Biochem Flashcards

1
Q

leukotriene targeted drugs

A

montelukast

zileutin

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2
Q

Rb

A

tumor suppressor

osteosarcoma, retinoblastoma

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3
Q

Niacin side effects

A

flushing of the face

can be aleviating by taking aspirin

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4
Q

Cystinuria

A

AR
defect in aa transporter for
cysteine, orthithine, lysine, arginine
recurrent stones

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5
Q

Chediak-Higashia syndrome mechanism

A

microtubule polymeraization defect leading to decreased phagocytosis

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6
Q

vincristine

A

Mphase specific

prevents microtubule polymeralization

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7
Q

Chediak HIgashi syndrome symptoms

A

recurrent pyogenic infections

partial albinism

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8
Q

vit c

A

proline hydroxylation in collagen synthesis

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9
Q

McArdle’s disease

A

AR
glycogen phosphorylase
increased glycogen in muscle that can’t be broken down
painful cramps, myoglobinuria

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10
Q

RNA polymerase I

A

makes rRNA

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11
Q

RNA polymerase II

A

makes mRNA

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12
Q

RNA polyermase III

A

makes tRNA

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13
Q

alpha-amanitin

A

inhibits RNA polyermase II

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14
Q

Kwashiorkor

A
protein malnutrition (tryptophan and lysine)
Malnutrition, Edema, Anemia, Liver
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15
Q

21-hydroxylase def

A

decreased mc: hypotension, hyperkalemia

pseudoherm in females

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16
Q

17alpha-hydroxylase def

A

increased mc: hypertension, hypokalemia

males: ambiguous genitalia/undescended testes
females: normal, lack 2 sex characteristics

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17
Q

11b-hydroxylase def

A

decreased aldosterone, increased c: hypertension

masculinization

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18
Q

rate limiting enzyme of fatty acid synthesis

A

acetyl-CoA carboxylase

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19
Q

treatment for uterine leiomyomas

A

GnRH agonist/leuprolide

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20
Q

sympathetic alpha one

A

increases vascular smooth muscle contraction

Gq (phospholipase c)

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21
Q

phospholipase C

A

PIP2 –> Dag and IP3

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22
Q

DAG

A

protein kinase 3

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23
Q

IP3

A

Ca –> smooth muscle contraction

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24
Q

sympathetic alpha two

A

decreased sympathetic outflow

qi (adenylyl cylase)

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25
adenylyl cyclase
Camp --> protein kinase a
26
protein kinase a
increased ca in heart | myoslin light chain kinase (smooth muscle)
27
sympathetic beta one
``` increased heart rate, contractility adenylyl cyclase (gs) ```
28
sympathetic beta two
vasodilation, bronchodilation increases HR and contractility Gs (adenylyl cyclase)
29
Niacin/B3 def
diarrhea, dermatitis, dementia
30
fatty liver in alcoholics
increased NADH:NAD ratio
31
first step of urea cycle
occurs in hepatocyte mitochondria | ornithine + carbamyl phosphate --> citrulline
32
Hartnup disease
AR defective neutral amino acid transporter tryptophan excretion in urine, can lead to pellagra
33
I cell disease
addition of mannose-6-phosphate to lysosome proteins
34
mannose-6-phosphate
add to traffick to lysosomes
35
nitroprusside
cyanide toxicity (cherry red lips)
36
mechanisms of cyanide toxicity
inhibit mitochondrial cytochrome oxidase | binds ferrous ion in hemoglobin
37
hereditary nonpolyposis colon cancer
mismatch repair defect
38
alpha ketoacid dehydrogenase def
maple syrup urine disease (AR)
39
homogentistic acid oxidase def
alkaptonuria (AR)
40
decreased phenylalanine hydroxylase
PKU (AR)
41
decreased tetrahydrobiopterin cofactor
PKU (AR)
42
cystathionine synthase def
homocystinuria (AR)
43
homocysteine methyltransferase def
homocystinuria (AR) | requires B12!
44
Maple Syrup Urine Disease
blocked degradation of branched AA (Ile, Leu, Val) | decreased alpha ketoacid dehydrogenase
45
electron carriers
NADH NADPH FADH2
46
acyl group carriers
coenzyme A | lipoamie
47
1 carbon unit carriers
tetrahydrofolates
48
aldehyde carriers
TPP
49
Ch3 carriers
SAM
50
Co2 carriers
Biotin
51
NAD+/NADP+ vitamin
B3
52
FAD+ vitamin
B2
53
NAD+ used in
catabolic processes
54
NADPH used in
anabolic processes respiratory bust p450 glutathione reducase
55
Li-Fraumeni syndrome
p53
56
Lesch-Nyhan syndrome
``` def in purine salvage due to absence of HGPRT results in excess uric acid production and de novo purine synthesis ```
57
Lesch-Nyhan syndrome transmission
x linked recessive
58
Lesch-Nyhan symptoms
retardation, self mutilation hyperuricemia/gout B12 def choreoathetosis
59
donepezil
ache inhibitor (alzheimer's treatment)
60
hypertriglyceridemia treatment
fibrates (increase activity of lipoprotein lipase)
61
hexokinase
high affinity/low Km low Vmax inhibited by g6p
62
glucose --> glucose 6 p
hexokinase or glucokinase
63
glucokinase
Liver and B cells of pancreas low affinity/high Km high Vmax induced by insulin
64
SGLT location
enterocytes, nephrons
65
GLUT-1
insulin independent | RBCs, brain
66
GLUT-2
bidirectional | B islet cells, liver, kidneys, small intestine
67
GLUT-4
insulin dependent | adipose and skeletal tissue
68
phosphorylation of mannose residues location
cis Golgi
69
renal gluconeogenesis
fructose-1,6,-biphosphatase is rate limiting
70
Southern Blot
DNA
71
Northern Blot
RNA
72
cardiolipin
phospholipid on inner mitochondrial membrane | syphilis has Abs against
73
rate limiting step of glycolysis
fructose 6 phosphate to fructose 1,6 bisphosphonate PPFK citrate inhibits PPFK
74
homocystinuria vitamin link
B6 as cofactor
75
porphobilinogen deaminase def
acute intermittent porphyria
76
Wernicke's Aphasia
located in left superior and middle temporal lobe | speak but make no sense
77
endothelial cells normally have
NO, prostacyclin to prevent plaque formation
78
S phase of cell cycle
DNA is synthesized
79
PCOS treatment
spirolactone
80
accumulation of cerebroside sulfate
metachromatic leukodystrophy/def of airsulfatase A
81
urinary reducing substances
galactosemia
82
symptoms of maple syrup urine disease
hypoglycemia | CNS defects, death
83
V2 Receptor
Gs (adenylate cyclase)
84
ACEI and g proteins
decreases Gq activity
85
location of rxns of glycogenesis and glycogenolysis
cytoplasm
86
Beta blockers not given with cocaine use
unopposed alpha effects
87
paclitaxel
m phase, disrupts mitotic spindle
88
Hemoglobin left shift
decreased H, 2,3DPB, temp
89
Radiation
DNA ds breaks | formation of free radicals
90
telomerase
RNA dep DNA polymerase
91
TTAGGG
added by telomerase
92
hypoglycemia, hypoketonia
MCAD def | acyl-coa DH
93
Vitamin A toxicity
skin changes | hepatic injury
94
Essential fructosuria
asymptomatic, AR defect in fructokinase fructose appears in blood and urine
95
Biotin required for
pyruvate, acetyl coA, propionyl, and betamethylcrotonyl coa CARBOXYLASE
96
acid alpha glucosidase
Pompe's disease (lysosomal)
97
pantothenic acid
coenzyme A
98
TCA cycle first step
coenzyme A + oxaloacetate --> citrate (citrate synthase)
99
HMP shunt
source of NADPH from glucose-6-phosphate | no ATP used
100
locations where HMP shunt happens
lactating mamary glands liver adrenal cortex RBCs
101
endothelial dependent vasodilation
NO from arginine
102
Xeroderma pigmntous
defect in UV endonuclease
103
stop codons
UAA UAG UGA
104
aldolase B
fructose intolerance | decrease intake of both fructose and sucrose
105
rRNA synthesis location
nucleolus
106
galactoyl B-14 glucose
lactose
107
transfer tRNA
3' CCA tail | thymidine
108
TNF alpha activates
serine kinases
109
treatment of measles
vitamin A
110
vit def and cardiac symptoms
beriberi/vitamin B1
111
PRPP
accumulates in leesch-nyhan
112
homeobox
transcription regulators
113
thyroid hormone - type of receptors
nuclear
114
myc
transcription factors
115
long fatty acid and amino acid synthesis location
peroxisomes
116
orotic aciduria
defect in UMP synthase/can't convert orotic acid to UMP | megoblastic anemia
117
desmin stain
muscle
118
vimentin stain
connective tissue
119
cytokeratin stain
epithelial cells
120
GFAP stain
neuroglia
121
cardiac glycosides
inhibit Na/K ATPase
122
type I collagen
bone, skin, tendon
123
type II collagen
cartilage
124
type III collagen
reticulin
125
type IV collagen
basement membrane or basal lamina
126
prader willi syndrome
paternal allelle not expressed | hyperphagia, obesity
127
angelman's syndrome
materinal allele not expressed | inappropriate laughter
128
mitochondrial myopathies
myopathy and CNS disease | ragged red fibers
129
PKD1
chromosome 16
130
APC gene
chromosome 5 ( 5 letters in polyp)
131
NF1
ch17
132
NF2
ch22
133
CFTR gene
ch7
134
Cri-du-chat
microdeletion of short arm of chromosome 5 | VSD
135
fissures at corner of mouth
Vit b2/riboflavin
136
niacin derived from
tryptophan
137
biotin def
excess ingestion of raw eggs (avidin)
138
vitamin b9
folic acid
139
SAM composed of
ATP and methionine | depends on vitb12 and folate
140
homocysteine converted into
methionine
141
dopamine B hydroxylase
dopamine --> NE | need vitamin c for rxn
142
D3
cholecalciferol | milk, sun exposed skin
143
alcohol DH
cytosol | ethanol --> acetaldehdyge (requireds NAD)
144
acetaldehyde DH
mitochondria | acetaldehyde --> acetate (requires NAD)
145
fomepizole
inhibits alcohol DH
146
disulfiram
inhibits acetaldehyde DH
147
marasmus
muscle wasting
148
what happens in cytoplasma
glycolysis fatty acid synthesis HMP shunt, cholesterol synthesis protein synthesis -RER, steroid synthesis on SER
149
what happens both in mitochondria and cytoplasm
HUG | heme synthesis, urea cycle, gluconeogensis
150
glyclosis rate limiting enzyme
PFK-1
151
gluconeogensis rate limiting enzyme
fructose 1,6 bisphosphatase
152
TCA cycle rate limiting enzyme
isocitrate DH
153
glycogen synthesis RLE
glycogen synthase
154
glyocenolysis RLE
glycogen phosphorylase
155
HMP shunt RLE
G6PD
156
de novo pyrimidine synthesis RLE
carbamoyl phosphate synthetase II
157
de novo purine synthesis RLE
glutamine-PRPP amidotransferase
158
urea cycle RLE
carbamoyl phosphate sythetase I
159
fatty acid synthesis RLE
acetyl coa carboxylase
160
fatty acid oxidation RLE
carnitine acyltransferase I
161
ketogensosi RLE
hmg-coa synthase
162
cholesterol synthesis RLE
hmg-coa reducatase