Aani CP: Lipoprotein Metabolism Flashcards

1
Q

Which protein is used to transport Cholesterol across the intestinal brush border into blood?

A

NPC 1L1

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2
Q

Which proteins bring Cholesterol back into intestine from blood?

A

ABC G5 and ABC G8

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3
Q

How to reduce LDL cholesterol?

A

Statins

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4
Q

Which lipoproteins are good: HDL or LDL?

A

HDL

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5
Q

What are the 4 categories of dyslipidaemia?

A

Primary Hypercholestremia
Primary Hypertriglyceridemia
Mixed Hyperlipidaemia
Hypolipidaemia

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6
Q

What are the 3 conditions in Primary Hypertriglyeridemia

A

Familial 1
Familial 4
Familial 5

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7
Q

What is deficient in Familial 1 Hypertriglyceridemia?

A

ApoC or lipoprotien lipase

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8
Q

What is wrong in Familial 4 Hypertriglyeridemia?

A

High triglycerides

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9
Q

What is deficient in Familial Hypertriglyceridemia 5?

A

ApoA 5

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10
Q

PCSK9 is seen in which lipid metabolism disorder?

A

Familial Hypercholesterolaemia (autosomal dominant type)

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11
Q

Dominant Homozygous Familial Hyeprcholesteroleamia is caused by which mutations?

A

PCSK9, ApoB, LDL R mutation

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12
Q

Heterozygous Familial Hypercholesterolaemia is caused by which mutations?

A

LDLRAP1

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13
Q

What features do you get in heterozygous Familial Hypercholesterolaemia ?

A

Tendon Xanthoma, Xanthelasma, Corneal Arcus

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14
Q

Which lipoprotein disorder gives you eruptive xanthoma papules?

A

Familial Hypertriglyceridemia Type 1

and Familial Dys-beta-lipoproteinaemia

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15
Q

What is the mutation in Hyper alpha lipoprotein?

A

CEPT

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16
Q

What is the mutation(s) you get in Phytosterolaemia?

A

ABC G5 and G8

17
Q

What are the causes of Mixed Hyperlipidaemia?

A
  • Familial Hepatic lipase deficiency
  • Familial combined Hyperlipidaemia
  • Familial dys-Beta-lipoprotinaemia
18
Q

Which type of fatty acids are good?

A

Cis

19
Q

Which type of fatty acids are bad?

A

Trans

20
Q

Which chylomicron protein increases risk of Alzheimer’s?

A

ApoE E4 (watch Alzheimer shows on E4)

21
Q

What symptoms do you get in ApoE E2 Type 3 deficiency? (Familial dys-beta- lipoproteinaemia?

A

Yellow palmar crease and fatty liver and eruptive xanthoma on skin

22
Q

What is the mutation in Tangier Disease?

A

ABC A1 - HDL deficiency

23
Q

What is the mutation in Hypo-beta-lipoproteinaemia?

A

Truncated apoB protein

24
Q

Which lipoprotein can be high in untreated diabetes?

A

VLDL

25
Q

Familial combined hyperlipidaemia is thought to involve an increase in synthesis of which apolipoprotein?

A

Apo B 100

26
Q

The most common cause in the Western world for secondary hyperlipidaemia?

A

Diabetes Mellitus

27
Q

There is high-density lipoprotein (HDL) deficiency as a result of ABC AI mutations?

A

Tangier Disease

28
Q

This inborn error of metabolism is tested for universally, across the United Kingdom a few days after birth?

A

MCADD (medium chain co-A dehydrogenase deficiency)

29
Q

A form of inherited disease that causes high levels of VLDL and chylomicrons in the plasma. It is sometimes due to apoA V deficiency?

A

Familial Hypertriglyceridaemia V

30
Q

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

A

Lisosomes

31
Q

Activate lipoprotein lipase via apolipoprotein C-II

A

Chylomicrons

32
Q

Particles formed when triacylglycerol and cholesterol are assembled with apolipoprotein B-100?

A

VLDL

33
Q

Encoded by the APOC2 gene?

A

Apo C II

34
Q

What does PCSK9 do?

A

Binds to LDLR and promotes its degradation (therefore increases LDL)

35
Q

Novel form of LDL therapy?

A

Anti-PCSK9 MAb