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Step 1 Study Journal > Biochemistry and Genetics > Flashcards

Biochemistry and Genetics Flashcards

1
Q

Familial chylomicronemia syndrome (Type I) AR

  • Protein defect
  • Elevated lipoproteins
  • Symptoms
A
  • LPL and APOC-II
  • Chylomicrons
  • Acute pancreatitis, lipemia retinals, eruptive xanthomas, hepatosplenomegaly
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2
Q

Familial hypercholesterolemia (Type IIA) AD

  • Protein defect
  • Elevated lipoproteins
  • Symptoms
A
  • LDL receptor, APOB-100
  • LDL
  • Premature CAD, corneal Marcus, tendon anthems, xanthelasmas
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3
Q

Familial dysbetalipoproteinemia (Type III)

  • Protein defect
  • Elevated lipoproteins
  • Symptoms
A
  • APOE
  • Chylomicron and VLDL remnants
  • Premature CAD and PVD
  • Tuboeruptive palmar xanthomas
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4
Q

Familial hypertriglyceridemia (Type IV) AD

  • Protein defect
  • Elevated lipoproteins
  • Symptoms
A
  • APOA-V
  • VLDL
  • Pancreatitis, obesity and insulin resistance association
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5
Q

APO: mediates remnant uptake

A

APO-E

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6
Q

APO: Activates LCAT

catalyzes esterification of cholesterol, matures HDL

A

APOA-I

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7
Q

aPO: LPL cofactor

A

APOC-II

Found on Chylomicrons and VLDL

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8
Q

APO: mediates chylomicron secretion

A

APOB-48

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9
Q

APO: binds LDL receptor

A

APOB-100

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10
Q

Syndrome:
Colorectal cancer, endometrial cancer, and ovarian cancer
-Name the genes and inheritance

A

Lynch syndrome

  • MSH2, MLH2, MSH6, PMS2
  • AD
  • Inactivated mutation in tumor suppressor gene
  • 2 hit loss of suppression
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11
Q

Syndrome:
Colorectal cancer, desmoids and osteomas, brain tumors
-Gene and inheritance

A

FAP

  • APC
  • AD, 2 hit loss of suppression
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12
Q

Syndrome:

Hemangioblastomas, clear cell RCC, pheochromocytoma

A

VHL

  • AD, 2 hit loss of suppression
  • c3
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13
Q

Syndrome:

Sarcomas, breast ca, brain tumors, adrenocortical carcinoma, leukemia

A

Li-Fraumeni syndrome

  • TP53
  • AD, 2-hit loss of suppression
  • AKA SBLA disease (sarcoma, breast, leukemia, adrenocortical)
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14
Q

Syndrome

-Pituitary, parathyroid, and pancreatic adenomas

A

MEN1

-AD, 2-hit loss of suppression

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15
Q

Syndrome

Medullary thyroid ca, pheochromocytoma, +/- parathyroid hyperplasia

A

MEN2A/B

  • RET oncogene
  • AD, gain of function, increases tumor growth
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16
Q

Syndrome

  • Unilateral cafe-au-alit spots, polyostotic fibrous dysplasia, precocious puberty, multiple endocrine abnormalities
  • Name the defect and biochem
A

McCune Albright Syndrome

  • G protein signaling defect
  • Mosaicism
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17
Q

Hypophosphatemic rickets

  • Whats the problem?
  • Inheritance
  • Presentation
A

The PCT is dumping too much phosphate

  • XD
  • Looks like rickets, presents in childhood, will affect all of a father’s daughters but none of his sons
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18
Q

MELAS syndrome

A

mitochondrial encephalopathy, lactic acidosis, and CNS disease
Failure in ox phase
“Ragged red fibers”
All offspring of affected femalee will have some degree of disease

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19
Q

Branching skin lesions, recurrent nose bleeds, skin discolorations, AVMs, GI bleeds, hematuria

A

Osler-Weber-Rendu syndrome (Hereditary hemorrhagic telangiectasia)
AD

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20
Q

Cafe au last spots, cutaneous neurofibromas, gliomas, pheochromocytoma, lisch nodules
100% penetrance

A

NF1

AD, c17

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21
Q

bilateral acoustic schwannomas, juvenile cataracts, meningiomas, ependymomas

A

NF2

AD, c22

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22
Q

Hamartomas in the brain, heart, and skin

Variable expression

A

Tuberous sclerosis

AD

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23
Q

Name the relevant AR disease

A

Autosomal Recessive (PKD) Albinoes Can Frequently Give Haunting Horror Stories That Will Make Phoenixes Kry

ARPKD, Albinism, CF, Glycogen storage dz, hemochromatosis, Hbs, Sphingolipidoses (not hunter), thalassemia, Wilson, mucopolysaccaridoses (not Fabry), phenylketonuria, Kartagener

24
Q

XR disorders

A

Oblivious female will often give her boys her x-Linked Disorders
Ornithine transcarbamoylase deficiency, Fabry’s, Wiskott-Aldrich, Ocular albinism, G6PD deficiency, Hunter syndrome, Bruton, Hemophilia A and B, Lesch-Nyan syndrome, Duchenne MD

25
Q

Quad screen for Down syndrome (AFP, hCG, Estriol, Inhibin A)

RECALL: PAPP-A is low in all three trisomies!!!

A

AFP low
hCG high
Estriol low
Inhibit A high

26
Q

Quad screen for Edwards syndrome

A

Edwards=EVERYTHING is low

Edwards “clenched hands”

27
Q

Quad screen for Patau syndrome

A

p is for palate, liP, holoPro, Polydactyly

Low hCG

28
Q

Cardiac anomaly with cry-du-chat

A

VSD

5p microdeletion

29
Q

Williams syndrome metabolic abnormalities

A

hypercalcemia

7q deletion, elastin gene down–>elf face

30
Q

RLE of glycolysis

A

PFK-1

AMP, F-2,6-BP +
ATP, citrate –

31
Q

RLE of gluconeogenesis

A

F-1,6-bisphosphatase

AMP, F-2,6,BP –

32
Q

RLE of TCA cycle

A

isocitrate dehydrogenase

ADP+
ATP, NADH-

33
Q

RLE of glycogenesis

A

Glycogen synthase

G-6-P, insulin, cortisol +
Epinephrine, glucagon –

34
Q

RLE of glycogenolysis

A

Glycogen phosphorylase

Epinephrine, glucagon, AMP ++
G-6-P, insulin, ATP –

35
Q

RLE of HMP shunt

A

G6PD

NADP ++
NADPH –

36
Q

RLE of De nove pyrmidine synthesis

A

Carbamoyl phosphate synthetase II

ATP, PRPP ++
UTP –

37
Q

RLE of De novo purine synthesis

A

glutamine-PRPP amidotransferase

AMP, IMP, GMP –

38
Q

Urea cycle

A

Carbamoyl phosphate synthetase I

N-acetylglutamate ++

39
Q

RLE of FA synth

A

Acetyl-CoA carboxylase (ACC)

Insulin, citrate ++
Glucagon, palmitoyl CoA –

40
Q

RLE of FA oxidation

A

Carnitine acyltransferase I

Malonyl CoA –

41
Q

RLE of ketogenesis

A

HMG-CoA synthase

42
Q

RLE of cholesterol synthesis

A

HMG-CoA reductase

Insulin, thyroxine ++
glucagon, cholesterol –

43
Q 
Severe fasting hypoglycemia
Ketosis
Hyperlipidemia
Lactic acidosis
Enlarged liver and kidneys
A

Von Gierke’s (AR)
Deficient glucose 6 phosphatase in liver and kidney
–>Enlarged liver and kidney due to accumulation of normal glycogen (G6P stimulates glycogen synthase b)

44
Q

Infant form: MR, hypotonia, cardiomegaly, death by age 2

Adult form: gradual skeletal myopathy

A

Pompe’s disease (AR)
Deficient alpha-1,4-glucosidase (acid maltase in lysosomes)
–>accumulation of normal glycogen in lysosomes
–>tissues that depend on lysosomal degradation of glycogen get messed up (the brain, heart, and muscles)

45
Q

Mild hypoglycemia
Hepatomegaly
Low free glucose after epinephrine challenge
LM shows many short branched glycogen chains in the muscle and liver

A

Cori’s disease (AR)
Deficient debranching enzyme
–>buildup of abnormal glycogen (limit dextrin)
–>epinephrine should stimulate glycogenolysis in mm and liver

46
Q

Hepatosplenomegaly
Cirrhosis
Liver failure and death by age 2
Bx shows very long chains of glycogen with few branches

A

Andersen’s (AR)
Deficient in branching enzyme (glucose 4,6 transferase)
–>buildup of abnormally long collagen chains in the liver and spleen
–>inefficient, buildup and breakdown takes too long
–>buildup of G6P–>toxic to liver and spleen

47
Q

Muscle cramping, fatigue, myoglobinuria with strenuous exercise
No lactic acidosis after exercise

A

McArdles (AR)
Deficient muscle glycogen phosphorylase
–>Muscles can’t breakdown the glycogen, quickly run low on glucose after exercise
–>Muscle fatigue due to low glucose, not buildup of lactic acid
–>Can’t even make lactic acid because of how little glucose there is!

48
Q

Early childhood
During fasting or metabolic stress, pt presents with lethargy and seizures
Pt has hepatomegaly and acute liver injury
Cannot breakdown medium-length fatty acids by beta oxidation

A

MCAD deficient (AR)

49
Q

Impaired used of long-chain fatty acids

  • mm aches, fatigue after exercise, elevated free FAs in blood, reduced ketone production during fasting
  • hypoglycemia
A

Carnitine/carnitine acyltransferase deficiency

50
Q

adrenocortical insufficiency, mental deterioration, spastic paralysis

A

adrenolebukodystrophy

defective per oxidation of FAs

51
Q

Acetoacetate is a

A

ketone

52
Q

RLE of ketone synthesis

location

A

HMG coa synthase

liver mitochondrial matrix

53
Q

three conditions with elevated ketones

A

DKA
pregnancy
starvation

54
Q

why can’t the liver use ketones for fuel?

A

it lacks succinyl col:acetoacetate col transferase

can’t make acetyl col from ketones

55
Q

acetyl coa x3–>?

A

HMG coA

56
Q

HMG coa–>mevalonate by what

A

HMG coa reductase

57
Q

List the plasma lipoproteins in order of increasing density

Which one is the biggest?

A

chylomicron, VLDL, LDL, HDL

chylomicron

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