Brainscape's Knowledge GenomeTM

Browse over 1 million classes created by top students, professors, publishers, and experts.


See full index

Wolfpacc Other > Board Prep Biochem > Flashcards

Board Prep Biochem Flashcards

1
Q

Homeobox genes

A

genes encoding for TRANSCRIPTION FACTORS crucial during embryologic development
Syndrome with mutated homeobox genes is Basal cell nevus syndrome

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
2
Q

Uncoupling agents in the mitochondria

A

increase the permeability of the inner mitochondrial membrane and decrease the number of ATP per glucose

Decreased protons in the transmembrane space

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
3
Q

Hepatic triglyceride lipase

A

breaks down triglycerides in intermediate density lipoproteins

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
4
Q

Niemann-Pick disease

A

Autosomal recessive disease due to deficiency of sphingomyelinase (increased sphingomyelin)
Ashkenazi Jewish descent
hepatosplenomegaly differentiates from Tay-sachs

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
5
Q

Ketone body synthesis disorder

A

Carnitine deficiency
urinary carnitine wasting
without carnitine, acyl-CoA is trapped in cytosol, disrupts beta-oxidation impairing ketone body synthesis

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
6
Q

Organelles in which Vitamin C is a cofactor

A

vesicles (the hydroxylation of dopamine to norepinephrine) and the endoplasmic reticulum (hydroxylation of proline and lysine on preprocollagen)

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
7
Q

Accumulation of NADH

A

several downstream effects in order to regenerate NAD+
lactic acidosis
inhibition of gluconeogenesis
increased fatty acid synthesis

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
8
Q

What organelle participates in phase I and II detoxification

A

The Smooth Endoplasmic Reticulum (which is also responsible for synthesis of phospholipids, lipoproteins, and sterols)

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
9
Q

Western blot

A

uses protein antibodies

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
10
Q

Angelman’s syndrome

A

can be worded mutation on maternal chromosome 15

or uniparental disomy from the paternal 15

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
11
Q

Cyanide on ETC

A

cells are only able to use glycolysis–> lactic acidosis
AMS, new onset seizures, hepatic failure, rhabdo(leading to renal failure)
flushed skin with tachy, tachypnea HTN –> opposite later
use Hydroxocobalamin for treatment

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
12
Q

Gaucher disease

A

Beta-glucocerebrosidase deficiency
avascular necrosis of distal femur, osteopenia, hepatosplenomegaly, thrombocytopenia
accumulation of glucocerebroside
Ashkenazi Jewish descent
macrophages filled with lipids (wrinkled paper)

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
13
Q

Krabbe disease

A

optic atrophy, seizures, and eventual death
globoid cells around the cytoplasm within the white matter (multinucleated macrophages with abundant cytoplasm)
deficiency of galactocerebrosidase
elevated galactocerebroside

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
14
Q

Fabry’s disease

A

Alpha-galactosidase A deficiency

peripheral neuropathy and renal disease

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
15
Q

Metachromatic leukodystrophy

A

Arylsulfatase A deficiency
demyelination of both central and peripheral nervous systems leading to ataxia and cognitive decline
Optic atrophy

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
16
Q

Vitamin co factor for odd-chain fatty acid metabolism

A

Vitamin B12 is needed for the conversion of Methylmalonyl-CoA to Succinyl-CoA by Methylmalonyl-CoA mutase

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
17
Q

Insulins role in glycogen synthesis

A

inactivates phosphorylase kinase by dephosphorylating it
inactivates glycogen phosphorylase a by desphosphorylation
activates UDP-glucose phosphorylase

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
18
Q

Apolipoprotein B-100

A

the only apolipoprotein associated with LDL
binds the LDL receptor on the liver
facilitates trafficking of the LDL throughout the tissues in the body

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
19
Q

Heteroplasmy

A

refers to the presence of both mutated and non-mutated mitochondrial DNA within the same cell, leading to differences in disease severity

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
20
Q

Xeroderma pigmentosum

A

Autosomal recessive defective NER

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
21
Q

Sarcoidosis

A

multisystem granulomatous disorder
noncaseating granulomas
young adults – bilateral hilar adenopathy, pulmonary reticular opacities, skin, join, eye lesions
reiculoendothelial system disease
vitamin D excess due to epitheliod macrophages

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
22
Q

Substrate level phosphorylation

A

Cytosol: 1,3-bisphosphogylcerate to 3-phosphoglycerate; and PEP to pyruvate
Mitochondria (TCA): Succinyl-CoA to succinate

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
23
Q

Homocystinuria

A

cysteine becomes an essential amino acid due to deficiency of enzyme that converts methionine to cysteine

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
24
Q

GLUT 4 transporter

A

facilitated diffusion

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
25
Q

Vitamin E deficiency

A

deficiency can lead to hemolytic anemia, muscle weakness, and neuro defects

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
26
Q

Cystathionine synthase deficiency

A

elevated homocysteine
looks marfanoid-like
increased risk of strokes
LENSES displaced DOWNWARDS

27
Q

Kwashiorkor

A

more commonly associated with hepatomegaly and anasarca

anorexia

28
Q

Function of Apolipoprotein E

A

bind LDL receptor

29
Q

Apolipoprotein A-I

A

activates lecithin acyltransferase

bound to HDL and chylomicros

30
Q

Apolipoprotein B-48

A

found on chylomicros to facilitate secretion

31
Q

Apolipoprotein C-II

A

cofactor for LPL

32
Q

Klinefelter’s syndrome labs

A 
Increased estradiol
FSH increased
Inhibin B decreased
Testosterone decreased
Elevated LH
33
Q

Alpha-1,6-glucosidase deficiency

A

Cori’s disease (glycogen storage disease type III)

hepatomegaly and hypoglycemia

34
Q

Porphyria cutanea tarda

deficiency of uroporphyrinogen decarboxylase

A

result of chronic Hep C
accumulations in uroporphyrin
present with cutaneous blisters and liver involvement
liver bx. = porphyrias as intracellular crystals (red under long wave UV light)

35
Q

Calculate LDL

A

Total= HDL+LDL+(triglycerides/5)

36
Q

Microarray

A

technique used to determine the relative differences in gene expression in one sample compared to another

37
Q

Lead poisoning

A

elevated coproporphyrin
nonspecific anemia, constipation, encephalopathy, abd pain
basophilic stippling
lead lines

38
Q

Hartnup

A

AR disorder presents like niacin deficiency
defective neutral amino acid transporter
supplement with niacin

39
Q

Aldose reductase

A

turns glucose into sorbitol which causes osmotic damage

40
Q

Citrate

A

Citrate is transported to the cytoplasm for fatty acid synthesis

41
Q

Acute intermittent porphyria

A

deficiency of porphobilinogen deaminase
leading to accumulationgs of ALA and porphobiliniogen
diffuse abd pain and red urine

42
Q

methanol toxicity

A

usually 12-24 hours after ingestion
similar to ethanol
metabolized by alcohol dehydrogenase (then into formic acid)
treat with ethanol or fomepizole

43
Q

Famiial hypercholesterolemia

A

autosomal dominant mutation causing defective LDL receptors

xanthomas on tendons

44
Q

Primary ciliary dyskinesia

A

both dynein and kinesin are involved in transport of substances within the cell

45
Q

Pompe’s disease

A

Deficient in (acid maltase) lysosomal enzyme alpha-1,4-glucosidase
glycogen accumulates in lysosomes and cytoplasm
CARDIOMYOPATHY, hypotonia, hepatomegaly

46
Q

cystinuria

A

heaxgonal crystals in urine with cystine kidney stones

treat with acetazolamide to alkalize urine

47
Q

beriberi

A

thiamine deficiency
symmertric muscle wasting as well as neuro deficits
weakness (worse in LE)

48
Q

Lafora body disease

A

rare AR disease in which many cells develop inclusion bodies known as Lafora bodies (stain with PAS which demonstrates glycogen, glycoproteins, or other carbs)

49
Q

collagen synthesis

A

in the extracellular space the two steps are cleavage of C-terminal peptides and cross-linking of lysin and hydroxylysine

50
Q

Promoter/
enhancer/
repressor

A

upstream/
anywhere/
anywhere

51
Q

Marfan’s

A

AD mutation in fibrillin gene

aortic regurg diastolic decrescendo murmur along left sternal border

52
Q

Base excision repair

A

involves cleaving damage bases from the sugar-phosphate backbone using enzymes called GLYCOSULASES

53
Q

Acute intermittent porphyria

A

accumulation of porphobilinogen and delta-aminolevulinic acid int he urine
diffuse abd pain, redurine
deficiency in porphobilniogendeaminase

54
Q

non-oxidative reactions of HMP shunt

A

involved in transformation of ribulose-5-phosphate into other sugars
these reactions are called transkeolase and transaldolase

55
Q

lipoic acid is necessary for what enzymes

A

pyruvate dehydrogenase, a-ketoglutarate dehydrogenase, and BCAA dehydrogenase
deficiency causes lactic acidosis

56
Q

nondisjunction during meiosis with identical alleles from one parent

A

anaphase II

57
Q

Rotenone poisoning

A

inhibits complex I in mitochondria, leading to symptoms consistent with Parkinson disease

58
Q

Stickler syndrome

A 
mutations in COL2A1, COL9A1, COL11A1, and COL11A2
AD pattern most common
abnormality of type II collagen
vision and hearing loss
abnormal facial features
59
Q

Protein kinase C activation

A

Gq second messenger
PIP2 synthesis–> elevated DAG and IP3
DAG activates protein kinase C
IP3 leads to increased intracellular calcium

60
Q

Heme synthesis

A

dependent upon sufficent quantities of glycine

61
Q

Mannose 6-phosphate addition to proteins

A

occurs in golgi and send to lysosomes

62
Q

Fates of pyruvate

A

Pyruvate carboxylase (oxaloacetate)
PDH (Acetyl-CoA + NADH)
LDH (Lactate +NAD+)
ALT (Alanine)

63
Q

Paget’s disease

A

leads to high-output heart failure due to presence of mini AV fistulas in the bones

Wolfpacc Other (10 decks)

Brainscape helps you reach your goals faster, through stronger study habits.
© 2024 Bold Learning Solutions. Terms and Conditions