Clinical Flashcards
Cystic fibrosis
a mutation causes CFTR, a plasma membrane Cl- channel, to enter ERAD pathway
Parkinson’s disease
familial;
Parkin is defective; parkin is a type of ubiquitin ligase
Human cytomegalovirus effect
it diverts MHC to ERAD pathway;
(major histocompatibility complex) MHC is a membrane protein on T cell which recognises infected cell by binding to specific surface proteins
Mucolipidosis II
congenital;
lack N-acetylglucosamine phosphotransferase
Lysosomal storage diseases
e.g.?
inherited defects in lysosomal enzymes; there are 45 different human diseases that fall under this category which are diverse and often have devastating pathologies
Gaucher disease is an example
familial hypercholesterolemia
patients have elevated cholesterol as they are unable to accumulate it from plasma
this is due to a variety of mutations involving LDL receptor:
- no protein made
- defective signal sequence
- trapped in ER
- fails to bind LDL
as the LDL circulating levels are high, artherosclerotic plaques can develop–> which can cause heart attack/stroke
how do local anaesthetics work?
block Na+ channels
what are Ca2+ blockers used for?
to treat angina, cardiac arrhythmias, and high blood pressure
anxiolytics?
- valium diazepam
- allosteric activator of GABA receptors
- decreases frequency of firing
general anesthetic?
- propofol
- Na channel blockers
Myasthenia gravis
defect in nAchRs
muscle relaxants work on?
nAchRs
Male precocious puberty
- a point mutation in alpha-s causes rapid dissociation of GDP leading to increased G-protein activation
- inactive at body temp but active in testes
- cAMP formation triggers puberty
Cholera toxin
-inhibits GTPase activity of alpha-s
Pertussis toxin
- causes whooping cough
- blocks receptor coupling to alpha-i
