TOPIC 2- GENES AND HEALTH

PROTEINS
Protein monomer is an amino acid.
Amino acids have carboxylic group, hydrogen atom, amino group (NH2) and variable R group.
Central carbon= alpha carbon
Primary protein structure is formation of polypeptide chain= many amino acids joined via
condensation reactions to form peptide bonds
Secondary Structure interactions between charged amino/ carboxylic groups form alpha helix
or beta pleated sheet
Tertiary structure further folding to = 3D shape due to ionic bonds of ionised R groups and
further hydrophobic interactions = h bonds, covalent bonds, disulphide bridges and polar
interactions
Quaternary structure two or more polypeptide chains held by h bonds

Globular proteins- complex tertiary + sometimes quaternary structure to form enzymes etc
Fibrous proteins little or no tertiary structure- parallel polypeptide chains cross link to form
fibres e.g. keratin in nails.
Conjugated proteins- protein joined to a prosthetic group e.g. glycoproteins are proteins
conjugated with a carbohydrate prosthetic group (holds water well- synovial fluids/ mucus
function) Lipoproteins- proteins + lipid prosthetic group

CATALYSTS
Speed up reactions- enzymes are biological catalysts that work intracellular or extracellular.
Enzymes are globular proteins- specific shape including a specific active site- only certain
shaped molecules can fit into the active site- (substrate)= lock and key hypothesis or if active
site is induced to change shape by substrate= induced fit theory. Both end up with enzyme-
substrate complex- charged groups attract distorting the substrate by aiding bond breakage and
formation- products released from active site- enzyme/ active site are unchanged and can
accept another substrate molecule.
Anabolic reactions- build up new chemicals
Catabolic reactions- break down
Combination= metabolism
Enzymes work by lowering the activation energy needed
When enzymes are denatured (due to heat/ pH etc) tertiary structure is lost due breaking of H
bonds etc- when this happens rate of reaction declines as enzyme stops functioning

CELL MEMBRANES
 phospholipids bilayer- phosphate prosthetic
group attached to glycerol of lipid. Glycerol
and phosphate= hydrophilic head, lipid tails
are hydrophobic fatty acids. Chemical pass
through layer by carrier/channel proteins-
fat-soluble organic molecules and small
molecules e.g. water can pass through.
Cholesterol regulates fluidity.
Glycoproteins- function in cell signalling,
recognition and binding
Carrier proteins- specific to molecules, transport via active transport. Channel proteins-
facilitated diffusion. Receptors bind to hormones.
Facilitated diffusion carrier proteins carry large water-soluble substances
Diffusion- small, lipid-soluble substances pass through down concentration gradient
Facilitated diffusion- via channel proteins- polar water soluble substances down conc. gradient
Active Transport- water-soluble substances again concentration gradient needs carrier protein
and ATP.
Osmosis- water moves down water potential gradient.

Rate of diffusion is affected by surface area, concentration gradient, temperature and distance
Temperature increase- permeability increases

The cell membrane is described to be fluid because of its hydrophobic integral components
such as lipids and membrane proteins that move laterally or sideways throughout the
membrane.

The membrane is depicted as mosaic because like a mosaic that is made up of many different
parts the cell membrane, components such as glycoproteins are scattered throughout the
membrane.

DNA STRUCTURE

Nucleic acids- information molecules of cells.

DNA- deoxyribonucleic acid.
RNA- ribonucleic acid
DNA/RNA- polymers monomers are nucleotides/ mononucleotides.
Each mononucleotide- 3 parts- pentose (5 CARBON) sugar, phosphate group and a nitrogen
containing base.
Pentose Sug. In RNA- ribose, DNA- deoxyribose- (one less oxygen)

Nitrogen-containing bases found in nucleic acids-

PURINES- 2 Nitrogen ringsADENINE, GUANINE
PYRIMIDINES- 1 Nitrogen ring- CYTOSINE, THYMINE
DNA- 4 base combo- 1 PURINE TO ONE PYRIMIDINES A-T G-C
RNA purine base same but thymine is replaced by Uracil.
 DEOXYRIBOSE has OH, off carbon on bottom left pentagon corner, and H on bottom right,
RIBOSE has both OH.
Phosphate group- makes nucleic acids acidic
Sugar, Base and phosphate joined by CONDENSATION REACTIONS- loss 2 H20 molecules.
Mononucleotides linked by condensation reaction- polynucleotide strands.
Sugar from one bonds to phosphate in another= hydroxyl group at one end and phosphate at
other.
RNA- forms singular polynuc. Strands- folded to shapes or remain thread.
DNA- two strands twisted around each other, one upside down.
Sugar/phosphate= backbone
Inwards= bases = spiralled DNA.
Two strands DNA held Hydrogen bonds between complementary base pairs.
5 strand and 3 strand- deps on which carbon of pentagon bonds are.
DNA code- triplet code.
3 base pairs= a codon.
Same amino acid can be made of different codons e.g. Ser = AGA or AGG.

DNA REPLICATION- provide DNA for daughter cells

- DNA unwinds and DNA Helicase causes strands to split ( H bonds break)
- Exposed bases attract free nucleotides-
- H bonds form between complementary pairs DNA polymerase and DNA ligase join nucleotides
- Two identical daughter strands formed- 4 strands from 2.
SEMI CONSERVATIVE REPLICATION-
Theory of Meselson and Stahl
DNA cultured on heavy N15 (when centrifuged is low in test tube as is dense)
When DNA cultured on light N14- (centrifuged is high as not very dense)
By moving one cultured DNA sample to lighter/ heavier base- when centrifuged is in middle=
1 heavy strand and one light strand must be semi conservative

PROTEIN SYNTHESIS- give instructions for making a certain protein

TRANSCRIPTION- makes mRNA strand.
B bonds between base pairs split- DNA unwinds to = a sense and antisense strand- antisense
used as template- complementary bases of ribonucleotides pair with antisense template strand
but uracil replaced thymine- RNA polymerase joins ribonucleotides to form a singular mRNA.
TRANSLATION - mRNA strand leaves nucleus via nuclear pores (DNA too large) here lines up
along ribosome- tRNA brings free nucleotides from cytoplasm and lines up along mRNA- these
amino acids join via peptide bonds to = the polypeptide chain

DNA MUTATIONS
Replication, translation and transcription all involved reading, copying and pairing of bases-
plenty of opportunities for error. Single codon changed or misread amino acid polypeptide
chain is altered- this is a mutation- can have no noticeable functional significance but can
affect whole organism- many mutations occur during meiosis so genetic material of gametes
contains mutations. When somatic (body) cells have mutations- specific enzymes remove
faulty area- acts as scissors.
Point mutation- change in gene itself- miscopying nucleotides
Chromosomal mutation- change in position of gene on chromosome
Gene deletion- loss of gene
Duplication- gene or gene sequence repeated
Inversion- genes wrong way round
Translocation- different genes in different chromosomes swapped/ muddled
Whole- chromosome mutation- entire chromosome lost- or duplicated (Downs syndrome 3
copies chromosome 21 instead of 2)
Some mutations beneficial, some insignificant, some damaging.
Mutagens increase rate or mutation or trigger it such as parts of Electromagnetic spectrum.

CFTR MUTATION- cystic fibrosis

Normal functioning CFTR protein- enables sodium channel- Na+ and CL- ions enter cell- CL-
via chlorine pump on Basal side via active transport. BUT when CFTR not functioning- blocks
sodium channel so ions cant leave- thus water moves via osmosis into the cell- so it is not with
mucus that as a result is salty and thick- builds up in airways- blocks air flow to alveoli- cilia
cant move out of system. Pathogens get trapped in mucus- ideal conditions for infection to
develop. Dehydrated cells loose anti-bacterial properties.
Mucus blocks pancreatic duct- enzymes to digest food cant reach intestine- trapped in
pancreas, can begin to digest pancreas thus damaging it. Mucus blocks cervix in women. Sweat
is salty and more concentrated- reabsorption of salts does not occur- salts lost.
Treatments-
Physiotherapy- means to remove mucus from airways manually by massage twice a day
Take enzymes with food so they can be digested
Antibiotic medication (usually inhalers) - prevent pathogens caught in mucus causing
infection
Fertility treatments like IVF
Transplants
Gene therapy

GENE THERAPY- inserting normal allele of a gene into cells to replace a faulty allele caused
by a inherited disorder. Can be done on early embryo (illegal in UK currently) or in the
affected body part- somatic therapy

SOMATIC THERAPY
-identify gene involved e.g. for CF on
chromosome 7
- make copies of normal allele- insert into
vector (usually viruses and liposomes)
- use the vector to insert the allele into the
target cells.
After insertion the normal allele into the
genome the target cell can make it- make
CFTR function thus allow normal chloride
movement- but faulty gene still in gametes- so can be passed on.
 Only around 25% normal chloride function resumes
Effect is temporary as cells die- and new cells have DNA with faulty gene
Use of virus vectors have side effects
Hard to deliver, especially with liposomes 1 in 1000 genes reached an epithelial cell.

Genetic disorders cant be cured- thus avoidance and early treatment are important for
potential parents-
- not have child if will have condition,
- treatment straight after birth- reduce impacts later
- genetically screen new born to know- but sometimes false negatives occur due to sheer variety
of mutations that cause harm etc.
- PIGD- pre-implantation genetic diagnosis- embryos from IVF tested before implanted
- Prenatal DNA testing can allow choice if baby has condition;

AMNIOCENTESIS- syringe through stomach- amniotic fluid taken and cultured and tested-
foetus must be around 15 weeks--- termination more traumatic, risk miscarriage
CHORIONIC VILLUS SAMPLING- syringe through vagina takes sample of embryonic tissue
from placenta- can be done at 8-10 week foetus and results can be gained next day- no need to
culture.
Factors to be considered
-risk of miscarriage- risk to foetus
-abortion if positive for mutation
-cost of bringing up disabled child
-mental and emotional trauma of disabled child or abortion
-being prepared
ETHICS
-basic right to life- duty to provide that right
-utilitarianism (maximising good)
- best choice for yourself