Cellular Flashcards

1
Q

Carbamoyle Phosphate synthetase I and II

A

I: urea cycle
Mitochondria
Nitrogen source-ammonia

II: pyrimidine
Cytosolic
Nitrogen source: glutamine

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2
Q

Leflunomide

A

Inhibits dihyrdroorate dehydrogenase

Pyrimidine synthesis

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3
Q

Methotrexate
TMP
Pyrimethamine

A

Inhibit dihydrofolate reductase
–> decreased THF, INDIRECTLY blocking dUMP conversion to TMP
(Same action as 5 FU, but FU works directly)

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4
Q

5 fluorouracil

A

Forms 5 F dump
Inhibits thymidylate synthase
Decreased dTMP
(Same site of action as methotrexate, TMP and Pyrimethamine)

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5
Q

Orotic Aciduria

A
Deficiency in UMP synthase= Increased ortic acid in urine
Failure to thrive, developmental delay and MEGALOBLASTIC ANEMIA, refractory to Vit B12 and Folate supplementation 
NO HYPERAMMONEMIA (vs. ornithine transcarbomoylase) 
Tx: uridine supplementation
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6
Q

Purine synthesis rate limiting enzyme

A

Glutamine PRPP amino transferase

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7
Q

Azathioprine and 6 mercaptopurine

A

Inhibit de novo PURINE synthesis : block PRPP becoming IMP

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8
Q

mycophenolate and ribavirin

A

Inhibit inosine mono phosphate dehydrogenase
Blocks conversion of IMP to GMP
PURINE synthesis

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9
Q

hydroxyurea

A

Inhibits ribonucleotide reductase
Pyrimidine synthesis
UDP does not become dUDP

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10
Q

Purine Salvage deficiencies

A

Adenosine deaminase deficiency

Leach Nyhan Syndrome

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11
Q

Adenosine Deaminase deficiency

A

Increased dATP: toxicity in lymphocytes

Autosomal recessive SCID

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12
Q

Leach Nyhan Syndrome

A

X linked, absent HGPRT(unable to salvage to GMP and IMP)
Excess uric acid production and de novo purine synthesis

S/s: self mutilation (lip biting), aggression, retardation, hyperuricemia, gout, dystonia
Tx: allopurinol
“Allie can’t salvage her friends. She’s a man so she bites her lip and does the robot. She ain’t retarded, she’s just pissed off.”

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13
Q

Fluoroquinolones

A

Topoisomerase II and topoisomerase IV inhibitors

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14
Q

Etoposide/teniposide

A

Eukaryotic topoisomerase II

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15
Q

DNA polymerase III vs. polymerase I

A

Both: 5-3 synthesis and proofreads with 3-5 exonuclease
Prokaryotic
I: excises RNA primer with 5-3 exonuclease
III: does most of the transcription

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16
Q

Telomerase

A

Eukaryotes only
RNA dependent DNA polymerase
adds DNA to 3 end

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17
Q

Example of missense mutations

A

Sickle Cell disease (substitution of glutamic acid with valine)

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18
Q

Frameshift

A

Deletion or insertion of nucleotides NOT DIVISIBLE BY 3
Ex: Duchenne’s muscular dystrophy
Tay Sach’s disease

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19
Q

Lac operon

A

Activated when glucose is absent and lactose is available
Low glucose: increased CAP and increased transcription
High lactose: binds repressor protein: increase transcription

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20
Q

Nucleotide excision repair

A

Endonuclease
Repairs bulky, helix distorting lesions
G1 phase of cell cycle
DEFECTIVE IN xeroderma pigmentosum

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21
Q

Base excision repair

A
Spontaneous deamination 
Glycosylases remove base, creates an "AP" site
Nucleotides removed by Endonuclease
DNA poly fills gap 
Ligase seals
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22
Q

Mismatch repair

A

Newly synthesized strand is recognized, mismatched nucleotides are removed
G2 phase of cell cycle
Defective in Lynch syndrome (HNPCC)

23
Q

Nonhomologous end joining

A

Repairs doubled stranded breaks
Mutated in ataxia telangiectasia (defect in ATM gene: failure to repair DNA double strand breaks: cell cycle arrest)
–cerebellar defects, spider angiomas, IgA deficiency
–increased AFP

Fanconi anemia (DNA repair defect causing bone marrow failure)

24
Q

Eukaryotic RNA polymerases

A

Poly I: rRNA
Poly II: mRNA
–inhibited by amanitin
Poly III: tRNA

25
Q

Prokaryotic RNA polymerase

A

1 polymerase makes all 3 types of RNA

Inhibited by Rifampin

26
Q

Splicing of pre mRNA: small nuclear ribonucleoproteins

A

Antibodies to snRNPs in Lupus

27
Q

Trna structure

A

5’ CCA 3’ end accepts amino acids

Cloverleaf

28
Q

Charging of tRNA

A

Aminoacyl -tRNA synthetase “matchmaker”

Responsible for accuracy of amino acid selection

29
Q

Pyrimidine base synthesis rate limiting enzyme

A

Carbamoyl phosphate synthetase II

30
Q

Eukaryotic vs. prokaryotic ribosomes

A

EUK: 40S + 60S = 80S
PRO: 30S + 50S = 70S

31
Q

Cell cycle phases

A
Regulated by cyclins, CDKs and tumor suppressors 
G1 (growth) 
S (DNA synthesis) 
G2
M/MITOSIS
32
Q

P53 function

A

Tumor suppressor
Induces p21: inhibits CDK’s –> hypophosphorylated Rb
Rb then binds to and inactivates transcription factor E2F

33
Q

Permanent cells

A

Remain in G0, regenerate from stem cells

34
Q

Stable cells

A

Enter G1 from G0 when stimulated

Ex: hepatocytes and lymphocytes

35
Q

Nissl bodies

A

Rough ER in neurons

36
Q

I cell disease

A

Lysosomal storage disorder
Defect in N-acetylglucosaminyl-1-phosphotransferase
Golgi does not phosphorylate mannose residues –> proteins secreted extracellularly instead of being delivered to the lysosome.

S/s : coarse facial features, clouded corneas, restricted joint movement, high plasma levels of lysosomal enzymes

37
Q

Peroxisome

A

Catabolism of very long chain fatty acids, blanched chain fatty acids, amino acids and ethanol

38
Q

Vimentin stain

A

Mesenchymal tissue

Ex: fibroblasts, endothelial cells, macrophages

39
Q

Desmin

A

Muscle

Rhabdomyosarcoma

40
Q

Cytokeratin

A

Epithelial cells

Squamous cell carcinoma

41
Q

GFAP

A

Neuroglia

Astrocytoma, glioblastoma

42
Q

Neurofilaments

A

Neurons

Neuroblastoma

43
Q

Drugs that act on microtubules

A
"Microtubules get constructed Very Poorly" 
Mebendazole
Griseofulvin
Colchicine
Vincristine/vinblastine
Paclitaxel
44
Q

Dynein vs. kinesin: molecular motor proteins

A

Dynein: retrograde to Microtubule- positive to negative
Kinesin: anterograde negative to positive

45
Q

Cilia structure

A

9 + 2 arrangement of Microtubule doublets

46
Q

Kartagener Syndrome

A

Immotile cilia due to dynein arm defect
Infertility due to immotile sperm and dysfunctional Fallopian tube cilia
Can cause bronchiectasis, recurrent sinusitis, situs inversus

47
Q

Na/K ATPase

A

2K in / 3 Na out

ATP binding site is on cytosolic side of the membrane

48
Q

Inhibitors of sodium potassium pump

A

Ouabain: binds to K site
Digoxin: directly inhibit Na/K ATPase: indirect inhibition of Na/Ca exchange –> increased cardiac contractility

49
Q

Collagen

A
A strong, slippery, bloody BM
Type I: bone, skin, tendon 
Ex: osteogenesis imperfecta
II: cartilage 
III: reticulin: Blood vessels 
Ex: vascular Ehlers-Danlos 
IV: Basement membrane 
--Alport syndrome 
--targeted by autoantibodies in Goodpastures syndrome
50
Q

Collagen structure

A
1. Gly-X-Y 
X and y are proline or lysine 
2. Hydroxylation: requires VIT C 
3. Glycosylation --form triple helix 
--osteogenesis imperfecta
4. Exocytosis and proteolytic processing
5. Cross linking 
--ehlers-dahlia and Menkes disease
51
Q

Osteogenesis Imperfecta

A
Autosomal dominant 
Decreased production of type I collagen 
May be confused with CHILD ABUSE 
--multiple fractures
--BLUE SCLERAE
--hearing loss 
--tooth abnormalities
52
Q

Ehlers-Danlos

A
Auto Dom or recessive
Faulty collagen synthesis
Hyperextensible skin
Tendency to bleed
Berry and aortic aneurysms 
Organ rupture
53
Q

Menkes disease

A

X linked recessive connective tissue disease caused by impaired copper absorption and transport due to defective Menkes protein
Brittle, kinky hair, growth retardation and hypotonia