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Flashcards in Biochem - molecular, genes, lipids Deck (193):
1

excess ATP, dATP, decreased lymphocyte count

ADA (adenosine deaminase deficiency), AR mutation

2

SCID

ADA (adenosine deaminase deficiency), AR mutation

3

3 mo boy with delayed motor development, develops dystonia. 2 years later exhibits compulsive nail biting and banging head against wall. Develops renal failure and arthritis.

Lesch-Nyhan Syndrome - mutation in HGPRT

4

excess uric acid + adenine + guanines

Lesch-Nyhan Syndrome - mutation in HGPRT (converts hypoxanthine to IMP and guanine to GMP

5

HGPRT stands for:

HGPRT:
Hyperuricemia
Gout
Pissed off (aggression, self-mutilation) Retardation (intellectual disability)
DysTonia

6

trmt for excess uric acid + adenine + guanines?

allopurinol or febuxostat (2nd line)

7

degenerate codon definition

most a.a. are encoded by multiple codons

8

unambiguous codon definition

each codon specifies 1 a.a.

9

commaless codon definition

read from a fixed starting point as a continuous sequence of bases

10

universal codon definition (exception to this?)

genetic code is conserved throughout evolution
exception in humans: mitochondria

11

difference btwn DNA pol I and III

Pol III - 5'->3' synthesis, proofreads with 3'->5' exonuclease, LEADING + LAGGING strand

Pol I - same fxn as pol III, but can also excise RNA primer with 5'->3' exonuclease, LAGGING strand only

12

Rx that inhibits DNA topoisomerase in prokaryotes

fluoroquinolones

13

leading strand orientation?
lagging strand orientation?

leading: 3' --> 5'
lagging: 5' --> 3'

14

difference between transition and transversion

Transition - change within the same class

Transversion - change to a different class

15

Nonsense mutation

Nucleotide substitution resulting in early stop codon.

16

Missense mutation

Nucleotide substitution resulting in changed amino acid (conservative if new amino acid is similar in chemical structure).

17

disease with defective nucleotide excision repair

xeroderma pigmentosum, AR

18

disease with defective mismatch repair

HNPCC

19

disease with defective non-homologous end joining

ataxia telangiectasia

20

how is DNA and RNA template read and synthesized during transcription/translation?

DNA: 3 --> 5 (synthesized 5'-->3')

mRNA: 5 --> 3 (synthesized N--C terminus)

21

mRNA stop codons?

UGA = U Go Away.
UAA = U Are Away.
UAG = U Are Gone.

22

where is the TATA box located?

promoter region

23

3 types of eukaryotic RNA polymerase

I - rRNA (most numerous; "Rampant")
II - mRNA (largest, "Massive")
III - tRNA (smallest, "Tiny")

24

types of prokaryotic RNA polymerase

1 RNA polymerase, but makes all 3 (rRNA, mRNA, tRNA)

25

polyadenylation signal

AAUAA

26

P bodies

distinct foci in cytoplasm of eukaryotic cell - contains enzymes involved in mRNA turnover:

- decap and degrade unwanted mRNAs
- store mRNA until needed
- repress translation via miRNAs (related to siRNAs)

27

hnRNA

precursor to mRNA. undergoes processing in the nucleus:
- 5' cap
- 3' polyadenylation
- splicing out introns

28

snRNPs are found in? associated disease?

found in spliceosome (in nucleus, where pre-mRNA is cleaved form mRNA)

associated dz: SLE - contains anti-Smith antibodies against spliceosomal snRNPs

29

snRNPs are found in? associated disease?

found in spliceosome (in nucleus, where pre-mRNA is cleaved form mRNA)

associated dz: MCTD - contains anti-U1 RNP antibodies against spliceosomal snRNPs

30

what accounts for the degeneracy of genetic code?

tRNA wobble - accurate base pairing is required only in the first 2 nucleotide positions of an mRNA codon. Codons differing in the 3rd “wobble” position may code for the same tRNA/amino acid

31

What initiates mRNA translation?

GTP hydrolysis

32

Eukaryotic ribosomes

40S + 60S --> 80S (Even)

33

prokaryotic ribosomes

30S + 50S --> 70S (Odd)

34

what normally inhibits G1-to-S progression?

p53 and hypophosphorylated Rb

35

Neurons, skeletal and cardiac muscle, RBCs are considered to be what type of cells relative to the cell cycle?

permanent - remain in G0, regenerate from stem cells

36

Hepatocytes, lymphocytes are considered to be what type of cells relative to the cell cycle?

Stable (quiescent) - enter G1 from G0 when stimulated.

37

Bone marrow, gut epithelium, skin, hair follicles, germ cells are considered to be what type of cells relative to the cell cycle?

labile - never go to G0, divide rapidly with a short G1. Most affected by chemotherapy.

38

Nissl bodies?

found in RER in neurons- makes NTs for secretion

39

RER makes...
most abundant in...

secreted proteins
abundant in goblet cells of small intestines, plasma cells

40

SER makes...
most abundant in...

steroids and detoxes drugs and poisons
abundant in hepatocytes, adrenal cortex, gonads

41

residue added to proteins for trafficking to lysosomes

implicated in what disease

mannose-6-phosphate

I-cell disease (inclusion cell disease) - failure of the Golgi to phosphorylate mannose residues

42

patient with elevated serum proteases, glycosylases, lipases, hydrolases

I-cell disease (inclusion cell disease) - failure of the Golgi to phosphorylate mannose residues

43

I-cell disease (inclusion cell disease) features

coarse facial features
clouded corneas
restricted joint movement (claw shaped hands)
high plasma levels of lysosomal enzymes
Often fatal in childhood

44

Signal recognition particle (SRP)

cytosolic ribonucleoprotein that traffics proteins from the ribosome --> RER.

Absent or dysfunctional SRP --> proteins accumulate in the cytosol.

45

COPI

RETROgrade trafficking
Golgi --> Golgi; Golgi --> ER.

46


COPII

ANTEgrade trafficking

Golgi --> Golgi; ER --> Golgi.

47

misfolded proteins in the RER are destined for..?

polyubiquinated and targeted by proteasomes

48

centriole configuration + function

centrioles (9x3)

two pairs form one centrisome

49

basal body configuration + function

9x3 (+2) nucleation site for growth of axoneme microtubules

50

centrisome configuration + function

2 centrioles (9x3)
serves as anchoring sites for proteins that anchor microtubules

51

cilia structure

9 + 2 (forms motile cilia; many projections)

9 + 0 (forms motile cilia; forms one projection from cell)

52

where is 9 + 0 microtubule configuration usually found?

non-motile (1˚ cilia) - serve as a sensory receptor on primitive node cells to establish R/L axis of body

53

situs inversus

congenital condition in which the major visceral organs are reversed or mirrored from their normal positions - dextrocardia on CXR

due to primary ciliary dyskinesia

54

situs inversus, chronic sinusitis, and bronchiectasis

Kartagener syndrome - immotile cilia prevents removal of mucus/pathogens from sinuses and respiratory tract

often have ectopic pregnancies or immobile sperm as well

55

Kartagener syndrome etiology

1° ciliary dyskinesia - immotile cilia due to a dynein arm defect

56

Drugs that affect microtubules

Microtubules Get Constructed Very Poorly):
- Mebendazole (anti-helminthic)
- Griseofulvin (anti-fungal)
- Colchicine (anti-gout)
- Vincristine/Vinblastine (anti-cancer)
- Paclitaxel (anti-cancer)

57

Ouabain MoA

binding to K+ site on Na/K ATPase

58

Cardiac glycosides

digoxin and digitoxin

59

digoxin and digitoxin MoA

directly inhibit the Na/K ATPase; leads to indirect inhibition of Na+/ Ca2+ exchange --> increase [Ca2+]i --> increase cardiac contractility.

60

Collagen Type I

associated dz?

Bone, Skin, Tendon, Dentin, Fascia, CORNEA, SCAR TISSUE

Osteogenica Imperfecta

61

Collagen Type II

cartilage, vitreous body, nucleus pulposus

62

Collagen Type III

Reticulin - BV, Skin, Uterus, Fetal tissue, GRANULATION tissue

63

Collagen Type IV


associated dz?

Basement membrane ("four" = "floor"), basal lamina, LENS

Alport Syndrome - defect in synthesis
Goodpasture Syndrome - ab attack

64

Vimentin stain

Connective tissue

"Men like to connect tissues"

65

Desmin

muscle (desMin)

66

GFAP

neuroglia

67

cytokeratin

epithelial cells

68

neurofilaments

neurons

69

proline + lysine should make you think of

preprocollagen

70

vitamin c is required for what? deficiency results in

hydroxylation of proline+lysine residues on collagen. Deficiency --> scurvy

71

triple helix of 3 collagen a chains is called this:

where is it formed?

deficiency results in:

pro-collagen, formed in RER

deficiency: osteogensis imperfecta

72

defect in cross-linking of tropocollagen molecules to form collagen FIBRILS

where does this cross-linking process normally occur? What d/o do you see this in?

extracellular (outside fibroblasts)

Ehler-Danlos

73

decrease in production of normal type I collagen
sx?

Osteogenica imperfecta; autosomoal dominant
- factures
- blue sclerae
- hearing loss
-dental imperfections

74

ehlers-danlos syndrome - classical type

type V collagen deficiency; joint + skin sx (hyperextensible skin, hypermobile joints)

75

ehlers-danlos syndrome - vascular type

type III collagen deficiency: vascular (berry/aortic aneurysms) and organ rupture

76

patient w/ brittle, kinky hair, growth retardation, and hypotonia

Menkes disease - CT dz caused by impaired Cu absorption and transport (Cu is required for LYSYL OXIDASE to cross-link extracellular tropocollagen into collagen fibrils)

77

mutation in a glycoprotein that forms a sheath around elastin

Marfan syndrome - defect in fibrillin

78

deficiency in this enzyme that results in excess elastase activity.

patients should avoid this:

A1AT deficiency (emphysema)

must avoid smoking

79

what normally inhibits elastase?
mutation results in..?

A1AT

mutation: emphysema

80

northern blot

RNA

81

south-western blot

DNA binding proteins (TFs) - using labeled oligonucleotide probes

82

Indirect elisa

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

83

direct elisa

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

84

sensitivity/specificity of elisa?

both approaches 100

85

FISH

fluorescence in situ hybridization - RNA/DNA probe to localize specific genes on chromsomes

86

type of nuclei acid used in cloning

mRNA

1) Expose mRNA to RT --> cDNA (no introns).
2) Insert cDNA fragments into bacterial plasmids w. antibiotic resistance genes.
3) Transform recombinant plasmid into bacteria.
4). Surviving bacteria on antibiotic medium produce cDNA

87

dsRNA

RNAi (complementary to a mRNA sequence of interest; promotes degradation of target mRNA)

88

karyotyping uses what type of chromosomes?

metaphase chromsoomes

89

Codominance

example?

Both alleles contribute to the phenotype of the heterozygote.

Blood groups A, B, AB
α1-antitrypsin deficiency

90

Variable expressivity

example?

Phenotype varies among individuals with same genotype.

2 patients with NF1 may have varying disease severity.

91

Incomplete penetrance

example?

Not all individuals with a mutant genotype show the mutant phenotype.

BRCA1 mutation does not always result in breast/ovarian cancer

92

Pleiotropy

example?

One gene => multiple phenotypic effects

Untreated phenylketonuria (PKU) => light skin, intellectual disability, and musty body odor.

93

Anticipation

example?

Increased severity / earlier onset of disease in succeeding generations.

Trinucleotide repeat diseases (e.g., Huntington disease).

94

Loss of heterozygosity

example?

If a patient inherits or develops a mutation in a tumor suppressor gene, the complementary allele must be deleted/mutated before cancer develops. This is not true of oncogenes.

Retinoblastoma and the “two-hit hypothesis.”

95

Dominant negative mutation

heterozygote produces a nonfunctional altered protein that also prevents the normal gene product from functioning.

96

Linkage disequilibrium

certain alleles at 2 linked loci to occur together more often than expected by chance. Measured in a population

97

Mosaicism

example?

genetically distinct cell lines in the same individual that arises from mitotic errors after fertilization; can be somatic vs gonadal

McCune-Albright syndrome = lethal if somatic; survivable if mosaic.

98

somatic mosaicism

gonadal mosaicism

example?

Somatic mosaicism—mutation propagates through multiple tissues or organs.
Gonadal mosaicism—mutation only in egg or sperm cells.

McCune-Albright syndrome = lethal if somatic; survivable if mosaic

99

Locus heterogeneity

Allelic heterogeneity

locus = mutations at different loci can produce a similar phenotype (Albinism)

Allelic = different mutations in the same locus produce the same phenotype (β-thalassemia)

100

Heteroplasmy

Presence of both normal and mutated mtDNA, resulting in variable expression in mitochondrial inherited disease.

101

Uniparental disomy

Offspring receives 2 copies of a chromosome from 1 parent and no copies from the other parent; EUPLOID

compare heterodisomy vs isodisomy

102

heterodisomy vs isodisomy

Heterodisomy (heterozygous) = meiosis I error.

Isodisomy (homozygous) = meiosis II error or postzygotic chromosomal duplication of one of a pair of chromosomes, and loss of the other of the original pair.

103

Hardy-Weinberg population genetics eqns

p^2 + 2pq + q^2 = 1 and p + q = 1, which implies that:
p2 = frequency of homozygosity for allele p q2 = frequency of homozygosity for allele q 2pq = frequency of heterozygosity

104

carrier frequency, if an autosomal recessive disease

2pq (hardy weinberg)

105

frequency of an X-linked recessive disease in males? females?

males = q and in females = q^2

106

hyperphagia, obesity, intellectual disability, hypogonadism, and hypotonia.

Prader-Willi syndrome

107

gene from mom is normally silent and paternal gene is deleted/ mutated

Prader-Willi syndrome

108

inappropriate laughter (“happy puppet”), seizures, ataxia, and severe intellectual disability.

AngelMan syndrome

109

gene from dad is normally silent and Maternal gene is deleted/mutated.

AngelMan syndrome

110

predict inheritance: many generations, both male and female, affected

Autosomal dominant

111

predict inheritance: 25% of offspring from 2 carrier parents are affected; usually seen in only 1 generation

Autosomal recessive

112

predict inheritance: sons of heterozygous mothers have a 50% chance of being affected. No male-to-male transmission

X-linked recessive

113

Transmitted through both parents. Mothers transmit to 50% of daughters and sons; fathers transmit to all daughters but no sons.

X-linked dominant

114

Transmitted only through the mother. All offspring of affected females may show signs of disease.

Mitochondrial inheritance

115

chromosome mutation in ADPKD

16 - PKD1, 4 - PKD2 "16 letters in polycystic kidney"

116

chromosome mutation in FAP

5 - APC gene "5 words in polyp"

117

mutation in familial hypercholesterolemia

defective or absent LDL receptor; Elevated LDL, severe atherosclerotic disease early in life, and tendon xanthomas (classically in the Achilles tendon)

118

mutation in Hereditary hemorrhagic telangiectasia

d/o of blood vessels; telangiectasia, recurrent epistaxis, skin discolorations, AVMs, GI bleeding, hematuria.

119

mutation in Hereditary spherocytosis

spectrin or ankyrin defect; hemolytic anemia; increased MCHC. Treatment: splenectomy.

120

chromosome mutation in Huntington disease

4 - CAG trinucleotide repeat (anticipation); depression, progressive dementia, choreiform movements, caudate atrophy, and decrease levels of GABA and ACh in the brain.

121

mutation in Marfan's

Fibrillin-1 gene; tall with long extremities, pectus excavatum, hypermobile joints, and long, tapering fingers and toes (arachnodactyly); cystic medial necrosis of aorta

122

mutation in Multiple endocrine neoplasias (MEN)

MEN 2A and 2B are associated with ret gene.

123

chromosome mutation in NF1

17 - autosomal dominant; 100% penetrance with variable expression; café-au-lait spots and cutaneous neurofibromas.

124

chromosome mutation in NF2

22 - bilateral acoustic schwannomas, juvenile cataracts, meningiomas, and ependymomas

125

chromosome mutation in tuberous sclerosis

numerous benign hamartomas; incomplete penetrance, variable expression

126

chromosome mutation in von Hippel-Lindau disease

3 - VHL gene; development of numerous tumors

127

chromosome mutation in Cystic fibrosis

chromosome 7 - ATP-gated Cl- channel; mutation causes proteins to be retained in the RER (not transported to the cell membrane)

= secretes Cl− in lungs and GI tract
= reabsorbs Cl− in sweat glands

128

Cystic fibrosis pathophysiology and diagnosis

= secretes Cl− in lungs and GI tract
= reabsorbs Cl− in sweat glands

dx: increase Cl- in sweat, contraction alkalosis and hypokalemia because of ECF H2O/Na+ losses and concomitant renal K+/H+ wasting

129

Cystic fibrosis treatment

N-acetylcysteine = loosen mucus plugs (cleaves disulfide bonds within mucus glycoproteins)

Dornase alfa (DNAse) to clear leukocytic debris (mucolytic)

130

Cystic fibrosis complications

- Recurrent pulmonary infections (e.g., Pseudomonas)
- chronic bronchitis and bronchiectasis
- Reticulonodular pattern on CXR
- pancreatic insufficiency, malabsorption and steatorrhea
- nasal polyps
- meconium ileus in newborns
- Infertility in males (absence of vas deferens, absent sperm)
- Fat-soluble vitamin deficiencies (A, D, E, K)

131

chromosome mutation in Duchenne's

X-linked frameshift mutation (dystrophin gene (DMD) has the longest coding
region of any human gene -> increases chance of spontaneous mutations)

132

lab diagnosis of Duchenne's

increase CPK and aldolase
WB and muscle biopsy to confirm

133

Symptoms of Duchenne's

- weakness begins in pelvic girdle muscles and progresses superiorly
- Pseudohypertrophy of calf muscles
- Gower maneuver—patients use upper extremity to help them stand up
- Onset before 5 years of age
- Dilated cardiomyopathy is common cause of death.

134

Becker's

X-linked point mutation in dystrophin gene (no frameshift as in Duchenne's)

135

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

Fragile X syndrome (trinucleotide repeat d/o)
X-linked affecting methylation patterns of FMR1 gene
(2nd most common cause of intellectual disability)

136

chromsome mutation in Down syndrome

21

137

chromsome mutation in Edward syndrome

18

138

chromsome mutation in Patau syndrome

13

139

increased nuchal translucency and hypoplastic nasal nasal bone
decreased serum PAPPA, increased ßhCG

1st trimester Down Syndrome

140

low AFP, estriol
increase hCG, inhibin

2nd trimester Down Syndrome

141

increased nuchal translucency and hypoplastic nasal nasal bone
decreased serum PAPPA, ßhCG

Edwards Syndrome (18) - first trimester

142

low AFP, estriol, hCG, inhibin

Edwards Syndrome (18) - second trimester

143

low β-hCG, PAPP-A
increased nuchal translucency

Patau Syndrome (13)

144

evere intellectual disability, rocker- bottom feet, micrognathia (small jaw), low-set Ears, clenched hands, prominent occiput, congenital heart disease.
Death usually occurs within 1 year of birth.

Edwards syndrome (trisomy 18),

145

Severe intellectual disability, rocker- bottom feet, microphthalmia, microcephaly, cleft liP/Palate, holoProsencephaly, Polydactyly, congenital heart disease.
Death usually occurs within 1 year of birth.

Patau syndrome (trisomy 13)

146

intellectual disability, flat facies, prominent epicanthal folds, single palmar crease, gap between 1st 2 toes, duodenal atresia, Hirschsprung disease, congenital heart disease (most commonly ostium primum-type atrial septal defect [ASD]), Brushfield spots.

Down Syndrome (21)

147

Associated with increase risk of ALL, AML, and Alzheimer disease (> 35 years old).

Down Syndrome

148

these numbers make you think of...?

13, 14, 15, 21, and 22

Robertsonian translocation - these are acrocentric chromosomes (chromosomes with centromeres near their ends)

balanced translocations = no abnormal phenotype
Unbalanced translocations = miscarriage, stillbirth, and chromosomal imbalance (e.g., Down syndrome, Patau syndrome).

149

microcephaly, moderate to
severe intellectual disability, high-pitched crying/mewing, epicanthal folds, cardiac abnormalities (VSD)

Cri du chat = cry of the cat

150

chromsome abnormality in Cri-du-chat syndrome

5 - microdeletion of short arm
Cri du chat syndrome

151

“elfin” facies, intellectual disability, hypercalcemia (increased sensitivity to vitamin D), well-developed verbal skills, extreme friendliness with strangers, cardiovascular problems.

7 - microdeletion of long arm (deleted region includes elastin gene)

Williams syndrome

152

22q11 deletion

DiGeorge Syndrome - thymic, parathyroid, and cardiac defects.
"CATCH-22"
Cleft palate
Abnormal facies
Thymic aplasia -> T-cell deficiency
Cardiac defects
Hypocalcemia 2° to parathyroid aplasia

153

thymus develops from which branchial pouches?

Due to aberrant development of **3rd** and 4th branchial pouches

154

main processes that go on after a fasting state?

Hepatic glycogenolysis (major)

hepatic gluconeogenesis, adipose release of FFA (minor).

Glucagon, adrenaline stimulate use of fuel reserves.

155

main processes that go on during d1-3 of starvation?

Blood glucose maintained by:
hepatic glycogenolysis + gluconeogenesis
adipose release of FFA
muscle + liver shift fuel use from glucose -> FFA

156

Hepatic gluconeogenesis relies on these things

peripheral tissue: lactate + alanine

adipose tissue: glycerol and propionyl- CoA (from odd-chain FFA—the only TG components that contribute to gluconeogenesis)

157

main processes that go on after d3 of starvation?

Adipose stores (ketone bodies become the main source of energy for the brain)

After these are depleted, vital protein degradation accelerates, leading to organ failure and death.

158

Rate-limiting step of cholesterol synthesis?

HMG-CoA

Statins competitively and reversibly inhibit HMG-CoA reductase.

159

Pancreatic lipase

degradation of dietary triglycerides (TG) in small intestine.

160

Lipoprotein lipase (LPL)

degradation of TG circulating in chylomicrons and VLDLs. Found on vascular endothelial surface.

161

Hepatic TG lipase (HL)

degradation of TG remaining in IDL.

162

Hormone-sensitive lipase

degradation of TG stored in adipocytes.

163

LCAT

catalyzes esterification of cholesterol.

164

Cholesterol ester transfer protein (CETP)

mediates transfer of cholesterol esters to other
lipoprotein particles.

165

ApoE

Mediates chyloµ remnant uptake by LDL receptors on hepatocytes (liver uptake)

166

ApoAI

Activates LCAT to esterify cholesterol on nascent HDL -> forms mature HDL

167

ApoCII

activates Lipoprotein Lipase on peripheral cells to deliver TGs

168

ApoB48

liver sends this out during the FED state to mediate chylo-µ transport from the gut into circulation (delivers dietary TG to peripheral tissues)

169

ApoB100

packaged into VLDL particles that the liver sends out during the FASTING state to deliver cholesterol + FA to peripheral tissues

170

chylomicron function? produced by?

1) delivers dietary TGs to peripheral tissue.
2) delivers cholesterol to liver in the form of chylomicron remnants, which are mostly depleted of their TGs.

3) Secreted by intestinal epithelial cells, packaged w/ ApoB48, ApoE, ApoCII and ApoCIII

171

VLDL function? produced by?

packaged with ApoB100; delivers HEPATIC TGs to peripheral tissues during FASTING state

172

IDL function? produced by?

Formed in the degradation of VLDL; delivers remaining TGs and cholesterol to liver.

173

LDL function? produced by?

Delivers hepatic cholesterol to peripheral tissues. Formed by hepatic lipase modification of IDL in the peripheral tissue. Taken up by target cells via receptor-mediated endocytosis.

174

HDL function? produced by?

Mediates reverse cholesterol transport from periphery to liver. Acts as a repository for ApoC and ApoE (which are needed for chylomicron and VLDL metabolism). Secreted from both liver and intestine. Alcohol increases synthesis.

175

Type I hyper-chylomicronemia
- pathophys?
- increased blood levels of?

ø Lipoprotein lipase or altered Apo C-II (AR)

forms excess Chylomicrons, TG, cholesterol

176

Type IIa—familial hyper- cholesterolemia
- pathophys?
- increased blood levels of?

ø LDL receptors (AD)

forms excess LDL, cholesterol

177

IV—hyper- triglyceridemia
- pathophys?
- increased blood levels of?

Hepatic overproduction of VLDL (AD)

forms excess VLDL, TG

178

familial dyslipidemia that causes
-pancreatitis
-hepatosplenomegaly
-eruptive/pruritic xanthomas

Type I hyperchylomicronemia (no risk for atherosclerosis)

179

familial dyslipidemia that causes
-accelerated atherosclerosis (may have MI before 20)
-tendon xanthomas
-corneal arcus

Type IIa—familial hyper- cholesterolemia - LDL increases atheroma risk

180

familial dyslipidemia that causes pancreatitis only

Type IV hyper- triglyceridemia

181

Telomerase

RNA dependent DNA polymerase (in other words, reverse transcriptase) that adds DNA to 3' end of chromosomes to avoid loss of genetic material w/ every dupliation

182

what is common to ALL tRNAs (both eukaryotic and prokaryotic)?

CCA at 3' end of tRNA; serves as a linker of the tRNA and the a.a.

183

difference btwn T arm and D arm of tRNA

T arm = contains sequence for tRNA ribosome binding
D arm = contains dihydrouracil for tRNA recognition by the correct aminoacyl tRNA synthesis

184

linker of a.a. and the proper tRNA

aminoacyl-tRNA synthetase (1 per a.a.; serves as a matchmaker) - serves as a match maker and is responsible for adding the right a.a. to the right tRNA.
tough job.

185

collagen is comprised mostly of

glycine (followed by proline + lysine)

186

how does Arsenic affect glycolysis?

physical presentation of this?

causes it to produce 0 net ATP because it inhibits lipoic acid, which is present in the pyruvate dehydrogenase complex as well as the a-ketoglutarate dehydrogenase complex

physical presentation: vomiting, rice water stool, and GARLIC breath...say what?

187

gene mutation associated with Maturity-onset diabetes of the young (MODY)

Glucokinase

188

essential a.a.?

methionine
Valine
histidine
Isoleucine
Phenylalanine
Threonine
Tryptophan
Leucine
Lysine

PITT Essentially LIEd to LUCy about going to the MET with HIS ex VALerie

189

dyslipidemias - which two particles are responsible for causing pancreatitis?

chyloµ + VLDL

190

dyslipidemias - which two particles are responsible for causing fatty liver?

VLDL + IDL

191

dyslipidemias - which two particles are responsible for causing pancreatitis?

LDL + lipo(a)

192

what happens if hepatic lipase is mutated?

increased HDL - good mutation to have!

193

what happens if ABCA1 is mutated?

ABCA1 functions to remove excess cholesterol + FFA from peripheral tissues

∆ ABCA1 = Tangier's disease - severe reduction in HDL particles and accumulation of cholesterol in many body tissues

Presentation:
- Tangier's tonsils (extremely enlarged, orange/yellow)
- premature atherosclerosis
- slightly elevated amounts of fat in circulation
- other signs
-> enlarged spleen, liver
-> clouding of cornea
-> early onset of cardiovascular disease