CBS diseases

Question 1

what are 2 types of metabolic defects

Answer 1

Phenylketonuria

Albinism

Question 2

what is Phenylketonuria

Answer 2

defective phenylalanine hydroxylase (phe→tyr) resulting in reduced tyr production and hormones that are derived from it

Question 3

what is albinism

Answer 3

(many forms) one form due to defective tyrosinase
(tyr →melanin)

Question 4

what disease is an example of a mutation of a protein

Answer 4

SICKLE CELL DISEASE

Question 5

what is sickle cell disease

Answer 5

GLUTAMIC ACID to VALINE at position 6 on globin surface. Glu is hydrophilic and negatively charged, Val is hydrophobic. Stabilises polymerization of HbS.

Question 6

what 2 diseases are caused by the stable aggregation of proteins

Answer 6

Alzheimer’s Disease

Creuzfeldt-Jakob Disease

Question 7

what is Alzheimer’s Disease caused by

Answer 7

Amyloid proteins forming plaques in Alzheimer’s Disease (aggregation of misfiled proteins)

Question 8

what is Creuzfeldt-Jakob Disease caused by

Answer 8

Prion protein polymerisation in Creuzfeldt-Jakob Disease

Question 9

what is tay sachs disease

Answer 9

accumulation of GM2 gangliosides in LYSOSOMES, autosomal recessive

Question 10

what is zellweger syndrome caused by

Answer 10

affects PEROXISOMES, complete or partial loss of peroxisomes - mutations is one of 13 PEX genes called peroxins

Question 11

what is gauchers disease

Answer 11

metabolism of GlcCer is deficient

Question 12

what is farber disease

Answer 12

metabolism of Cer is deficient

Question 13

what is hereditary haemolytic anaemia

Answer 13

imbalance of globin chain production

Question 14

what is Beta-thalassaemia

Answer 14

deficient beta-globin production

Question 15

what is alpha-thalassaemia

Answer 15

deficient alpha-globin production

Question 16

what is Hereditary persistence of fetal haemoglobin (HPFH)

Answer 16

mutations of developmental expression of gamma gene

Question 17

what is Porphyria

Answer 17

defects in heme synthesis

Question 18

what is respiratory acidosis

Answer 18

HIGH HCO3-

Question 19

what is Metabolic acidosis

Answer 19

LOW HCO3-

Question 20

what is Inclusion-cell (I cell) disease

Answer 20

protein targeting disorder, Lysosomal proteins are not targeted to the lysosome, Affects all tissues – slow growth, Developmental defects

Question 21

what is epidermolysis bullosa simplex (EBS)

Answer 21

keratin mutation disease (intermediate fibre disease)

Question 22

what is neurodegenerative disease amyotrophic lateral sclerosis (ALS)

Answer 22

neurofilament abnormal expression

Question 23

what are 2 ciliopathies

Answer 23

Situs inversus

Autosomal Dominate Polycystic Kidney Disease (ADPKD)

Question 24

what is Situs inversus

Answer 24

inherited organs on wrong side = defect in cilia-mediated movement of growth factor in embryo

Question 25

what is Autosomal Dominate Polycystic Kidney Disease (ADPKD)

Answer 25

formation of kidney cystic expand = normal tissue disrupted

mutated proteins (polycystin-1 and -2) associated with abnormal function of primary cilia

Question 26

what is Hutchinson – Guilford Progeria Syndrome (HGPS)

Answer 26

mutation in the Lamin A gene, Results in the synthesis of progerin (abnormal lamin A protein) so patients have premature ageing features

Question 27

what is FL (follicular lymphoma)

Answer 27

increased BCl2 expression in B cells - the BCl2 then blocks the apoptosis of the cells that have been transformed, leading to the survival and accumulation of abnormal B cells.

It can be treated with venetoclax (inhibitor of BCl2)

the symptoms are:
- shortness of breath
- tiredness
- enlarged spleen/ lymph nodes
- reduced level or RBCs and platelets

Question 28

what is cystic fibrosis caused by

Answer 28

deletion of codon at position 508 - autosomal recessive - Located on q31.2 locus of chromosome 7

reduced chloride transport
production of thick mucus
no movement of chloride ions means movement of water is not regulated