Aani CP: Lipoprotein Metabolism Flashcards
Which protein is used to transport Cholesterol across the intestinal brush border into blood?
NPC 1L1
Which proteins bring Cholesterol back into intestine from blood?
ABC G5 and ABC G8
How to reduce LDL cholesterol?
Statins
Which lipoproteins are good: HDL or LDL?
HDL
What are the 4 categories of dyslipidaemia?
Primary Hypercholestremia
Primary Hypertriglyceridemia
Mixed Hyperlipidaemia
Hypolipidaemia
What are the 3 conditions in Primary Hypertriglyeridemia
Familial 1
Familial 4
Familial 5
What is deficient in Familial 1 Hypertriglyceridemia?
ApoC or lipoprotien lipase
What is wrong in Familial 4 Hypertriglyeridemia?
High triglycerides
What is deficient in Familial Hypertriglyceridemia 5?
ApoA 5
PCSK9 is seen in which lipid metabolism disorder?
Familial Hypercholesterolaemia (autosomal dominant type)
Dominant Homozygous Familial Hyeprcholesteroleamia is caused by which mutations?
PCSK9, ApoB, LDL R mutation
Heterozygous Familial Hypercholesterolaemia is caused by which mutations?
LDLRAP1
What features do you get in heterozygous Familial Hypercholesterolaemia ?
Tendon Xanthoma, Xanthelasma, Corneal Arcus
Which lipoprotein disorder gives you eruptive xanthoma papules?
Familial Hypertriglyceridemia Type 1
and Familial Dys-beta-lipoproteinaemia
What is the mutation in Hyper alpha lipoprotein?
CEPT
What is the mutation(s) you get in Phytosterolaemia?
ABC G5 and G8
What are the causes of Mixed Hyperlipidaemia?
- Familial Hepatic lipase deficiency
- Familial combined Hyperlipidaemia
- Familial dys-Beta-lipoprotinaemia
Which type of fatty acids are good?
Cis
Which type of fatty acids are bad?
Trans
Which chylomicron protein increases risk of Alzheimer’s?
ApoE E4 (watch Alzheimer shows on E4)
What symptoms do you get in ApoE E2 Type 3 deficiency? (Familial dys-beta- lipoproteinaemia?
Yellow palmar crease and fatty liver and eruptive xanthoma on skin
What is the mutation in Tangier Disease?
ABC A1 - HDL deficiency
What is the mutation in Hypo-beta-lipoproteinaemia?
Truncated apoB protein
Which lipoprotein can be high in untreated diabetes?
VLDL
Familial combined hyperlipidaemia is thought to involve an increase in synthesis of which apolipoprotein?
Apo B 100
The most common cause in the Western world for secondary hyperlipidaemia?
Diabetes Mellitus
There is high-density lipoprotein (HDL) deficiency as a result of ABC AI mutations?
Tangier Disease
This inborn error of metabolism is tested for universally, across the United Kingdom a few days after birth?
MCADD (medium chain co-A dehydrogenase deficiency)
A form of inherited disease that causes high levels of VLDL and chylomicrons in the plasma. It is sometimes due to apoA V deficiency?
Familial Hypertriglyceridaemia V
Cause hydrolysis of chylomicron remnants and release glycerol and fatty acids into the cell, which may be used for energy or stored for later use
Lisosomes
Activate lipoprotein lipase via apolipoprotein C-II
Chylomicrons
Particles formed when triacylglycerol and cholesterol are assembled with apolipoprotein B-100?
VLDL
Encoded by the APOC2 gene?
Apo C II
What does PCSK9 do?
Binds to LDLR and promotes its degradation (therefore increases LDL)
Novel form of LDL therapy?
Anti-PCSK9 MAb
