CBS diseases Flashcards
what are 2 types of metabolic defects
Phenylketonuria
Albinism
what is Phenylketonuria
defective phenylalanine hydroxylase (phe→tyr) resulting in reduced tyr production and hormones that are derived from it
what is albinism
(many forms) one form due to defective tyrosinase
(tyr →melanin)
what disease is an example of a mutation of a protein
SICKLE CELL DISEASE
what is sickle cell disease
GLUTAMIC ACID to VALINE at position 6 on globin surface. Glu is hydrophilic and negatively charged, Val is hydrophobic. Stabilises polymerization of HbS.
what 2 diseases are caused by the stable aggregation of proteins
Alzheimer’s Disease
Creuzfeldt-Jakob Disease
what is Alzheimer’s Disease caused by
Amyloid proteins forming plaques in Alzheimer’s Disease (aggregation of misfiled proteins)
what is Creuzfeldt-Jakob Disease caused by
Prion protein polymerisation in Creuzfeldt-Jakob Disease
what is tay sachs disease
accumulation of GM2 gangliosides in LYSOSOMES, autosomal recessive
what is zellweger syndrome caused by
affects PEROXISOMES, complete or partial loss of peroxisomes - mutations is one of 13 PEX genes called peroxins
what is gauchers disease
metabolism of GlcCer is deficient
what is farber disease
metabolism of Cer is deficient
what is hereditary haemolytic anaemia
imbalance of globin chain production
what is Beta-thalassaemia
deficient beta-globin production
what is alpha-thalassaemia
deficient alpha-globin production
what is Hereditary persistence of fetal haemoglobin (HPFH)
mutations of developmental expression of gamma gene
what is Porphyria
defects in heme synthesis
what is respiratory acidosis
HIGH HCO3-
what is Metabolic acidosis
LOW HCO3-
what is Inclusion-cell (I cell) disease
protein targeting disorder, Lysosomal proteins are not targeted to the lysosome, Affects all tissues – slow growth, Developmental defects
what is epidermolysis bullosa simplex (EBS)
keratin mutation disease (intermediate fibre disease)
what is neurodegenerative disease amyotrophic lateral sclerosis (ALS)
neurofilament abnormal expression
what are 2 ciliopathies
Situs inversus
Autosomal Dominate Polycystic Kidney Disease (ADPKD)
what is Situs inversus
inherited organs on wrong side = defect in cilia-mediated movement of growth factor in embryo
what is Autosomal Dominate Polycystic Kidney Disease (ADPKD)
formation of kidney cystic expand = normal tissue disrupted
mutated proteins (polycystin-1 and -2) associated with abnormal function of primary cilia
what is Hutchinson – Guilford Progeria Syndrome (HGPS)
mutation in the Lamin A gene, Results in the synthesis of progerin (abnormal lamin A protein) so patients have premature ageing features
what is FL (follicular lymphoma)
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
what is cystic fibrosis caused by
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
