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Step 1 > Test 28- BC > Flashcards

Test 28- BC Flashcards

1
Q

negative G

A

Free energy of products is LOWER than that of substrates

favors PRODUCT formation

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2
Q

positive G

A

free energy of products is HIGHER than substrates

favors SUBSTRATE formation

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3
Q

Deletion/insertion of a number of base pairs (nucleotides) that are NOT multiples of three (126> 124 bp)

A

FRAME SHIFT MUTATION

alter reading of genetic code> non functional proteins

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4
Q

MC CFTR mutation

A

codon deletion of phenylalanine at position 508

**also possible to get frameshift mutation caused by 2 bp deletion in the CFTR protein

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5
Q

codon deletion

A

deletion of one or more entire codon (genetic triplet code)

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6
Q

amatoxin

A

found in poisonous mushroom

Inhibits RNA pol II halting mRNA synthesis

(RNA pol II makes mRNA, largest> MASSIVE)

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7
Q

pathology that occurs secondary to x linked mutation affecting the PRPP synthetase gene leading to an INCREASED substrate concentration

A

Gout

occurs in pts w/ activating mutations involving PRPP synthetase>
increased production/degradation of purines

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8
Q

first line therapy for treating acute gouty arthritis

A

NSAIDS

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9
Q

right knee pain and swellling caused by gout should be treated w/ a drug that targets what type of cells

A

NSAIDS> inhibit COX> exert braod anti-inflammatory effect> inhibits neutorphils

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10
Q

acute gout drug taht inhibits neutrophil chemotaxisa nd phagocytosis by preventing microtuble formation

A

colchicine

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11
Q

def of neutral aa trasnporters in proximal renal tubular cells and on enterocytes

A

Hartnup Disease (specifically TRYPTOPHAN)

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12
Q

niacin def

A

loss of dietary tryptophan (Hartnups disease)

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13
Q

ataxia
episodic erythematous and pruritis skin lesions
loose stools

A

niacin def

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14
Q

inhibits initiation of protein synthesis by binding to and distoring structure of prokaryotic 30S ribosome

A

Streptomycin–STOPS initiation complex formation and causes misreading of MRNA by binding to the 30S subunit

gentamicin
neomycin
amikacin
tobramycin
streptomycin
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15
Q

interfere w/ binding of aminoacyl tRNA to A site

A

Tetracyclines (tRNA site)

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16
Q

elastin’s plasticity and ability to recoil is d/t

A

interchain crosslinking involving lysine

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17
Q

contains unusual nucleosides like pseudouridine and thymidine

A

tRNA

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18
Q

what sequence is at the 3’ end of tRNA and is used as a recognition sequence by proteins?

A

CCA

3’ hydroxyl group of the CCA tail is used as a binding site for the AA

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19
Q

TATA box

A

upstream promoter region (TFs bind here to initate unwinding and separating of DNA)

20
Q

maturation process of precursor mRNA

A

addition of poly A tail at 3’ end
methylguanosine cap at 5’ end
removal of introns

21
Q

what happens if a tRNA is mischarged w/ the incorrect AA

A

incorporates WRONG AA into growing polypeptide chain (no proof reading during protein translation)

22
Q

maple syrup urine disease is caused by a def in what enzyme

A

alpha ketoacid DH

23
Q

what coenzymes does alpha ketoacid DH require?

A

Tender loving care for nancy

Thiamine (B1)
Lipoate
Coenzyme A
Fad
NAD
24
Q

what treatment can improve sxs of a pt w/ maple syrup urine disease

A

high dose thiamine

25
Q

folate def inhibits formation of dTMP, limiting DNA synthesis, promoting megaloblastosis and erythroid precursor cell apoptosis.

what type of supplementation can REDUCE erythroid precursor cell apoptosis

A

thymidine

increases dTMP levels

26
Q

rate limiting enzyme in the urea cycle

A

carbamoyl phosphate

27
Q

what actiavtes carbamoyl phosphate

A

NAG

28
Q

where do nitrogen atoms in the urea molecule come form?

A

NH3

aspartate

29
Q

enz def in homocystinuria

A

cystathione synthase

30
Q

ectopia lentis (dislocated lens)
intellectual disability
marfanoid habitus
High risk for tromboembolic episodes

A

Homocystinuria

31
Q

tx for cystathione synthase def

A

50% of pts respond to high doses of B6 if issue is w/ decreased affinity of CS for B6

32
Q

how is splenic hypertrophy related to pyruvate kinase def

A

PK def causes hemolytic anemia d/t failed glycolysis (not enough ATP to maintain RBC)>
spleen must work harder to remove erythrocytes from circulation

33
Q

newborn w/ lethargy, vomiting, hypotonia

Metabolic acidosis + hypoglycemia

Increased concentration of propionic acid in urine

A

Proprionic acidimia caused by def in priopionyl CoA carboxylase

Priopionyl Coa is derived from AA (val, ile, met, Thr), odd numbered FA and cholesterol side chains

34
Q

Lynche syndrome

A

AD

abnormal nucleotide MMR

(MSH2, MLH1)

35
Q

location of PPP

A

cytoplasm

36
Q

b oxidation, ketogenesis, citric acid cycle, parts of urea cycle, pyruvate carboxylation

LCOATION?

A

mitochondria

37
Q

transketolase

A

enzyme of PPP that uses B1 as a cofactor

38
Q

pyruvate carboxylase

A

initial step in gluconeogenesis

converts pyruvate to OAA

39
Q

Ornithine transcarbamoylase

A

Ornithine and CP are combined to form citruline

40
Q

succinate dehydrogenase

A

enzyme of TCA converts succinate to fumarate

41
Q

HMG CoA lyase

A

mitochondrial enzyme responsible for ketogenesis from HMG CoA

42
Q

homeobox genes

A

DNA binding TF that play important role in morphogenesis

43
Q

hypoglycemia after prolonged fasting w/ LOW levels of ketone bodies

A

MCAD

acyl CoA DH

44
Q

Hepatomegaly, cardiomegaly, macroglossia, hypotonia and mental retardation

Polysaccharide accumulation in lysosomes

A

POMPE Disease

alpha glucosidase def leads to glycogen accumulation in lysosomal vesicles

responsible for breaking down small mats of glycogen

45
Q

severe neurologcial abnormalities d/t high blood and tissue ammonia levels + increased orotic acid excretion (d/t accumulated carbamoyl phosphate)

A

OTC def

46
Q

female w/ recurrent abdominal pain and anxiety that improves after IV heme preparation

A

increased gamma-ALA (causes sxs) and porphogiilinogen d/t over activation of ALA synthase ( usually inhibited by heme)

Step 1 (69 decks)

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