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Random Biochem Facts Flashcards

1
Q

What does golgi modify (cell trafficking)

A

N-oligosaccharides on asparagine; adds O-oligosaccharides on serine and threonine; adds mannose-6-phospate to proteins for trafficking to lysosomes

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2
Q

Endosomes

A

sorting centers for material from outside of the cell or from the golgi, sending it to lysosomes for destruction or back to the membrane/Golgi for further use

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3
Q

I-cell Disease

A

inherited lysosomal storage disorder –> failure of addition of mannose-6 phosphate to lysosome proteins (enzymes are secreted outside the cell instead of being targeted to the lysosome)

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4
Q

I-cell Disease clinical features

A

coarse facial features, clouded corneas, restricted joint movement, and high plasma lysosomal enzymes

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5
Q

Immuno stain for (structural) intermediate filament: Vimentin

A

connective tissues

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6
Q

Immuno stain for (structural) intermediate filament: Desmin

A

muscle

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7
Q

Immuno stain for (structural) intermediate filament: cytokeratin

A

epithelial cells

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8
Q

Immuno stain for (structural) intermediate filament: GFAP

A

neuroglia

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9
Q

Immuno stain for (structural) intermediate filament: neurofilaments

A

neurons

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10
Q

ouabain

A

inhibits binding to K+ site (fucks up Na+/K+ ATPase)

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11
Q

type 1 collagen

A

most common; bone, skin, tendon, dentin, fascia, cornea, LATE WOUND REPAIR

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12
Q

type 2 collagen

A

cartilage (also hyaline), vitreous body, nucleus pulposus

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13
Q

type 3 collagen

A

reticulin - skin, blood, vessels, uterus, fetal tissue, granulation tissue EARLY WOUND REPAIR

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14
Q

type 4 collagen

A

basement membrane or basal lamina

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15
Q

Synthesis of collagen (RER inside fibroblast)

A

translation of collagen alpha chains (preprocollagen) –> Gly-X-Y

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16
Q

Hydroxylation of collagen (ER, inside fibroblast)

A

hydroxylation of specific proline and lysine residues (requires Vit C) (SCURVY)

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17
Q

Glycosylation (ER, inside fibroblast)

A

glycosylation of pro-alpha chain hydroxylysine residues and formation of procollagen via hydrogen and disulfide bonds (triple helix of 3 collagen alpha chains) {PROBLEM W/ OSTEOGENSIS IMPERFECTA)

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18
Q

Proteolytic processing (outside of fibroblast)

A

cleavage of disulfide-rich terminal regions of procollagen, transforming it into insoluble tropocollagen

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19
Q

cross-linking (outside of fibroblast)

A

reinforcement of many staggered tropocollagen molecules by covalent lysine-hydroxylysine (Cu2+ containing lysyl oxidase) to make collagen fibrils (EHLERS-DANLOS)

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20
Q

southwestern blotting

A

identifieds DNA-binding proteins (TF) using labeled oligonucleotide probes

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21
Q

gene expression modifications: cre-lox system

A

inducibly manipulate genes at specific developmental points using an antibiotic-controlled promotor ( to study a gene whose deletion causes embryonic death)

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22
Q

gene expression modifications: RNA interference (RNAi)

A

dsRNA is synthesized that is complementary to the mRNA sequence of interest; when transfected into human cells, dsRNA separates and promotes degradation of target mRNA, knocking down gene expression

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23
Q

heteroplasmy

A

presence of both normal and mutated mtDNA, resulting in variable expression in mitochondrial inherited disease

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24
Q

uinparental disomy

A

offspring receives 2 copies of chromosome from 1 parent and no copies from the other parent

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25
Q

heterodisomy

A

heterozygous indicates a meiosis I error

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26
Q

isodisomy

A

homozygous indicates a meiosis II error or postzygotic chromosomal duplication of one of a pair of chromosomes, and loss of the other of the original pair (Wtf)

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27
Q

hypophosphatemic rickets

A

X-linked dom. results in increased phosphate wasting at the proximal tubule –> rickets like presentation

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28
Q

fragile X syndrome

A

X-linked defect affecting the methylation and expression of the FMR1 gene; 2nd most common cause of genetic mental retardation

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29
Q

findings of fragile X syndrome

A

macroorchidism, long face w/ large jaw, large everted ears, autism, MVP

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30
Q

Trinucleotide repeat fragile X

A

CGG

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31
Q

trinucleo repeat of myotonic dystropy

A

CTG

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32
Q

trinucleo repeat of friedreich’s ataxia

A

GAA

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33
Q

Down’s pregnancy quad screen (21)

A

decrease a-fetoprotein
decrease estriol
increase B-hCG
increase inhibin A

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34
Q

Edward’s syndrome (18)

A

severe mental problems, rocker-bottom feet, micrognathia (small lil edward jaw), low-set ears, CLENCHED HANDS (edward scissorhands), prominent occiput, congential heart; die fast

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35
Q

Edward’s pregnancy quad screen

A 
decrease a-fetoprotein 
decrease B-hCG
decrease estriol
normal inhibin A
(basically decrese errrrthangg)
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36
Q

Patau’s syndrome (13)

A

severe mental, rocker bottom feet, microphthalmia, microcephaly, CLEFT LIP/PALATE, HOLOPROSENCEPHALY, POLYDACTYLY, congenital heart disease, die fast

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37
Q

Patau’s first trimester preg screen

A

decrease free B-hCG

decrease PAPP-A

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38
Q

Robertsonian translocation

A

13,14,15,21,22 –> when the long arms of 2 acrocentric chromosomes fuse at the centromere and the 2 short arms are lost (Fuck!) –> miscarriage, stillbirth, and chromosomal imbalance (Down, Patau’s)

39
Q

Vitamin B1 (thiamine)

A

pyruvate dehydrogenase (glycolysis –> TCA)
a-ketoglutarate dehydrogenase (TCA)
transketolase (HMP shunt)
branched-chain amino acid dehydrogenase (MAPLE SYRUP YUMMM)

40
Q

Vit B2 (riboflavin)

A

cofactor in oxidation and reduction (FAD2)

2 Cs in FAD2!: cheliosis (crusty mouth, inflamm. lips, scaling and fissues); corneal vascularization

41
Q

Vit B3 (niacin)

A

constituent of NAD+, NADP+; derived from tryptophan (NEED B6 TO MAKE THIS SHIT)

42
Q

Vit B3 deficiency

A 
Glossitis; 3 D's of B3 --> diarrhea, dermatitis, dementia (pellagra) (can be caused by Hartnup --> decreased tryptophan absorption)
malignant carcinoid (increased tryp metabolism)
INH (decreased B6 --> damn TB drugs)
43
Q

Vit B5 (pantothenate)

A

component of CoA –> cofactor for acyl transfers and FA synthesis; adrenal insufficiency, balding, enteritis, dermatitis

44
Q

Vit B6 (pyridoxine)

A

converted to pyridoxial phosphate; cofactor in:
transamination (ALT/AST)
decarboxylation reactions (dopa –> dopamine)
glycogen phosphorylase

45
Q

Vit B6 involved in the synthesis of

A 
cystathionine
heme
niacin
histamine
neurotransmitters: serotonin, epinephrine, norepinephrine, and GABA
46
Q

Deficiency of B6

A

convulsions, hyperirritability, peripheral neuropathy (INH, BC), SIDEROBLASTIC ANEMIAS –> get iron excess, def. of heme

47
Q

Vit B7 (biotin)

A

cofactor for carboxylation enzymes (add 1 carbon group)
pyruvate carboxylase: pyruvate –> OAA (4)
acetyl-CoA carboxylase: acetyl-CoA –> malonyl coA (3)
propionyl-CoA carboxylase: propionyl-CoA –> methylmalonyl-CoA(4)

48
Q

Vit B9 (folic acid)

A

THF –> coenzyme for 1 carbon transfer/methylation reactions; important for DNA and RNA synthesis

49
Q

Vit B12 (cobalamin)

A

cofactor for homocysteine methyltransferase (transfers CH3 groups as methylcobalamin) and methylmalonyl-CoA mutase

50
Q

SAM

A

ATP + methionine
needs Vit B12 and folate for regen of methionine
required for conversion of NE to EPI

51
Q

Vit C

A

keeps iron in Fe2+ reduced state so promotes absorption
hydroxylation of proline and lysine in collagen synthesis
dopamine B hydroxylase: dopamine to NE

52
Q

zinc def

A

delayed wound healing, hypogonadism, decreased adult hair(axiallary, facial, pubic), dysgeusia, anosmia, may predispose to alcoholic cirrhosis

53
Q

NAD+

A

used in catabolic processes to carry reducing equivalents away as NADH

54
Q

NADPH

A

anabolic processes as a supply of reducing equivalents (FA and steroid synthesis); product of HMP shunt; respiratory burst, P450, glutathione reductase

55
Q

what inhibits lipoic acid

A

arsenic; vomiting, rice water stools, garlic breath

56
Q

pyruvate dehydrogenase complex deficiency

A

x-linked gene for E1-a subunit; neuro problems in infancy; tx: increase intake of ketogenic nutrients (high fat, increase in ketogenic AA: lysine and leu)

57
Q

pyruvate metabolism: lactic acid dehydrogenase (B3)

A

end of anaerobic glycolysis (major pathway in RBCs,leukocytes, kidney medulla, lens, testes, cornea) Cori cycle

58
Q

pyruvate metabolism: alanine aminotransferase (B6)

A

alanine carries amino groups to the liver from the muscle; Cahill cycle

59
Q

rotenone blocks

A

complex 1 in ETC

60
Q

antimycin A blocks

A

complex 3

61
Q

cyanide/ CO block

A

complex 4 –> stuck in Fe3+ so can’t carry oxygen

62
Q

oligomycin blocks

A

complex 5 (ATP synthase inhibitor)

63
Q

why can’t even-chain fatty acids produce new glucose?

A

yield only acetyl-CoA equivalents

64
Q

how do odd chain FA contribute to gluconeogensis?

A

propionyl CoA –> malonyl CoA–> succinyl CoA–> OAA

65
Q

Fructose intolerance

A

deficiency of aldose B; AR; F1P accumulates causing a decrease in available phosphate –> inhibits glycogenolysis and gluconeogensis

66
Q

SE of fructose intolerance

A

hypoglycemia, jaundice, cirrhosis, vomiting

67
Q

which tissues have both aldose reductase and sorbitol dehydrogenase

A

liver, lens, ovaries, and seminal vesicles

68
Q

which tissues ONLY have aldose reductase

A

schwann cells, retina, kidneys

69
Q

glucogenic AA (essential)

A

met, val, his

70
Q

glucogenic/ketogenic AA (essential)

A

ile, phe, thr, trp

71
Q

ketogenic AA (essential)

A

leu, lys

72
Q

acidic AA

A

Asp, Glu

73
Q

basic AA

A

arg, lys, and his (arg and his are required during periods of growth) (arg and lys are increased in histones)

74
Q

treatment for hyperammonemia

A

limit protein; benzoate or phenylbutyrate (both bind to AA and lead to excretion); lactulose to acidify the GI tract and trap NH4+ for excretion

75
Q

Alkaptonuria (ochronosis)

A

congenital deficiency of homogentistic acid oxidase in the degradative pathway of tyrosine to fumarate; AR; benign

76
Q

Findings of alkaptonuria

A

dark connective tissue, brown pigmented sclera, urine turns black on prolonged exposure to air; may have bad arthralgias

77
Q

Krabbe’s disease

A

peripheral neuropathy, developmental delay, optic atrophy, globoid cells

78
Q

Krabbe’s disease enzyme deficiency

A

galactocerebrosidase

79
Q

Krabbe’s disease substrate accumulated

A

galactocerebroside

80
Q

Metachromatic leukodystrophy

A

central and peripheral demyelination with ataxia and dementia

81
Q

Metachromatic leukodystrophy enzyme deficiency

A

arylsulfate A

82
Q

metachromatic leukodystrophy substrate accumulated

A

cerebroside sulfate

83
Q

acyl-CoA dehydrogenase deficiency

A

increase dicarboxylic acids

decrease glucose and ketones

84
Q

carnitine deficiency

A

inability to transport LCFAs into the mitochondria, resulting in toxic accumulation; weakness = hypotonia, hypoketotic hypoglycemia

85
Q

LPL

A

degradation of TG circulating in chylomicrons and VLDLs

86
Q

HL

A

degradation of TG remaining in IDL

87
Q

chylomicron

A

delievers TG to peripheral tissues; delivers cholesterol to liver in form of chylomicron remnants, which are mostly depleted of their TGs

88
Q

what are chylomicrons secreted by

A

intestinal epithelial cells

89
Q

what is vldl secreted by

A

liver

90
Q

what is ldl formed by

A

formed by hepatic lipase modification of IDL in the peripheral tissue; taken up by target cells via receptor mediated endocytosis

91
Q

HDL

A

secreted by liver and intestine

92
Q

I hyperchlyomicronemia

A

AR. lipoprotein lipase deficiency or altered apolipoprotein CII; causes pancreatitis, hepatosplenomegaly, and eruptive/pruritic xanthomas (no risk for atherosclerosis)

93
Q

IIa-familial hypercholesterolemia

A

AD; absent or decrease LDL receptors; causes accelerated atherosclerosis, tendon xanthomas, and corneal arcus

94
Q

IV hypertriglyceridemia

A

AD; hepatic overproduction of VLDL; pancreatitis

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