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Biochem 2 Flashcards

1
Q

ELISA stands for

A

Enzyme-linked immunosorbent assay

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2
Q

Indirect ELISA

A

A test antigen used to determine if an antibody is in the patient’s blood, second antibody used to detect the first antibody.

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3
Q

Direct ELISA

A

Test antibody used to detect antigen in patient’s blood, second antibody is used to detect the antigen

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4
Q

Positive ELISA result

A

Lights up brightly

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5
Q

Indirect ELISA test

A

anti-HIV antibody detection

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6
Q

Fluorescent in situ hybridization.

A

Using fluorescent DNA or RNA probe to bind specific gene site of interest on chromosomes.

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7
Q

Uses of FISH

A

Microdeletions that can’t be detected by karyotype

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8
Q

Steps of cloning

A

Isolate euk. mRNA, use reverse transcriptase to make cDNA, insert cDNA into bacterial plasmids with ABx resistance genes, transform recombinant plasmid into bacteria, grow on Abx medium to get the bacteria that produces the cDNA.

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9
Q

How to get DNA into a mouse

A
  1. Random insertion into mouse genome. 2. Trageted insertion or deletion of gene through homologous recombination with mouse gene.
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10
Q

What is homologous recombination

A

Uses a complementary dsDNA template (like the other chromosome) to fix dsDNA breaks. Can also be used for cloning………

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11
Q

Cre-lox system

A

Can induce genes at specific developmental points……………………………..

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12
Q

RNA interference (RNAi)

A

dsRNA complementary to target mRNA used to degrade target mRNA

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13
Q

What tissues can be karyotypes

A

blood, bone marrow, amniotic fluid, or placental tissue.

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14
Q

alpha1-antitrypsin deficiency is inherited in what way

A

Codominance………….

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15
Q

Neurofibromatosis type 1 inheritance

A

variable expressivity

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16
Q

Example of pleiotropy

A

PKU with light skin, retardation, and musty body odor

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17
Q

what diseases have anticipation

A

Huntington, fragile x, myotonic dystrophy

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18
Q

Do oncogenes need loss of heterogeneity

A

No, loss of heterogeneity only applies to tumor suppression genes

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19
Q

Explain dominant negative mutation

A

It’s a dominant mutation but it has the the negative, suppressive effect. Like a nonfunctional transcription factor preventing the functional wildtype protein from working.

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20
Q

Linkage disequilibrium for individuals or population

A

Measured in a population, not in a family

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21
Q

When is McCune-Albright a viable condition

A

Only if it is inherited mosaically

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22
Q

What is McCune-Albright syndrome

A

Genetic syndrome with 2 out of 3 of following: autonomous endocrine excess (e.g. precocious puberty), polyostotic fibrous dysplasia, unilateral cafe au lait spots.

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23
Q

What is locus heterogeneity

A

Mutations at different loci producing the same phenotype

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24
Q

What is allelic heterogeneity

A

Different mutations in the same locus produce the same phenotype

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25
Q

Heteroplasmy

A

Having normal and mutated mtDNA, causes variable expression in mitochondrial inherited disease.

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26
Q

How is homologous recombination used in cloning

A

…..

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27
Q

Uniparental disomy

A

Receiving 2 copies of a chromosome from one parent. and 0 from the other.

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28
Q

Hetero vs. isodisomy

A

Hetero occurs in meiosis I, iso in meiosis II. Iso can also happen post-zygotically with a chromosomal duplication and loss of the other chormosome.

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29
Q

When to consider UPD

A

When an individual has a recessive disorder but only one parent is carrying the trait.

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30
Q

How bad is UPD usually

A

Usually normal phenotype

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31
Q

Frequency of an X-linked recessive disease in males and females

A

males: q
females: q^2

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32
Q

Hardy-Weinberg equillibrium requires

A

No mutation occurring at the locus, natural selection is not occuring, completely random mating, no net migration

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33
Q

Prader-Willi and Angelman on what chromosome

A

15

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34
Q

Prader-Willi inheritance

A

Prader lacks Faddah. Maternal imprinting: maternal gene is silent and paternal gene is deleted/mutated

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35
Q

AngelMan inheritance

A

Misses Muddah. Dad gene is normally silent and maternal gene is deleted/mutated.

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36
Q

P-W presentation

A

Hyperphagia, obesity, intellectual disability, hypogonadism, and hypotonia

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37
Q

Angelman presentation

A

Inappropriate laughter (happy puppets, seizures, ataxia, and severe intellectual disability)

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38
Q

Specific genetics about P-W

A

25% of cases due to maternal UPD, remaining are mutuation or deletion

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39
Q

Specific genetics about Angelman

A

5% of cases due to paternal UPD, remaining are mutuation or deletion

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40
Q

Are P-W and Angelman genes on maternal and paternal side both normally silent????

A

No…one is usually active. So if you lack the father’s chromosome from deletion but the maternal side is not imprinted…will you not have the disease. Or is one or the other imprinted……………………

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41
Q

Which diseases tend to be worse, aut. rec or aut. dom.

A

Aut. rec., they tend to pop up in childhood, aut. dom. are often pleiotropic

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42
Q

Why aren’t x-linked recessive passed male to male

A

Because the father gives the son the Y chromosome

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43
Q

X-linked dom. inheritance

A

Mothers pass on to 50% of sons AND daughters, fathers transmit to all daughters but no sons

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44
Q

Example of x-linked dom. inheritance

A

Hypophosphatemic rickets

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45
Q

Hypophosphatemic rickets

A

vitamin-D resistant rickets. Increased phosphate wasting and proximal tubule.

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46
Q

Mitochondrial myopathies presentation

A

Myopathy, lactic acidosis, and CNS disease, secondary to failrue in ox phos

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47
Q

Muscle biopsy of mitochondrial myopathies

A

Ragged red fibers

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48
Q

Autosomal dominant polycystic kidney disease genetics

A

85% of cases due to mutation in PKD1 (chromosome 16); remainder due to mutation in PDK2 (chrom. 4)

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49
Q

Familial adenomatous polyposis genetics

A

APC gene, chrom. 5

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50
Q

Familial hypercholesterolemia

A

Defective/absent LDL receptor, can have tendon xanthomas (Achilles!!)

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51
Q

Hereditary hemorrhagic telangiectasis

A

Telangiectasia, recurrent epistaxis, skin discolorations, AVMs, GI bleeding, hematuria.

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52
Q

Hereditary spherocytosis genetics

A

spectrin or ankyrin defects

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53
Q

Hereditary spherocytosis CBC w/ diff results

A

Elevated MCHC

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54
Q

Huntington genetics

A

Chrom 4, trinucleotide repeat disorder (CAG)n.

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55
Q

Marfan’s genetics

A

fibrillin-1 gene mutation

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56
Q

Marfan syndrome presentation

A

Tall with long extremities, pectus excavatum, hypermobile joints, and long, tapering fingers and toes (arachnodactyly), cystic medial necrosis of aorta leading to aortic incompetance and dissecting aortic aneurysms, floppy mitral valave. Subluxation of lenses upward and temporally.

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57
Q

MEN2 gene

A

ret gene

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58
Q

NF1 (von Recklinghausen disease)

A

Neurocutaneous: cafe-au-lait spots, cutaneous neurofibromas, aut. dom., 100% penetrance, variable expression. CHROMOSOME 17

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59
Q

NF2

A

Bilateral acoustic schwannomas, juvenile cataracts, meningiomas, and ependymomas. CHROMOSOME 22

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60
Q

Tuberous sclerosis

A

neurocutaneous disorder with numerous benign hamartomas, incomplete penetrance, variable expression

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61
Q

von Hippel-Lindau disease

A

VHL gene (tumor suppressor) on chromosome 3 (3p).

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62
Q

Cystic fibrosis genetics

A

Aut. rec, CFTR gene on chrom. 7, most commonly a deletion of Phe508, most common lethal genetic disease in caucasians

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63
Q

Function of CFTR gene

A

ATP-gated Cl- channel that secretes cl- in lungs and GI tract and reabsorbs Cl- in sweat glands.

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64
Q

CF patho

A

mutations cause misfolded protein that is retained in RER and not transported to cell membrane leading to less Cl- (and H2O) secretion and more Na+ reabsorption to compensate for incrased ICF cl- leading to even less ECF water causing very thick mucus

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65
Q

CF membrane potential

A

Increased Na+ reabsorption causes mroe negative transepithelial potential difference….how….I thought the inside is negative because the na/k atpase pushes an extra cation out, wouldn’t this just ruin the membrane potential.

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66
Q

CF diagnosis

A

Cl- conc. >60 mEq/L in sweat is diagnostic, can cause a contraction and hypokalemia (ECF effects like taking a loop diuretic) Renal K+/H+ wasting

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67
Q

CF CXR

A

Reticulonodular pattern

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68
Q

CF genitals

A

Infertile men (no vas deferens, no sperm)

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69
Q

CF PNA

A

recurrent Pseudomonas

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70
Q

CF tx

A

N-acetylcysteine to loosen mucus plugs (cleaves disulfide bonds within mucus glycoproteins). Dornase alfa (DNAse) to clear leukocytic debris

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71
Q

X-linked recessive disorders

A

Be Wise, Fool’s GOLD Heeds Silly HOpe.
Bruton agammaglobulinemia, Wiskott-Aldrich syndrome, Fabry disease, G6PD deficiency, Ocular albinism, Lesch-Nyhan syndrome, Duchenne (and Becker) muscular dystrophy, Hunter Syndrome, Hemophilia A and B, Ornithine transcarbamoylase deficiency

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72
Q

CF transepithelial potential difference

A

More negative because more sodium is being reabsorbed. This is different from membrane potential because I think that actually goes up because of the sodium rushing in, unless the Cl- still makes it more negative.

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73
Q

Duchenne mutation

A

X-linked frameshift

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74
Q

Gower manuever

A

using upper extremities to help kids stand up

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75
Q

Duchenne age of onset

A

Before 5 yrs

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76
Q

MCC of death in Duchenne’s

A

dilated cardiomyopathy

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77
Q

Dystrophin purpose

A

connects intracellular cytoskeleton (actin) to the transmembrane proteins alpha and beta-dystroglycan, which are connected to the ECM. without in you get myonecrosis

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78
Q

Duchenne’s bloodwork

A

Increased CPK and aldolase scene

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79
Q

Duchenne’s dx

A

Western blot and muscle biopsy confirm diagnosis

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80
Q

Becker mutation

A

X-linked point mutation

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81
Q

Becker onset

A

Adolescene or early adulthood

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82
Q

Myotonic dystrophy type 1 genetics

A

CTG trinucleotide repeat expansion in the DMPK gene leading to abnormal expression of myotonin protein kinase

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83
Q

Myotonic type 1 presentation

A

Myotonia, muscle wasting, frontal balding, cataracts, testicular atrophy, and arrhythmia

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84
Q

Myotonia is

A

Delayed relaxation with prolonged contraction, muscle may be warmed up to limit the myotonia

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85
Q

Fragile X genetics

A

FMR1 gene on X chrom. affecting the methylation and expression of the FMR1 gene.

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86
Q

Fragile X epidemiology

A

2nd MCC of genetic intellectual disability (after Down’s)

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87
Q

Fragile X presentation

A

Post-pubertal macroorchidism (enlarged testes), long face with a large jaw, large everted ears, autism, mitral valve prolapse

88
Q

Fragile X genetic path

A

Trinucleotide repeat disorder (CGG)

89
Q

Fragile X mnemonic

A

eXtra large testes, jaw, and ears

90
Q

GAA

A

Friedreich ataxia

91
Q

CAG

A

Huntington

92
Q

CTG

A

Myotonic dystrophy

93
Q

CGG

A

Fragile X

94
Q

Mnemonic for Trinucleotide repeat disorders

A

X-Girlfriend’s First Aid Helped Ace My Test (the middle letter of each repeat)

95
Q

Down syndrome presentation

A

MR, flat facies, epicanthal folds, palmar crease, gap between 1st 2 toes, duodenal atresia, Hirschsprung’s, congenital heart disease (ostium primum-type ASD), Brushfield spots. Inc. risk of ALL, AML< and Alzheimer’s (>35 years old)

96
Q

Down’s genetics

A

1:700. 95% due to nondisjunction. 4% due to reobersonian translocation. 1% due to mosaiciism (post-fertilization mitotic error)

97
Q

Down syndrome First trimester diagnosis

A

US: Inc. nuchal translucency and hypoplastic nasal bone
Serum: PAPP-A is down, betahCG is up

98
Q

Down syndrome Second trimester diagnosis

A

Serum: low AFP, high beta-hCG, low estriol, inc. inhibin A

99
Q

Edwards syndrome presentation

A

Severe MR, rocker-bottom feet, micrognathia, low set Ears, clenched hands, prominent occiput, cong. heart disease, death within 1 yr

100
Q

Edwards syndrome genetics

A

(E)lection age (18)

1:8000, most common trisomy resulting in live birth after Down’s

101
Q

Edwards serum

A

PAPP-A and free betahCG down in first trimester.

Quad screen: low AFP, low betahCG, low estriol, low or normal inhibin A

102
Q

Patau syndrome presentation

A

severe MR, rocker bottom feet, microphthalmia, microcephaly, cleft liP/Palate, holoProsencephaly, Polydactyly, congenital heart disease, death within 1 yr

103
Q

Patau genetics

A

(P)uberty 13

104
Q

Patau serum

A

First-trimester: low betahCG, low PAPP-A and increased nuchal translucency

105
Q

Draw out a table of the three viable trisomies bloodwork in pregnancy

A

….

106
Q

Draw out nondisjunction

A

…..

107
Q

What are acrocentric chromosomes

A

have centromeres near the ends

108
Q

Robertsonian translocation

A

Acrocentric chromosomes fuse with loss of both short arms, can be balanced or unbalanced

109
Q

Which chromosomes can undergo robertsonian translocation

A

paris 13, 14, 15, 21 and 22

110
Q

What happens to the short arms in a robertsonian translocation

A

The reciprocal product is formed from the long armed chromosome but because they have useless genes they are usually lost quickly.

111
Q

Cri-du-chat syndrome genetics

A

Congenital microdeletion of short arm of chrom. 5 (46,XX or XY, 5p-)

112
Q

Cri-du-chat presentation

A

Microcephaly, moderate to severe MR, high-pitched crying/mewing, epicanthal folds, cardiac abnormalities (VSD)

113
Q

Williams syndrome genetics

A

Congenital microdeletion of long arm of chrom. 7 (deleted region includes elastin gene)

114
Q

Williams presentation

A

Elfin facies, MR, hypercalcemia (incr. sensitivity to vit. D), well developed verbal skills, extremely friendly, CV problems

115
Q

What are the 22q11 deletion syndromes

A

DiGeorge and Velocardiofacial syndromes

116
Q

CATCH-22

A

Cleft palate, abnormal facies, thymic aplasia, cardiac defects, hypocalcemia secondary to parathyroid aplasia, due to microdeletion at chromosome 22q11.

117
Q

22q11 deletion path

A

Aberrant development of 3rd and 4th branchial pouches

118
Q

DiGeorge syndrome presentation

A

thymic, parathyroid, and cardiac defects

119
Q

Velocardiofacial syndrome

A

palate, facial, and cardiac defects

120
Q

B1

A

thiamine (TPP)

121
Q

B2

A

riboflavin (FAD,FMN)

122
Q

B3

A

niacin: NAD+

123
Q

B5

A

pantothenic acid (CoA)

124
Q

B6

A

pyridoxine (PLP)

125
Q

B7

A

biotin

126
Q

B9

A

folate

127
Q

B12

A

cobalamin

128
Q

What B vitamins stored in liver

A

B12 and folate, the rest are peed out

129
Q

B-complex deficiencies typical presentation

A

Dermatitis, glossitis, and diarrhea

130
Q

Vitamin A is used as treatment for

A

Treats measles and AML, subtype M3. Retin-A for wrinkles and acne

131
Q

Vitamin A phys

A

Antioxidant, visual pigments (retinal), normal differentiatino of epithelial cells into specialized tissue (pancreatic cells, mucus cells), prevents squamous metaplasia

132
Q

Vit A Deficiency

A

Night blindness (nyctalopia); dry, scaly skin (xerosis cutis); alopecia; corneal degeneration (keratomalacia); immune suppression

133
Q

Vit A Excess

A

Arthralgias, skin changes (scaly), alopecia, pseudotumor cerebri, cerebral edema, osteoporosis, hepatic abnormalities, teratogenic (cleft palate, cardiac abnormalities), so a negative preg. test and relaiable contraception are needed before isotretinoin is prescribed for severe acne

134
Q

Thiamine function

A

Thiamine pyrophosphate (TPP): cofactor for several dehydrogenase enzyme reactions: pyruvate dehydrogenase, alpha-ketoglutarate dehydrogenase (TCA cycle), transketolase (HMP shunt), Branched chain ketoacid dehydrogenase

135
Q

Thiamine mnemonic

A

ATP: alpha-ketoglutarate dehyd., transketolase, pyruvate dehydroganase ….and throw in branched chain ketoacid dehydrogenase

136
Q

Thiamine deficiency presentation

A

Wernicke-Korsakoff: triad (confusion, ophthalmoplegia, ataxia); confabulation, personality change, memory loss (permanent).
Ber1Ber1: Dry: polneuritis, symmetrical muscle wasting. Wet: high output cardiac failure (dilated cardiomyopathy), edema.

137
Q

Wernicke-Korsakoff path

A

Damage to medial dorsal nucleus of the thalamus, mammillary bodies

138
Q

Thiamine deficiency path

A

Impaired glucose breakdown, ATP depeltion worsened with glucose infusion; highly aerobic tissues (brain, heart) affected first.

139
Q

Thiamine def. cause

A

Malnutrition and alcoholism

140
Q

Thiamine def. diagnosis

A

Increased RBC transketolase activity following thiamine administration

141
Q

Thiamine is what B vitamin

A

B1

142
Q

Riboflavin function

A

Part of FAD and FMN, used as cofactors in redox reactions, e.g. succinate dehydrogenase reaction in the TCA cycle

143
Q

Riboflavin deficiency

A

Cheilosis and Corneal vascularization (2 C’s of B2)

144
Q

Niacin function

A

NAD+, NADP+.

145
Q

Niacin tx

A

dyslipidemia, lowers VLDL and raises HDL

146
Q

Niacin synthesis

A

Need tryptophan, synthesis requires B2 and B6

147
Q

Niacin deficiency

A

Glossitis. Severe is pellagra (caused by Hartnup disease and malignant carcinoid syndrome), and isoniazid.

148
Q

Pellagra presentation

A

3 D’s of B3: diarrhea, dementia, dermatitis

149
Q

Dermatitis in pellagra

A

Casal necklace or hyperpigmentation of sun-exposed limbs

150
Q

Tryptophan metabolism in Hartnup, carcinoid, and isoniazid

A

Hartnup: dec. trypt absorption
Carcinoid: Inc. trypt metabolism
Isoniazid: decreased B6

151
Q

Niacin excess

A

Facial flushing (prostaglandin, not histamine), hyperglycemia, hyperuricemia

152
Q

Pantothenate function

A

Coenzyme A and fatty acid synthase

153
Q

B5 is

A

“pento”thenate

154
Q

Pantothenate deficiency

A

Dermatitis, enteritis, alopecia, adrenal insufficiency

155
Q

Pyridoxine function

A

Converted to pyridoxal phosphate, used in transamination (ALT and AST), decarboxylation reactions, glycogen phosphorylase. Synthesis of cystathionine, heme, niacin, histamine, serotonin, epinephrine, norepinephrine, dopamine, and GABA

156
Q

Pyridoxin deficiency

A

Convulsions, hyperirritability, peripheral neuropathy (isoniazid and oral contraceptives), sideroblastic anemias due to impaired hemoglobin synthesis and iron excess

157
Q

Biotin Function

A

Cofactor for carboxylation enzymes (which add 1-carbon group)

158
Q

Biotin mnemonic

A

Avidin in egg whites avidly binds biotin

159
Q

Biotin reactions

A

Pyruvate carboxylase
AcetylCoA carboxylase
Propionyl-CoA carboxylase

160
Q

Biotin deficiency

A

Rare. Dermatitis, alopecia, enteritis. Caused by abx or excessive ingestion of raw egg whties

161
Q

folate function

A

Turned into tetrahydrofolate for 1-carbon transfer/methylation reactions. Synthesizing nitogenous bases in DNA and RNA

162
Q

Folate sources

A

Leafy green vegetables, absorbed in jejunum. Folate from Foliage.

163
Q

Folate deficiency

A

macrocytic, megaloblastic anemia; hypersegmented PMNs, glossitis, no neurologic symptoms

164
Q

folate def. labs

A

increased homocysteine, normal methylmalonic acid

165
Q

folate def. in US

A

most common vit. deficiency, seen in alcoholics and pregnancy

166
Q

folate def. causes

A

Phenytoin, sulfonamides, methotrexate

167
Q

Cobalamin function

A

cofactor in homocysteine methyltransferase (transfers methyl groups as methylcobalamin) and methlmalonyl-CoA mtuase

168
Q

Cobalamin deficiency

A

macrocytic, megaloblastic anemia; hypersegmented PMNs, paresthesias, subacute combined degeneration due to abnormal myelin

169
Q

What is subacute combined denegeration

A

degeneration of dorsal columns, lateral corticospinal tracts, and spinocerebellar tracts.

170
Q

Cobalamin blood work

A

elevated serum homocysteine and methylmalonic acid levels

171
Q

Permanent effect of prolonged B12 deficiency

A

irreversible nerve damage

172
Q

Cause of B12 deficiency

A

Only made by microorganisms, only from animal products. Veganism, malabsorption (Diphyllobothrium latum), lack of intrinsic factor (pernicious anemia, gastric bypass surgery), or absence of terminal ileum (Crohn’s).

173
Q

Diagnosis of pernicious anemia

A

Anti-intrinsic factor antibodies

174
Q

Draw out reactions for B12 and B6

A

….

175
Q

What are the B12 reactions

A

Homocysteine to Methionine via Homocysteine methyltransferase AND methylmanolyl-CoA to succinyl-CoA via methylmalonyl-CoA mtuase

176
Q

What are the B6 reactions

A

Homocysteine to cysteine and Succinyl-CoA to Heme….but not all of them??

177
Q

Folates (B9) reactions

A

Used in reaction from homocysteine to methionine but not in forming succinyl-CoA (which is used for myelin synthesis)

178
Q

Vit C functions

A

helps iron absorption by reducing to Fe2+ state
Hydroxylating proline and lysine in collagen
Needed for dopamine Beta-hydroxylase to convert DA to NE

179
Q

Treatment for methemoglobinemia

A

Vit C is ancillary tx by reducing Fe3+ to Fe2+

180
Q

Scurvy presentation

A

swollen gums, bruising, hemarthrosis, anemia, poor wound healing, perifollicular and subperiosteal hemorrhages, corkscrew hair, weakened immune systhem

181
Q

Vit. C excess

A

N/V/D, fatigue, calcium oxalate kidney stones. Increased risk of iron toxicity for people who receive transfusions, hereditary hemochromatosis

182
Q

D2

A

ergocalciferol: from plants

183
Q

D3

A

cholecalciferol: milk, sun-exposed skin (stratum basale)

184
Q

Vit D storage form

A

25-OHD3

185
Q

Vit D active form

A

1,25-(OH)2D3 (calcitriol)

186
Q

Vit D function

A

Inc. intestinal absorption of calcium and phosphate, inc. bone mineralization

187
Q

Vit D def.

A

Rickets in kids, osteomalacia in adults, hypocalcemic tetany

188
Q

Breastmilk and Vit D

A

Low in Vit D, breastfed babies need oral vitamin D

189
Q

Vit D Excess

A

HyperCa, hypercalciuria, loss of appetite, stupor

190
Q

Causes of Vit D excess

A

Sarcoid (inc. activation of vitamin D by epitheliod macrophages)

191
Q

Vit E is also called

A

tocopherol and tocotrienol

192
Q

Vit E function

A

Antioxidant (protects RBCs and membranes from free radical damage)

193
Q

Vit E and blood thinners

A

Can enhance anticoagulation due to warfarin

194
Q

Vit E Def.

A

hemolytic anemia, acanthocytosis, muscle weakness, posterior column and spinocerebellar tract demyelination

195
Q

Vit E def. simply explained

A

Like B12, with no anemia, PMN changes, or increased serum methylmalonic acid levels

196
Q

Vit K function

A

Cofactor for gamma-carboxylation of glutamate residues on proteins for blood clotting (II, VII, IX, X) and proteins C and S

197
Q

Vit K def. presentation

A

Inc. PT and aPTT with normal bleeding time

198
Q

Vit K def. causes

A

Neonates (no bacteria in gut), prolonged use of broad-spectrum antibiotics

199
Q

Vit K and breast milk

A

Not in breast milk, neonates need an injection at birth

200
Q

Zinc function

A 
Essential for the activity of 100% enzymes. 
Zinc fingers (transcription factor motifs)
201
Q

Zinc def.

A

Delayed wound healing, hypogonadism, less adult hair, dysgeusia, anosmia, acrodermatitis enteropathica, may predispose to alcoholic cirrhosis

202
Q

What reactions happen in the mitochondria

A

Beta-oxidation, acetyl-CoA production, TCA cycle, Ox phos

203
Q

What reactions happen in the cytoplasm

A

Glycolysis, fatty acid synthesis, HMP shunt, protein synthesis (RER), steroid synthesis (SER), cholesterol synthesis

204
Q

What happens in both mitochondria and cytosol

A

Heme synthesis, Urea cycle, Gluconeogenesis (HUGs take two)

205
Q

What is a phosphorylase

A

Adds phosphate without ATP (e.g. glycogen phosphorylase)

206
Q

What is a carboxylase

A

Transfers CO2 groups with the help of biotin (e.g. pyruvate carboxylase)

207
Q

Mutase does

A

relocates a functional group within a molecule

208
Q

Know what type of enzyme specific ones are??

A

????

209
Q

What cofactor is needed for ethanol metabolism

A

NAD+ (turned into NADH)

210
Q

limiting reagent in ethanol metabolism

A

NAD+

211
Q

Kinetics of alcohol metabolism

A

zero-order kinetics

212
Q

NADH/NAD+ ratio in alcohol metabolism

A

Increases in liver

213
Q

What is the effect of the NADH/NAD+ ratio on pyruvate, oxaloacetate, and glyceraldehyde-3-phosphate

A

Lactate, malate and glycerol-3-phosphate

214
Q

Fomepizole

A

Inhibits alcohol dehydrogenase (used to treat methanol or ethylene glycol poisoning)

215
Q

Disulfiram

A

Inhibits acetaldehyde dehydrogenase (acetaldehyde accumulates, contributing to hangover sxs)

216
Q

Elevated NADH/NAD+ prevents TCA production of NADH causing increased utilization of acetyl-CoA for ketogenesis (ketoacidosis) and lipogenesis (hepatosteatosis)

A

….

217
Q

Kwashiorkor….

A

…..

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