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
heterodisomy
heterozygous indicates a meiosis I error
26
isodisomy
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)
27
hypophosphatemic rickets
X-linked dom. results in increased phosphate wasting at the proximal tubule --> rickets like presentation
28
fragile X syndrome
X-linked defect affecting the methylation and expression of the FMR1 gene; 2nd most common cause of genetic mental retardation
29
findings of fragile X syndrome
macroorchidism, long face w/ large jaw, large everted ears, autism, MVP
30
Trinucleotide repeat fragile X
CGG
31
trinucleo repeat of myotonic dystropy
CTG
32
trinucleo repeat of friedreich's ataxia
GAA
33
Down's pregnancy quad screen (21)
decrease a-fetoprotein decrease estriol increase B-hCG increase inhibin A
34
Edward's syndrome (18)
severe mental problems, rocker-bottom feet, micrognathia (small lil edward jaw), low-set ears, CLENCHED HANDS (edward scissorhands), prominent occiput, congential heart; die fast
35
Edward's pregnancy quad screen
``` decrease a-fetoprotein decrease B-hCG decrease estriol normal inhibin A (basically decrese errrrthangg) ```
36
Patau's syndrome (13)
severe mental, rocker bottom feet, microphthalmia, microcephaly, CLEFT LIP/PALATE, HOLOPROSENCEPHALY, POLYDACTYLY, congenital heart disease, die fast
37
Patau's first trimester preg screen
decrease free B-hCG | decrease PAPP-A
38
Robertsonian translocation
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
Vitamin B1 (thiamine)
pyruvate dehydrogenase (glycolysis --> TCA) a-ketoglutarate dehydrogenase (TCA) transketolase (HMP shunt) branched-chain amino acid dehydrogenase (MAPLE SYRUP YUMMM)
40
Vit B2 (riboflavin)
cofactor in oxidation and reduction (FAD2) | 2 Cs in FAD2!: cheliosis (crusty mouth, inflamm. lips, scaling and fissues); corneal vascularization
41
Vit B3 (niacin)
constituent of NAD+, NADP+; derived from tryptophan (NEED B6 TO MAKE THIS SHIT)
42
Vit B3 deficiency
``` 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
Vit B5 (pantothenate)
component of CoA --> cofactor for acyl transfers and FA synthesis; adrenal insufficiency, balding, enteritis, dermatitis
44
Vit B6 (pyridoxine)
converted to pyridoxial phosphate; cofactor in: transamination (ALT/AST) decarboxylation reactions (dopa --> dopamine) glycogen phosphorylase
45
Vit B6 involved in the synthesis of
``` cystathionine heme niacin histamine neurotransmitters: serotonin, epinephrine, norepinephrine, and GABA ```
46
Deficiency of B6
convulsions, hyperirritability, peripheral neuropathy (INH, BC), SIDEROBLASTIC ANEMIAS --> get iron excess, def. of heme
47
Vit B7 (biotin)
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
Vit B9 (folic acid)
THF --> coenzyme for 1 carbon transfer/methylation reactions; important for DNA and RNA synthesis
49
Vit B12 (cobalamin)
cofactor for homocysteine methyltransferase (transfers CH3 groups as methylcobalamin) and methylmalonyl-CoA mutase
50
SAM
ATP + methionine needs Vit B12 and folate for regen of methionine required for conversion of NE to EPI
51
Vit C
keeps iron in Fe2+ reduced state so promotes absorption hydroxylation of proline and lysine in collagen synthesis dopamine B hydroxylase: dopamine to NE
52
zinc def
delayed wound healing, hypogonadism, decreased adult hair(axiallary, facial, pubic), dysgeusia, anosmia, may predispose to alcoholic cirrhosis
53
NAD+
used in catabolic processes to carry reducing equivalents away as NADH
54
NADPH
anabolic processes as a supply of reducing equivalents (FA and steroid synthesis); product of HMP shunt; respiratory burst, P450, glutathione reductase
55
what inhibits lipoic acid
arsenic; vomiting, rice water stools, garlic breath
56
pyruvate dehydrogenase complex deficiency
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
pyruvate metabolism: lactic acid dehydrogenase (B3)
end of anaerobic glycolysis (major pathway in RBCs,leukocytes, kidney medulla, lens, testes, cornea) Cori cycle
58
pyruvate metabolism: alanine aminotransferase (B6)
alanine carries amino groups to the liver from the muscle; Cahill cycle
59
rotenone blocks
complex 1 in ETC
60
antimycin A blocks
complex 3
61
cyanide/ CO block
complex 4 --> stuck in Fe3+ so can't carry oxygen
62
oligomycin blocks
complex 5 (ATP synthase inhibitor)
63
why can't even-chain fatty acids produce new glucose?
yield only acetyl-CoA equivalents
64
how do odd chain FA contribute to gluconeogensis?
propionyl CoA --> malonyl CoA--> succinyl CoA--> OAA
65
Fructose intolerance
deficiency of aldose B; AR; F1P accumulates causing a decrease in available phosphate --> inhibits glycogenolysis and gluconeogensis
66
SE of fructose intolerance
hypoglycemia, jaundice, cirrhosis, vomiting
67
which tissues have both aldose reductase and sorbitol dehydrogenase
liver, lens, ovaries, and seminal vesicles
68
which tissues ONLY have aldose reductase
schwann cells, retina, kidneys
69
glucogenic AA (essential)
met, val, his
70
glucogenic/ketogenic AA (essential)
ile, phe, thr, trp
71
ketogenic AA (essential)
leu, lys
72
acidic AA
Asp, Glu
73
basic AA
arg, lys, and his (arg and his are required during periods of growth) (arg and lys are increased in histones)
74
treatment for hyperammonemia
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
Alkaptonuria (ochronosis)
congenital deficiency of homogentistic acid oxidase in the degradative pathway of tyrosine to fumarate; AR; benign
76
Findings of alkaptonuria
dark connective tissue, brown pigmented sclera, urine turns black on prolonged exposure to air; may have bad arthralgias
77
Krabbe's disease
peripheral neuropathy, developmental delay, optic atrophy, globoid cells
78
Krabbe's disease enzyme deficiency
galactocerebrosidase
79
Krabbe's disease substrate accumulated
galactocerebroside
80
Metachromatic leukodystrophy
central and peripheral demyelination with ataxia and dementia
81
Metachromatic leukodystrophy enzyme deficiency
arylsulfate A
82
metachromatic leukodystrophy substrate accumulated
cerebroside sulfate
83
acyl-CoA dehydrogenase deficiency
increase dicarboxylic acids | decrease glucose and ketones
84
carnitine deficiency
inability to transport LCFAs into the mitochondria, resulting in toxic accumulation; weakness = hypotonia, hypoketotic hypoglycemia
85
LPL
degradation of TG circulating in chylomicrons and VLDLs
86
HL
degradation of TG remaining in IDL
87
chylomicron
delievers TG to peripheral tissues; delivers cholesterol to liver in form of chylomicron remnants, which are mostly depleted of their TGs
88
what are chylomicrons secreted by
intestinal epithelial cells
89
what is vldl secreted by
liver
90
what is ldl formed by
formed by hepatic lipase modification of IDL in the peripheral tissue; taken up by target cells via receptor mediated endocytosis
91
HDL
secreted by liver and intestine
92
I hyperchlyomicronemia
AR. lipoprotein lipase deficiency or altered apolipoprotein CII; causes pancreatitis, hepatosplenomegaly, and eruptive/pruritic xanthomas (no risk for atherosclerosis)
93
IIa-familial hypercholesterolemia
AD; absent or decrease LDL receptors; causes accelerated atherosclerosis, tendon xanthomas, and corneal arcus
94
IV hypertriglyceridemia
AD; hepatic overproduction of VLDL; pancreatitis