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Wolfpacc Other > Board Prep Biochem > Flashcards

Board Prep Biochem Flashcards

(63 cards)

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1
Q

Homeobox genes

A

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

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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

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3
Q

Hepatic triglyceride lipase

A

breaks down triglycerides in intermediate density lipoproteins

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4
Q

Niemann-Pick disease

A

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

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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

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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)

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7
Q

Accumulation of NADH

A

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

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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)

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9
Q

Western blot

A

uses protein antibodies

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10
Q

Angelman’s syndrome

A

can be worded mutation on maternal chromosome 15

or uniparental disomy from the paternal 15

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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

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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)

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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

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14
Q

Fabry’s disease

A

Alpha-galactosidase A deficiency

peripheral neuropathy and renal disease

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15
Q

Metachromatic leukodystrophy

A

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

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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

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17
Q

Insulins role in glycogen synthesis

A

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

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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

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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

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20
Q

Xeroderma pigmentosum

A

Autosomal recessive defective NER

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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

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22
Q

Substrate level phosphorylation

A

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

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23
Q

Homocystinuria

A

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

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24
Q

GLUT 4 transporter

A

facilitated diffusion

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25
Vitamin E deficiency
deficiency can lead to hemolytic anemia, muscle weakness, and neuro defects
26
Cystathionine synthase deficiency
elevated homocysteine looks marfanoid-like increased risk of strokes LENSES displaced DOWNWARDS
27
Kwashiorkor
more commonly associated with hepatomegaly and anasarca | anorexia
28
Function of Apolipoprotein E
bind LDL receptor
29
Apolipoprotein A-I
activates lecithin acyltransferase | bound to HDL and chylomicros
30
Apolipoprotein B-48
found on chylomicros to facilitate secretion
31
Apolipoprotein C-II
cofactor for LPL
32
Klinefelter's syndrome labs
``` Increased estradiol FSH increased Inhibin B decreased Testosterone decreased Elevated LH ```
33
Alpha-1,6-glucosidase deficiency
Cori's disease (glycogen storage disease type III) | hepatomegaly and hypoglycemia
34
Porphyria cutanea tarda | deficiency of uroporphyrinogen decarboxylase
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
Calculate LDL
Total= HDL+LDL+(triglycerides/5)
36
Microarray
technique used to determine the relative differences in gene expression in one sample compared to another
37
Lead poisoning
elevated coproporphyrin nonspecific anemia, constipation, encephalopathy, abd pain basophilic stippling lead lines
38
Hartnup
AR disorder presents like niacin deficiency defective neutral amino acid transporter supplement with niacin
39
Aldose reductase
turns glucose into sorbitol which causes osmotic damage
40
Citrate
Citrate is transported to the cytoplasm for fatty acid synthesis
41
Acute intermittent porphyria
deficiency of porphobilinogen deaminase leading to accumulationgs of ALA and porphobiliniogen diffuse abd pain and red urine
42
methanol toxicity
usually 12-24 hours after ingestion similar to ethanol metabolized by alcohol dehydrogenase (then into formic acid) treat with ethanol or fomepizole
43
Famiial hypercholesterolemia
autosomal dominant mutation causing defective LDL receptors | xanthomas on tendons
44
Primary ciliary dyskinesia
both dynein and kinesin are involved in transport of substances within the cell
45
Pompe's disease
Deficient in (acid maltase) lysosomal enzyme alpha-1,4-glucosidase glycogen accumulates in lysosomes and cytoplasm CARDIOMYOPATHY, hypotonia, hepatomegaly
46
cystinuria
heaxgonal crystals in urine with cystine kidney stones | treat with acetazolamide to alkalize urine
47
beriberi
thiamine deficiency symmertric muscle wasting as well as neuro deficits weakness (worse in LE)
48
Lafora body disease
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
collagen synthesis
in the extracellular space the two steps are cleavage of C-terminal peptides and cross-linking of lysin and hydroxylysine
50
Promoter/ enhancer/ repressor
upstream/ anywhere/ anywhere
51
Marfan's
AD mutation in fibrillin gene | aortic regurg diastolic decrescendo murmur along left sternal border
52
Base excision repair
involves cleaving damage bases from the sugar-phosphate backbone using enzymes called GLYCOSULASES
53
Acute intermittent porphyria
accumulation of porphobilinogen and delta-aminolevulinic acid int he urine diffuse abd pain, redurine deficiency in porphobilniogendeaminase
54
non-oxidative reactions of HMP shunt
involved in transformation of ribulose-5-phosphate into other sugars these reactions are called transkeolase and transaldolase
55
lipoic acid is necessary for what enzymes
pyruvate dehydrogenase, a-ketoglutarate dehydrogenase, and BCAA dehydrogenase deficiency causes lactic acidosis
56
nondisjunction during meiosis with identical alleles from one parent
anaphase II
57
Rotenone poisoning
inhibits complex I in mitochondria, leading to symptoms consistent with Parkinson disease
58
Stickler syndrome
``` mutations in COL2A1, COL9A1, COL11A1, and COL11A2 AD pattern most common abnormality of type II collagen vision and hearing loss abnormal facial features ```
59
Protein kinase C activation
Gq second messenger PIP2 synthesis--> elevated DAG and IP3 DAG activates protein kinase C IP3 leads to increased intracellular calcium
60
Heme synthesis
dependent upon sufficent quantities of glycine
61
Mannose 6-phosphate addition to proteins
occurs in golgi and send to lysosomes
62
Fates of pyruvate
Pyruvate carboxylase (oxaloacetate) PDH (Acetyl-CoA + NADH) LDH (Lactate +NAD+) ALT (Alanine)
63
Paget's disease
leads to high-output heart failure due to presence of mini AV fistulas in the bones

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