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Step 1 > Biochemistry > Flashcards

Biochemistry Flashcards

1
Q

De Novo pyrimidine and purine synthesis

A

67FA

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2
Q

Lesh-Nyhan Syndrome

A

HGPRT enzyme (Hyperuricemia, Gout, Pissed off, Retardation, Dystonia). Rx - Allopurinol or febuxostat

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3
Q

Purine salvage

A
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4
Q

Adenosine deaminase deficiency

A

Excess ATP and dATP imbalances nucleotide pool via feedback inhibition of ribonucleotide redcutase which prevents DNA synthesis and thus decreases lymphocyte count. (SCIDs)

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5
Q

Single stranded binding proteins

A

prevents strands from reannealing

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6
Q

DNA polymerase III

A

Prokaryotic only - Elongates leading strand by adding deoxynucleotides to the 3’ end. Elongates lagging strand until it reaches primer of preceeding fragment. 3’->5’ exonuclease activty. 5’->3’ synthesis

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7
Q

DNA polymerase I

A

Prokaryotic only. Degrades RNA primer; replaces it with DNA. 5’->3’ exonuclease activity

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8
Q

mRNA stop codons

A

UGA, UAA, UAG

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9
Q

Drugs that act on microtubles

A

“Microtubles Get Constructed Very Poorly”

Mebendazole (anti-helminth), Griseofulvin (anti-fungal), Colchicine (anti-gout), Vincristine/Vinblastine (anti-cancer), Paclitaxel (anti-cancer)

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10
Q

Collagen types

A

I (bone, skin, tendon) - Osteogenesis imperfecta

II (cartilage, vitreous body, nucleus pulposus)

III (Reticulum - skin, blood vessels, uterus, fetal tissue) Vascular Ehlers Danlos

IV (Basement membrane) Alport syndrome, Goodpasture syndrome

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11
Q

Osteogenesis imperfecta

A

Collagen glycosylation problem

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12
Q

Ehlers-Danlos

A

Collagen cross-linking problem

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13
Q

Menkes disease

A

Copper (lysyl oxidase). Brittle “kinky” hair, growth retardation, and hypotonia

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14
Q

Elastin

A

Marfan (fibrillin), Empyhesema (alpha1 antitrypsin)

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15
Q

Blotting procedures

A

SNoW DroP

Southern - DNA; Northern - RNA; Western - Protein

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16
Q

Indirect ELISA

A

uses a test antigen to see if a specific antibody is present in the patient’s blood

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17
Q

Direct ELISA

A

Uses a test antibody to see if a specific antigen is present in the patient’s blood; a secondary antibody coupled to a color-generating enzyme is added to detect the antigen

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18
Q

Prader-Willi syndrom

A

Maternal imprinitng. Hyperphagia, obesity, intellecutal disability, hypogonadism, and hypotonia.

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19
Q

Angelman syndrom

A

Paternal imprinting. Results in inappropriate laughter, seizures, ataxia, and severe intellectual disability.

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20
Q

Myeloperoxidase

A

Blue-green based pigmented molecule contained within the azurophilic granules of neutrophiles that catalyzes the production of hypochlorus acid (HOCl) from chloride and hydrogen peroxide during the phagocytic respiratory burst. Neutrophil myeloperoxidase is responsible for the green color of pus and sputum in bacterial infections.

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21
Q

MAP kinase

A

Growth factor receptors (EGF, PDGF, FGF)

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22
Q

JAK/STAT

A

Receptors for cytokines, growth hormone, prolactin, IL-2

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23
Q

Autosomal Dominant diseases

A

ADPKD, FAP, Familial hypercholesterolemia, hereditary hemorrhagic telangiectasia (Osler-Weber-Rendu syndrome), hereditary spherocytosis, Huntington disease, Marfan syndrome, Multiple endocrine neoplasias, NF1, NF2, Tuberous Sclerosis, von Hippel-Linadau disease (chromosome 3)

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24
Q

Autosomal Recessive

A

Albinism, ARPKD, cystic fibrosis, glycogen storage diseases, hemochromatosis, Kartagener syndrome, mucopolysaccharidoses (except hunter syndrome), PKU, sickle cell anemia, sphingolipidoses (except Fabry disease), thalassemias, Wilson disease

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25
Q

CFTR gene

A

chromosome 7

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26
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, Haemophilus A&B, Ornithine transcarbamylase deficiency

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27
Q

Tuberous sclerosis

A

Neurocutaneous disorder with multi-organ system involvement, characterized by numerous benign hamartomas. Incomplete penetrance, variable expression.

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28
Q

Trinucleotide repeat expansion diseases

A

Huntington disease (CAG); Fragile X syndrome (CGG); Freidereich ataxia (GAA), Myotonic dystrophy (CTG)

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29
Q

Trisomy screening results

A

See notes

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30
Q

Robertsonian translocation

A

13,14,15,21, and 22

Asymptomatic or Down Syndrome/Patau

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31
Q

22q11 deletion syndromes

A

“CATCH-22”

Cleft palate, Abnormal facies, Thymic aplasia ->T-cell defiency, Cardiac dfects, Hypocalcemia secondary to parathryoid aplasia, due to microdeletion at chromosome 22q11

DiGeorge syndrome - tymic, parathryoid, and cardiac defects

Velocardiofacial syndrome - palate, facial, and cardiac defects

32
Q

Water soluble vitamins

A

B1 - Tiamine ; TPP

B2 - riboflavin; FAD, FMN

B3 - niacin ; NAD+

B5 - pantothenic acid ; CoA

B6 - pyridoxine ; PLP

B7 - biotine

B9 - folate

B12 - cobalamin

C - Ascorbic acid

33
Q

Alcohol breakdown

A

Fomepizole inhibits alcohol dehydrogenase (cytosol)

Disulfiram inhibits acetaldehyde dehyrdrogenase (mito)

34
Q

Rate determining enzymes of metabolic processes

A

FA 99

35
Q

Essential Amino Acids

A

Glucogenic (methioniine, valine, histidine)

Glucogenic/ketogenic (isoleucine, phenylalanine, threonine, tryptophan)

Ketogenic (leucine, lysine)

36
Q

Phenylalaine derivatives

A

Phenylalanin -> Tyrosine ->Dopa->Dopamine->NE->Epi

BH4, BH4, B6, Vit C, SAM

Also - Tyrosine -> Thyroxine; Dopa -> Melanin

37
Q

Tryptophan derivatives

A

Tryptophan ->Niacin-> NADP/NAD

B6

Tryp->Serotonin->Melatonin

(BH4, B6)

38
Q

Histadine derivatives

A

Histidine ->Histamine

B6

39
Q

Glycine derivatives

A

Glycine->Porphyrin->Heme

B6

40
Q

Glutamate derivatives

A

Glutamate ->GABA (B6)

Glutamate ->Glutathion

41
Q

Arginine derivatives

A

Creatinine, Urea, NO

(BH4)

42
Q

Essential fructosuria

A

Involves a defect in fructokinase. Autosomal recessive. A benign, asymptomatic condition, since fructose is not trapped in cells. Symptoms: frcutose appears in blood and urine. Disorders of fructose metabolism cause milder symptoms than analogous disorders of galactose metabolism.

43
Q

Fructose intolerance

A

Hereditary deficiency of aldolase B. Autosomal recessive. Fructose-1-P accumulates, causing a decrease in available phosphate, which results in inhibition of glycogenolysis and gluconeogenesis. Symptoms present following consumption of fruit, juice, or honey. Urine dipstick will be negative (tests for glucose only); reducing sugar can be detected in the urine (nonspecific teswt for inborn errors of carbohydrate metabolism). Symptoms: hypoglycemia, jaundice, cirrhosis, vomiting. Treatment: decrease intake of both fructose and sucrose (glucose + fructose).

FA 106

44
Q

Galactokinase deficiency

A

Hereditary deficiency of glactokinase. Galacititol accumulates if galactose is present in diet. Relatively mild condition. Autosomal recessive. Symptoms: galactose appears in blood and urine, infantile cataracts. May initially present as failure to track objects or to develop a social smile.

45
Q

Classic galactosemia

A

Absence of galactose-1-phosphate uridyltransferase. Autosomal recessive. Damage is caused by accumulation of toxic substances (including galactitol, which accumulates in the lens of the eye). Symptoms: failure to thrive, jaundice, hepatomegaly, infantile cataracts, intellectual disability. Treatment: exclude galactose and lactose (galactose + glucose) from diet. Can lead to PO4 depletion and E. coli sepsis in neonates.

46
Q

Galactose metabolism

A
47
Q

Sorbitol pathway

A

FA 107

48
Q

Urea cycle

A

FA 108

49
Q

Ammonia intoxication

A

tremor (asterixis), slurring of speech, somnolence, vomiting, cerebral edema, blurring of vision

50
Q

Catecholamine synthesis

A
51
Q

PKU

A

due to decrease phenylalanine hydroxylase or decrease tetrahydrobiopterin cofactor (malignant PKU). Tyrosine becomes essential. increase phenylalanine leads to excess phenylketones in urine. Findings: intellectual disability, growth retardation, seizures, fair skin, eczema, musty body odor. Treatment: decrease pheynylaline and increase tyrosine in diet.

52
Q

Maternal PKU

A

lack of proper dietary therapy during pregnancy. Finding in infant: microcephaly, intellectual disability, growth retardation, congenital heart defects

53
Q

Alkaptonuria (ochronosis)

A

Congenital deficiency of homogentisate oxidase in the degradative pathway of tyrosine to fumarate. Autosomal recessive. Benign disease. Findings: dark connective tissue, brown pigmented sclerae, urine turns black on prolonged exposure to air. May have debilitating arthralgias (homogentisic acid toxic to cartilage)

54
Q

Homocystinuria

A

Types (all autosomal recessive): Cystathionine synthase deficiency (treatment: decrease methionine, inc cysteine, inc B12, and folate in diet); dec affinity of cystationine synthase for pyridoxal phosphate (treatment: inc inc B6 and inc cysteine in diet); Homocysteine methyltransferase (methionine synthase) deficiency (treatment: inc methionine in diet)

All forms result in excess homocysteine. Findings: increase homocysteine in urine, intellectual disability, osteoporosis, tall stature, kyphosis, lens subluxation (downward and inward), thrombosis, and atherosclerosis (stroke and MI).

FA 111

55
Q

Cystinuria

A

Hereditary defect of renal PCT and intestinal amino acid transporter for Cysteine, Ornithine, Lysine, and Arginine (COLA). Excess cystine in the urine can lead to precipiation of hexagonal cystine stones. Autosomal recessive (common). Urinary cyanide-nitroprusside test is diagnostic. Treatment: urinary alkalinization (e.g., potassium citrate, acetazolamide) and chelating agents inc solubility of cystine stones; good hydration. Cystine is made of 2 cysteins connected by a disulfide bond.

56
Q

Maple syrup urine disease

A

Blocked degradation of branched amino acids (isoleucine, Leucine, Valine) due to dec alpha-ketoacid dehydrogenase. Causes inc alpha-ketoacids in the blood, especially those of leucine. Causes severe CNS dfects, intellectual disability, and death. Autosomal recessive. Urine smells like maple syrup/burnt sugar. Treatment: restriction of leucine, isoleucine, and valine in diet, and tiamine supplementation.

57
Q

Glycogen storage diseases

A

FA 113

58
Q

Lysosomal storage diseases

A

FA 114

59
Q

Carnitine deficiency

A

inability to transport LCFAs into the mitochondria, resulting in toxic accumulation. Causes weakness, hypotonia, and hypoketotic hypoglycemia.

60
Q

Nuclear localization signals

A

4-8 AA (lysine, arginine and proline

61
Q

G1->S

A

Cyclin E/CDK2

Cyclin D/CDK4

62
Q

G2->M

A

Cyclin A/CDK2 complex (mitotic prophase)

Cyclin B/CDK1 complex activated by cdc 25

63
Q

Cell membrane phospholipids

A

draw diagram of cox pathway

64
Q

IL-1

A

Macrophages. increase neutrophil and macrophage migration, inc acute phase reactants, fever and shock

65
Q

IL-2

A

T-cells. inc T-cell activation and proliferation, inc NK cell and macrophage activity, inc B-cell growth

66
Q

IL-3

A

T-cells. inc hematopoiesis

67
Q

IL-4

A

TH2 cells. inc TH2 cell differentiation, inc B cell growth, inc isotype switching to IgA

68
Q

IL-5

A

TH2 cells. Inc differentiation of eosinophils, inc isotype switching to IgA?

69
Q

IL-6

A

Macrophages. Inc T and B cell growth, inc osteoclast activity, inc acute phase reactants and fever

70
Q

IL-8

A

Macrophages, T-cells. Inc neutrophil activation and chemotaxis

71
Q

IL-10

A

TH2 cells. dec TH1 cell differentation, dec cell mediated immunity and APC activity, inc B cell function

72
Q

IFNg

A

TH1 cells, NK cells. Inc intracellular killing by macrophages, inc MHC class I and II expression, inc TH1 cell differentation

73
Q

TGFb

A

Mast cell types. Dec immune cell function, inc matrix synthesis and angiogenesis

74
Q

GM-CSF

A

T-cells, Macrophages. Inc growth and differentiation of myeloid progenitors

75
Q

TNFa

A

Macrophages. Inc inflammation and cell-mediated immunity, inc acute phase reactants, fever and schock.

76
Q
A

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