Biochemistry Flashcards

1
Q

blot detect target mRNA in a sample and can be used to assess the degree of gene transcription.

A

Northern blots

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2
Q

an assay commonly employed to measure the amount of a PROTEIN in body FLUIDS. It can be quantitative, for example, to measure plasma insulin levels.

A

ELISA (enzyme-linked immunosorbent assay)

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3
Q

blot detect target protein in a sample and can be used to assess the degree of gene translation.

A

Western blots

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4
Q

Phenylalanine hydroxylase deficiency causes

what disease, what does it require?

A

PKU, requires THB

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5
Q

Cystathionine synthase

what disease, what does it require

A

Homocystinuria

requires B6

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6
Q

Proprionyl-CoA carboxylase deficiency causes an inability to digest what? What does it require?

A

can’t digest VOMIT

requires B7

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7
Q

Methylmalonyl-CoA mutase deficiency causes, what disease, what does it require?

A

Methylmalonic acidemia

requires B12

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8
Q

Deficient/absent enzyme in Alkaptonuria

Urine/ cartilage turns black

A

Homogentisate oxidase

Tyr –> Fumurate

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9
Q

intermittent burning pain in the hands and feet and a lack of sweating while engaging in physical activity.

Name the inclusion body found

A

Ceramide trihexoside

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10
Q

Vomiting, irritable baby with increased muscle tone in all extremities.
His diapers emit a caramel-like odor. Urine studies
are positive for ketone bodies.
What 3 amino acids should be avoided in this baby?
Which one should be given to treat?

A

Mable Syrup Disease
Isoleucine, Leucine, Valine
(I LiV for Maple Syrup)
Treat with Thiamine

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11
Q

Caused by decreased

branched chain alpha ketoacid DHase (B1)

A

Maple Syrup Disease

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12
Q

Increases epinephrine through methyl donation

A

Methionine

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13
Q

Needed for phenylalanine & tyrosine Hydroxylase

also for NTs

A

Tetrahydrobiopterin (BH4)

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14
Q

Needed for nucleotide production (T, A, G)

A

Tetrahydrofolates

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15
Q

δ-Aminolevulinate is elevated in

A

lead poisoning

inhibited dehydratase

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16
Q

Elevated Porphobilinogen

A

Cause of acute intermittent porphyria

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17
Q

elevated Unconjugated bilirubin

A

Elevated in hemolysis or when liver can’t

metabolize bilirubin

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18
Q

Elevated Total, Indirect and Direct bilirubin

A

Alcoholism

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19
Q

Elevated Direct Bilirubin only

A

Bile Duct Obstruction

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20
Q

Elevated Indirect Bilirubin

A

Crigler-Najjar

Hemolysis

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21
Q

Elevated Orotic Acid
absent Citrulline
what enzyme is deficient

A

Ornithine transcarbamylase deficiency

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22
Q

decreased Carbamoyl phosphate synthetase I causes

A

decreased orotic acid

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23
Q

Elevated liver F1P

what enzyme is deficient

A

Aldolase B

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24
Q

where is Carbomyl phosphate synthetase I located

A

Mitochondria

part of urea cycle

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25
Q

where is Carbomyl phosphate synthetase II located

A

Cytoplasm

for Pyrimidine synthesis

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26
Q

orotic aciduria and acidemia unresponsive to cobalamin or folic acid treatment.
Which enzyme is deficient?

A

UMP Synthase

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27
Q

HGPRT deficiency

A
Lesch Nyan
Hyperuricemia
Gout
Pissed off (aggression, self-mutilation)
Retardation
DysTonia
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28
Q

How to treat Lesch Nyan

A

Allopurinol
or
Febuxostate

(Block Xanthine Oxidase) Because fucked up purine salvage

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29
Q

COL1A1 and COL1A2 defect

A

Osteogenesis imperfecta

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30
Q

multiple fractures
Hearing Loss
Tooth abnormalities
blue sclera

A

Osteogenesis imperfecta

Bones= multiple fractures
I (eye)= blue sclerae
Teeth= dental imperfections
Ear= hearing loss

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31
Q

What collagen is bad in OI

A

Type 1

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32
Q

COL5A1 and COL5A2 defect
Type 5 collagen
joint/ skin symptoms

A

Ehlers Danlos

*Defect in collagen

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33
Q

Vascular type
Fragile organs vasculature (Aorta) susceptible to aneurysms
Type III procollagen (COL3A1) defect

A

Ehler Danlos

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34
Q

impaired copper absorption and transport due to defective protein from ATP7A gene

A

Menkes

*ATP7B gene is Wilson’s !

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35
Q

Low activity of lysyl oxidase (copper is a necessary cofactor) thus defective collagen

A

Menkes

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36
Q

Menkes carries an increased risk of what?

A

Cerebral Aneurysms

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37
Q

FBN1 gene mutation on chromosome 15 (fifteen) results in defective fibrillin, a glycoprotein that forms a sheath around elastin

A

Marfan

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38
Q

Beta-oxidation of fatty acids, the TCA cycle, and the carboxylation of pyruvate (gluconeogenesis) all occur within the

A

mitochondria

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39
Q

The enzymes responsible for glycolysis, fatty acid synthesis, and the pentose phosphate pathway reside in the

A

Cytosol

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40
Q

Pyruvate carboxylase requires

A

B7 biotin

41
Q

3-Hydroxy-3-methylglutaryl-CoA (HMG CoA) lyase is a mitochondrial enzyme necessary for ____. It is also responsible for metabolism of the amino acid, _____.

A

ketogenesis

leucine (ketogenic)

42
Q

Transketolase is an enzyme of the pentose phosphate pathway that uses _____ as a cofactor

A

thiamine (vitamin B1)

43
Q

Medium-chain triglycerides are restricted in __________ deficiency.

a condition characterized by lethargy, seizures, and _______ hypoglycemia following a period of fasting.

A

medium-chain acyl-CoA dehydrogenase

hypoketotic

44
Q

Galactose and lactose are excluded from the diet in patients with classic galactosemia (absent ______).

Galactosemia presents in neonates with jaundice, vomiting, poor feeding, lethargy, hypoglycemia, and _______ accumulation.

A

galactose-1-phosphate uridyltransferase

galactose-1-phosphate

45
Q

Fructose and sucrose restriction is the treatment for ________ deficiency.

This condition causes vomiting and hypoglycemia in infants after fruit or juice is introduced.

A

fructose 1-phosphate aldolase

aldolase B

46
Q

The major amino acid responsible for transferring nitrogen to the liver for disposal. Requires Vitamin __

A

Alanine

B6 for transamination

47
Q

During protein catabolism Alanine carries ammonia to the liver and transfers it to _________ to form glutamate.

Glutamate then transfers the NH3 to the Urea pathway

A

α-ketoglutarate

48
Q

Ehlers-Danlos syndrome can be caused by ______ deficiency, which results in impaired cleavage of ______ in the extracellular space.

A

procollagen peptidase

terminal propeptides

49
Q

______ deficiency results in impaired tetrahydrobiopterin (BH4) levels, an important cofactor for both phenylalanine hydroxylase and tyrosine hydroxylase.

Although phenylalanine levels can be corrected with dietary restriction, downstream deficiencies of __________ lead to progressive neurologic deterioration and microcephaly (sometimes)

A

Dihydrobiopterin reductase

dopamine, norepinephrine, epinephrine, and serotonin

50
Q

____ is used to detect a target PROTEIN or polypeptide from within a mixed sample using gel electrophoresis.

A

Western blotting

*Potential target proteins are separated by gel electrophoresis. The separated proteins are then transferred to a nitrocellulose membrane and probed with a primary antibody specific for the protein of interest. The membrane is then washed and treated with a (secondary) marked antibody that binds to the primary antibody and can be detected (eg, by colorimetry).

51
Q

Western blotting is similar to the enzyme-linked immunosorbent assay (ELISA) technique; however, in ELISA the patient’s ____ is tested directly, whereas in Western blotting the proteins are first separated by electrophoresis.

A

serum

52
Q

_____ analyzes mRNA via gel electrophoresis

A

Northern blots

*A sample containing a large number of mRNA molecules is separated via gel electrophoresis. Separated bands are then transferred to a membrane and hybridized with a probe containing a nucleotide sequence complementary to the mRNA of interest.

53
Q

____ is used to analyze DNA sequences via
restriction endonucleases
gel electrophoresis
radiolabeled DNA probes

A

Southern blotting

*DNA that is fragmented using restriction endonucleases is separated by gel electrophoresis and transferred to a nitrocellulose membrane. A radiolabeled DNA probe containing a sequence complementary to an area of interest is then used for hybridization. Restriction site mutations can be detected because they alter DNA fragment lengths, thereby altering electrophoresis migration patterns.

54
Q

____ analysis is similar to Southern and Northern blotting but involves hybridization of a large number of probes at once

A

Microarray

55
Q

_____ is a technique that analyzes DNA-BINDING PROTEINS recognized by their ability to bind specific oligonucleotide probes.

A

Southwestern blotting

56
Q
H-yperuricemia
G-out
P-issed off (aggression, self-mutilation)
R-etarded (motor/mental)
Dys-T-onia
A

Lesch Nyan

57
Q

Brittle, kinky hair
growth retardation
hypotonia
cerebral aneurysm risk

A

Menkes

58
Q

Compare Menke’s (ATP7A) and Wilson’s (ATP7B)

A

Menkes = low copper absorption

Wilson’s = High copper absorption

59
Q

Menkes is inherited in what type of fashion

A

XLR

60
Q

Most common cause of death in Marfan?

A

Aortic Root Aneurysm, rupture, or dissection.

61
Q

Marfan can cause what type of murmur?

A

Mitral Valve Prolapse causing a

Systolic Crescendo w/a Mid Systolic Click

62
Q

Subluxation of lens:

  1. Up and out
  2. Down and in
A
  1. Marfan (most of the time)

2. Homocystinuria (most of the time)

63
Q

The hydroxylation of proline and lysine residues in collagen occurs in the ____ and requires vitamin C as a cofactor.

A

rough endoplasmic reticulum

64
Q

After formation of the triple helix, ____ molecules are secreted from the cell via the Golgi apparatus.

A

(pro-alpha-chain helix) procollagen

65
Q

Terminal Propeptides are cleaved by ____ (space) procollagen peptidase to form insoluble monomers which then self-assemble into collagen fibrils that are subsequently crosslinked via _____.

A

extracellular space

lysyl oxidase

66
Q

Collagen Pro alpha Chains are ____ in the RER

A

Hydroxylated (Lysine and Proline residues)

67
Q

Proteins destined for the ____ require phosphorylation of specific mannose residues to ensure proper transit through the Golgi apparatus.

A

lysosome

68
Q

A Golgi body phosphotransferase enzyme catalyzes the phosphorylation of _____ residues on lysosome-bound proteins, allowing them to traverse the Golgi network

A

mannose

69
Q

2-year-old, failure to thrive, developmental delay. recurrent ear infections
coarse facial features, corneal clouding,
hepatosplenomegaly, & restricted joint mobility.
Deficient phosphorylation of mannose residues (In golgi)

Diagnosis

A

I cell disease

70
Q
maximal velocity (Vmax) is unchanged
Km increased
A

Competitive inhibitors

71
Q

Km unchanged

Vmax decreased

A

allosteric non-competitive inhibitors

72
Q

_____ inhibition does not change the apparent Km and cannot be overcome with higher substrate concentrations.

A

Noncompetitive

73
Q

Irreversible inhibitors ___ the Vmax

A

Lower

74
Q

DNA nucleotide change in Base Pair # that is NOT divisible by 3 is a ____ mutation

A

frame shift

75
Q

1 g of protein yields __ Cal

A

4

76
Q

Fructose, similar to glucose and galactose, is a ___ sugar and can be detected by a copper reduction test, which nonspecifically detects their presence in urine

A

reducing

77
Q

a benign disorder
Asymptomatic
+ urine copper reduction test

A

Essential fructosuria (fructokinase deficiency)

78
Q

Northern blots detect target mRNA in a sample and can be used to assess the degree of gene ___.

A

transcription

*western= translation

79
Q

Reverse transcription polymerase chain reaction (RT-PCR) is used to detect and quantify levels of ___ in a sample.

A

mRNA

80
Q

It uses reverse transcription to create a complementary DNA template that is then amplified using the standard PCR procedure.

A

RT-PCR

81
Q

allows direct localization of genes to their respective chromosomes by using a labeled DNA probe complementary to the sequence of interest.

A

Fluorescence in situ hybridization (FISH)

82
Q

Beta-oxidation of fatty acids takes place primarily within the

A

mitochondrial matrix

83
Q

Malonyl-CoA inhibits ___, preventing the transfer of acyl groups into the mitochondria & Beta Oxidation of Fats

A

carnitine acyltransferase

84
Q

High citrate levels causes upregulation of Acetyl-CoA carboxylase. This cytosolic enzyme catalyzes the conversion of acetyl-CoA to _____ in the rate-limiting step of de novo fatty acid synthesis.

A

malonyl-CoA

85
Q

High citrate levels causes upregulation of Acetyl-CoA carboxylase. This cytosolic enzyme catalyzes the conversion of acetyl-CoA to malonyl-CoA in the rate-limiting step of de novo ____ synthesis.

A

fatty acid

86
Q

High citrate levels causes upregulation of _____ which catalyzes the conversion of Acetyl-CoA to Malonyl-CoA in the rate-limiting step of de novo fatty acid synthesis.

A

Acetyl-CoA carboxylase

87
Q

Acetoacetate is a

A

Ketone body

88
Q

an intermediate in the TCA cycle. It can be exported out of the mitochondrial matrix and into the cytosol, where it is broken down into acetyl-CoA for use in de novo fatty acid synthesis.

A

Citrate

89
Q

This patient developed hypoketotic hypoglycemia after fasting and seizures which is consistent with a deficiency in

A

medium chain acyl-CoA dehydrogenase

*impaired Beta Oxidation of FA for Ketone bodies

90
Q

is the primary hormone secreted ACUTELY in response to falling glucose levels

A

Glucagon

  • At the same time, Epinephrine further stimulates glycogenolysis and gluconeogenesis
91
Q

Prolonged fasting (after a few hours) increases the secretion of _____, a steroid hormone that binds to an intracellular receptor and acts to increase transcription of enzymes involved in gluconeogenesis, lipolysis, and proteolysis.

A

Cortisol

92
Q

DNA-binding proteins include transcription factors (Myc, CREB), steroid receptors (cortisol, aldosterone, progesterone), thyroid hormone receptor, fat-soluble vitamin receptors (vitamin D, retinoic acid), and DNA transcription and replication proteins.

A

just review

93
Q

Integral membrane proteins contain transmembrane domains composed of alpha helices with hydrophobic amino acid residues ( ___, ___, ___ isoleucine, phenylalanine, tryptophan, methionine, proline, glycine). These transmembrane domains help anchor the protein to the phospholipid bilayer of the cell membrane.

A

alanine, valine, leucine,

94
Q

Collagen in the ECM binds ____, which binds to Integrin on the plasma membrane

A

Fibronectin

95
Q

organelle remain floating in the cytosol throughout protein synthesis. They are responsible for translating proteins found within the cytosol, nucleosol, peroxisome matrix, and nuclear-encoded mitochondrial proteins

A

Free ribosomes

96
Q

Attached ribosomes bind to the RER after protein translation begins. They synthesize most ___ proteins, the integral membrane proteins of the nucleus and cell membrane, and proteins within the ER, Golgi network, and lysosomes.

A

secretory

97
Q

Ribosomes attach to the RER via the

A

translocon

98
Q

Intracellular receptors that bind steroids, thyroid hormone, and fat-soluble vitamins act directly as transcription factors and contain ___ binding domains which recognize specific DNA sequences

A

zinc-finger

99
Q

Calcium-sensing receptors are ___ receptors that regulate the secretion of parathyroid hormone

A

Gq protein–coupled