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Flashcards in Other Deck (109)
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1

N-formylmethionine (fMet) role

1. Initiation amino acid in prokaryotes
2. Neutrophil chemotaxis

2

Introns can contain

miRNA genes

3

Cistinuria - treatment

Urinary alkalization (potassium citrate, acetazolamide), chelation agents (penicillamin)

4

Golgi apparatus function

1. Modifies N-oligosaccharides on Aspargine
2. Adds O-Oligosacch on SERINE + THREONINE
3. Adds Mannose-6-p

5

Procollagen bonds

hydrogen + disulfide

6

protein synthesis direction

N-terminus to C

7

intros sequence

GU....AG

8

tRNA activates energy

1. charging - ATP
2. initiation pr synthesis - GTP
3. ribosomes translocation - GTP

9

Pyridoxine function

1. transamination
2. decarboxylation
3. glycogen phosphorylase
CYSTATHIONE, heme, niacin, HISTAMINE, SERETONIN,, epinephrin, norepin, dopamine, GABA`

10

Tuberous scleoris - phenotype expression features

INCOMPLETE PENETRANCE
variable expression

11

Duchenne gait, MCC of death

1. waddling gait
2. Dilated cardiomyopathy

12

Pompe disease findings

1. Cardiomyopathy
2. hypertr cardiomyopathy
3. exercie intolerance
4. systemic findings leading to early death

13

HMG-coa reductase regulators

+ insulin, T4
- Glucagon, cholesterol

14

ATP production - pathways

malate-aspartate --> 32
Glycerol-3-P --> 30
Anaerobic --> 2

15

NADPH is used in

1. anabolic (not ketones)
2. P450
3. Respiratory burst
4. Glutathione reductase

16

Pyruvate to lactate - major pathway in which tissues

1. RBCs 2. testicles 3. leukocytes
4. lens 5. kidney medulla 6. cornea

17

inhibitors of every step in REDOX

1. complex 1 --> rotenone
2. complex 2 --> antimycin A
3. complex 4 --> cyanide, CO
4. complex 5 --> oligomycin
5. uncoupling agents --> dinitrophenol, aspirin, thermogenein

18

gluconeogenesis tissues

liver
intestine
kidney

19

fatty acids/gluconeogenesis

even chain --> cannot produce since only acetyl-coa
odd chain --> yield one propionyl-coa --> succinyl coa --> glucose

20

sites of HM shunts (organs)

fatty acid or steroid synthesis
1. RBCs
2. lactating mammary glands
3. liver
4. adrenal

21

Tissue with sorbitol dehydrogenase

1. ovaries
2. seminal vesicles
3. liver

22

Tissue without sorbitol dehydrogenase

1. scwann
2. retina
3. kindey
4. lens

23

essential glucogenic ketogenic aminoacids

1. phenylalanine
2. tryptophan
3. threonine
4. isoleucine

24

hyperammonemia treatment

1. limit protein
2. lactulose
3. Neomycin + rifamixin
4. Phenylbutyrate or Benzoate --> bind aminoacid + lead to excretion

25

mechanism of hypoglycemia in acyl-coa dehydrogenase deficiency

acyl-coa is a + allosteric regulator of pyruvate carboxylase

26

types of ketone bodies (+ tests)

acetone
acetoacetate
β-hydroxybutyrate (not in urine)

27

MC heart defect in Turner (and ausculation)

bicuspid aortic valve (20-30%) --> early systolic, high frequency click over the riht second intespace
(other heart defect is coartraction 3-10%)

28

familiar hypercholesterolemia - type of mutation

frameshift

29

Syndromes with shortened telomeres

syndromes with premature aging (eg. Bloom syndrome)

30

GAA in frataxin --> ...

decreased translation (NOT TRUNCATED)