
In+ards> &ases > s$ira''ed ,2A8
T+o strands ,2A he'd H6dro"en &onds &et+een co#$'e#entar6 &ase $airs8
MF strand and JF strand- de$s on +hich car&on o/ $enta"on &onds are8
,2A code- tri$'et code8
J &ase $airs> a codon8
Sa#e a#ino acid can &e #ade o/ di!erent codons e8"8 Ser > ACA or ACC8
,2A REPLICATIO2- $roide ,2A /or da)"hter ce''s
- ,2A )n+inds and ,2A He'icase ca)ses strands to s$'it - H &onds &rea7.
- E*$osed &ases attract /ree n)c'eotides-
- H &onds /or# &et+een co#$'e#entar6 $airs ,2A $o'6#erase and ,2A 'i"ase
Koin n)c'eotides
- T+o identica' da)"hter strands /or#ed- : strands /ro# =8
SE0I CO2SER;ATI;E REPLICATIO2-
Theor6 o/ 0ese'son and Stah'
,2A c)'t)red on hea6 21M -+hen centri/)"ed is 'o+ in test t)&e as is dense.
@hen ,2A c)'t)red on 'i"ht 21:- -centri/)"ed is hi"h as not er6 dense.
B6 #oin" one c)'t)red ,2A sa#$'e to 'i"hter% heaier &ase- +hen
centri/)"ed is in #idd'e> 1 Ghea6F strand and one G'i"ht strandF #)st &e se#i
conseratie
PROTEIN SYNTHESIS- "ie instr)ctions /or #a7in" a certain $rotein
TRA2SCRIPTIO2- #a7es #R2A strand8
B &onds &et+een &ase $airs s$'it- ,2A )n+inds to > a sense and antisense
strand- antisense )sed as te#$'ate- co#$'e#entar6 &ases o/ ri&on)c'eotides
$air +ith antisense te#$'ate strand &)t )raci' re$'aced th6#ine- R2A
$o'6#erase Koins ri&on)c'eotides to /or# a sin")'ar #R2A8
TRA2SLATIO2 - #R2A strand 'eaes n)c'e)s ia n)c'ear $ores -,2A too 'ar"e.
here 'ines )$ a'on" ri&oso#e- tR2A &rin"s /ree n)c'eotides /ro# c6to$'as#
and 'ines )$ a'on" #R2A- these a#ino acids Koin ia $e$tide &onds to > the
$o'6$e$tide chain
,2A 01TATIO2S
Re$'ication, trans'ation and transcri$tion a'' ino'ed readin", co$6in" and
$airin" o/ &ases- $'ent6 o/ o$$ort)nities /or error8 Sin"'e codon chan"ed or
#isread a#ino acid $o'6$e$tide chain is a'tered- this is a #)tation- can hae
no noticea&'e /)nctiona' si"ni9cance &)t can a!ect +ho'e or"anis#- #an6
#)tations occ)r d)rin" #eiosis so "enetic #ateria' o/ "a#etes contains
#)tations8 @hen so#atic -&od6. ce''s hae #)tations- s$eci9c en(6#es
re#oe /a)'t6 area- acts as scissors8
Point #)tation- chan"e in "ene itse'/- #isco$6in" n)c'eotides
Chro#oso#a' #)tation- chan"e in $osition o/ "ene on chro#oso#e
Cene de'etion- 'oss o/ "ene
,)$'ication- "ene or "ene se3)ence re$eated
Inersion- "enes +ron" +a6 ro)nd
Trans'ocation- di!erent "enes in di!erent chro#oso#es s+a$$ed% #)dd'ed
@ho'e- chro#oso#e #)tation- entire chro#oso#e 'ost- or d)$'icated -,o+nFs
s6ndro#e J co$ies chro#oso#e =1 instead o/ =.
So#e #)tations &ene9cia', so#e insi"ni9cant, so#e da#a"in"8
0)ta"ens increase rate or #)tation or tri""er it s)ch as $arts o/
E'ectro#a"netic s$ectr)#8
CFTR 01TATIO2- c6stic 9&rosis
2or#a' /)nctionin" CFTR $rotein- ena&'es sodi)# channe'- 2a5 and CL- ions
enter ce''- CL- ia ch'orine $)#$ on Basa' side ia actie trans$ort8 B1T +hen
CFTR not /)nctionin"- &'oc7s sodi)# channe' so ions cant 'eae- th)s +ater
#oes ia os#osis into the ce''- so it is not +ith #)c)s that as a res)'t is sa't6
and thic7- &)i'ds )$ in air+a6s- &'oc7s air ?o+ to a'eo'i- ci'ia cant #oe o)t o/
s6ste#8 Patho"ens "et tra$$ed in #)c)s- idea' conditions /or in/ection to
dee'o$8 ,eh6drated ce''s 'oose anti-&acteria' $ro$erties8
0)c)s &'oc7s $ancreatic d)ct- en(6#es to di"est /ood cant reach intestine-
tra$$ed in $ancreas, can &e"in to di"est $ancreas th)s da#a"in" it8 0)c)s
&'oc7s ceri* in +o#en8 S+eat is sa't6 and #ore concentrated- rea&sor$tion o/
sa'ts does not occ)r- sa'ts 'ost8
Treat#ents-
Ph6siothera$6- #eans to re#oe #)c)s /ro# air+a6s #an)a''6 &6 #assa"e
t+ice a da6
Ta7e en(6#es +ith /ood so the6 can &e di"ested
Anti&iotic #edication -)s)a''6 inha'ers. - $reent $atho"ens ca)"ht in #)c)s
ca)sin" in/ection
Ferti'it6 treat#ents 'i7e I;F
Trans$'ants
Cene thera$6
CE2E THERAPY- insertin" nor#a' a''e'e o/ a "ene into ce''s to re$'ace a /a)'t6
a''e'e ca)sed &6 a inherited disorder8 Can &e done on ear'6 e#&r6o -i''e"a' in
1K c)rrent'6. or in the a!ected &od6
$art- so#atic thera$6
SO0ATIC THERAPY
-identi/6 "ene ino'ed e8"8 /or CF on
chro#oso#e N
- #a7e co$ies o/ nor#a' a''e'e- insert
into ector -)s)a''6 ir)ses and
'i$oso#es.
- )se the ector to insert the a''e'e
into the tar"et ce''s8
A/ter insertion the nor#a' a''e'e into
the "eno#e the tar"et ce'' can #a7e
it- #a7e CFTR /)nction th)s a''o+
nor#a' ch'oride #oe#ent- &)t /a)'t6 "ene sti'' in "a#etes- so can &e $assed
on8
On'6 aro)nd =MI nor#a' ch'oride /)nction res)#es
E!ect is te#$orar6 as ce''s die- and ne+ ce''s hae ,2A +ith /a)'t6 "ene
1se o/ ir)s ectors hae side e!ects
Hard to de'ier, es$ecia''6 +ith 'i$oso#es 1 in 1BBB "enes reached an
e$ithe'ia' ce''8
Cenetic disorders cant &e c)red- th)s aoidance and ear'6 treat#ent are
i#$ortant /or $otentia' $arents-
- not hae chi'd i/ +i'' hae condition,
- treat#ent strai"ht a/ter &irth- red)ce i#$acts 'ater
- "enetica''6 screen ne+ &orn to 7no+- &)t so#eti#es /a'se ne"aties occ)r d)e
to sheer ariet6 o/ #)tations that ca)se har# etc8
- PIC,- $re-i#$'antation "enetic dia"nosis- e#&r6os /ro# I;F tested &e/ore
i#$'anted
- Prenata' ,2A testin" can a''o+ choice i/ &a&6 has conditionH
A02IOCE2TESIS- s6rin"e thro)"h sto#ach- a#niotic ?)id ta7en and c)'t)red
and tested- /oet)s #)st &e aro)nd 1M +ee7s--- ter#ination #ore tra)#atic,
ris7 #iscarria"e
CHORIO2IC ;ILL1S SA0PLI2C- s6rin"e thro)"h a"ina ta7es sa#$'e o/
e#&r6onic tiss)e /ro# $'acenta- can &e done at D-1B +ee7 /oet)s and res)'ts
can &e "ained ne*t da6- no need to c)'t)re8
Factors to &e considered
-ris7 o/ #iscarria"e- ris7 to /oet)s
-a&ortion i/ $ositie /or #)tation
-cost o/ &rin"in" )$ disa&'ed chi'd
-#enta' and e#otiona' tra)#a o/ disa&'ed chi'd or a&ortion
-&ein" $re$ared
ETHICS
-&asic ri"ht to 'i/e- d)t6 to $roide that ri"ht
-)ti'itarianis# -#a*i#isin" "ood.
- &est choice /or 6o)rse'/