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MCM 2018 > Exam 2 Diseases and Drugs > Flashcards

Exam 2 Diseases and Drugs Flashcards

1
Q

Nucleoside Analog Inhibitors

A

they lack a 3’ OH and inhibit replication.

  • Acyclovir and azidothymidine (AZT)
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2
Q

Xeroderma Pigmentosum

A
  • Nucleotide excision repair
  • skin cancer
  • UV sensitivity
  • neurological abnormalities
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3
Q

Hereditary nonpolyposis colorectal cancer (HNPCC)

A
  • Mismatch excision repair

- autosomal dominant

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4
Q

BRCA associated breast cancer

A
  • Recombination repair (homologous)

- breast, ovarian and prostate cancer

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5
Q

Topoisoemrase inhibitors

A

act as anti-cancer agents by:

  • blockin the cell cycle
  • generate signal and double strand breaks
  • harms the integrity of the genome
  • leads to apoptosis and cancer cell death
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6
Q

Cross-linking agents

A
  • Nitrogen mustard
  • Cisplatin
  • Mitomycin C
  • Carmustine
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7
Q

Alkylating agents

A
  • Dimethyl sulfate (DMS)

- Methyl methanesulfonate (MMS)

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8
Q

Intercalating agent

A

Thalidomide

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9
Q

Cockayne syndrome

A
  • Transcription-coupled repair defect
  • nucleotide excision repair
  • growth retardation
  • skeletal abnormalities
  • sensitivity to light
  • RNA polymerase permanently stalled at sites of damage in important genes
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10
Q

MSH2, 3, 6, MLH1, PMS2

A
  • mismatch repair

- colon cancer

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11
Q

Ataxia Telangiectasia (AT)

A
  • ATM protein, protein kinase activated by double-strand breaks
  • leukemia
  • lymphoma
  • gamma-ray sensitivity
  • genome instability
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12
Q

Fanconi anemia groups A-G

A
  • DNA interstrand cross-link repair
  • congenital abnormalities
  • leukemia
  • genome instability
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13
Q

Rifampicin

A
  • inhibits bacterial RNA synthesis
  • side effects - up-regulation of hepatic cytochrome p450 and thus increases metabolism of other drugs (warfarin) and hormones (contraceptive steroids).
  • causes red color of urine, sweat and tears for short time after starting.
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14
Q

Sickle Cell Anemia

A
  • Mutation changes GAG to GTG which make Val (hydrophobic) to Glu (neg charge, hydrophilic)
  • RBCs with poor oxygen capacity and tend to clog capillaries
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15
Q

Duchenne Muscular Dystrophy

A
  • dystrophin gene
  • large in frame deletions make truncated forms of gene, results in Becker muscular dystrophy
  • Out of frame deletions result in little or no expression of proteins and cause Duchenne muscular dystrophy
  • muscle is replaced with fat and fibrois, elevated CK
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16
Q

Streptomycin

A
  • binds to 30S to disrupt initiation of translation
  • interferes with fmet-tRNA binding.
  • interferes with 30S and 50S subunit association
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17
Q

Shinga toxin and Ricin

A
  • binds to 60S to disrupt elongation (Eu)

- blocks entry of aminoacyl-tRNA to ribosomal complex

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18
Q

Clindamycin and erythromycin

A
  • binds to 50S to stop translocation of the ribosome (pro)

- erythromycin used to treat purtussis

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19
Q

Tetracyclines

A
  • bind to 30s to stop elongation (Pro)

- blocking entry of aminoacyl-tRNA to ribosome complex

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20
Q

Diptheria toxin

A
  • inactivates EF2-GTP and inhibits elongation

- interferes with ribosomal translocation (euk)

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21
Q

Chloramphenicol

A
  • inhibits peptidyl transferase (pro/mito)
22
Q

Cycloheximide

A
  • inhibits peptidyl tranferase (euk)
23
Q

Puromycin

A
  • causes premature chain termination (pro/euk)
  • resembles 3’ end of aminoacylated-tRNa
  • enters A site and adds to growing chain
  • forms puromycylated chain and leads to premature chain release .
24
Q

I cell disease

A
  • severe form of lysosomal storage disease

- tagging of lysosomal proteins with mannose-6P is defective

25
Q

Post-translational modifications of collagen

A
  • ascorbic acid needed for activity of lysyl and prolyl hydroxylases
  • defects in lysyl hydroxylases cause skin, bone and joint disorders like Ehlers-Danlos syndrome, Nevo syndrome, Bruck syndrome, Epidermolysis Bullosa Simplex.
26
Q

Alzheimer’s disease

A
  • loss of memory, cognitive function, language
  • APP breaks down to form amyloid beta peptide
  • misfolding and aggregation of AB causes plaques
  • hyperphosphorylation of Tau (neurofibrillary tangles)
  • mutations in APP and Tau causes familial forms
27
Q

Parkinson’s disease

A
  • impairment of fine motor control
  • alpha-synuclein (AS) forms insoluble fibrils that deposit as Lewy bodies in dopaminergic neurons in substantia nigra
  • symptoms due to reduced dopamine availability
  • mutations in AS cause familial
28
Q

Huntington’s disease

A
  • loss of movement and cognitive functions and psychiatric problems
  • Huntingtin gene mutation
  • CAG triplet repeats
  • results in polyglutamine repeatd in abnormal HTT protein (intramolecular H binds that misfold and aggregate)
  • selective death of cells in basal ganglia cause symptoms
29
Q

Critzfeldt-Jacob disease

A
  • failing memory, behavioral changes, lack of coordination and visual disturbances. Late stages involve metal deterioration, blindness, weakness of extremities and coma.
  • misfolding of prion proteins
  • transmissible - infection converts normal proteins to misfolded form
  • is a Transmissible spongiform encephalopaties (TSEs)
30
Q

Abciximab

A

inhibits platelet aggregation

31
Q

Bacilimab

A

prevents rejection of transplanted kidney

32
Q

Cetuximab

A

treats metastatic colorectal cancer

33
Q

Infliximab

A

treats autoimmune diseases

34
Q

Retuximab

A

treats lymphomas and leukemias

35
Q

Indirect ELISA

A

measures amount of antibody

36
Q

Sandwich ELISA

A

measures amount of antigen

37
Q

Turner Syndrome

A
  • 45, XO
  • female
  • short stature
  • reproductive issues
  • webbed neck and low hairline on neck
  • CV defects
  • normal intelligence
38
Q

Klinefelter Syndrome

A
  • 47, XXY
  • some with no/limited symptoms
  • varying cognitive, learning, social and behavioral difficulties
  • primary hypogonadism
  • small or undescended testes
  • gynecomastia (male breasts)
  • tall
  • infertile
  • can be mosaic
  • as the number of X’s increase, so can symptoms
39
Q

Trisomy 21

A
  • downs syndrome
  • increased with maternal age
  • can also occur because of translocation of 14:21
40
Q

Trisomy 13

A
  • Patau syndrome
  • severe developmental abnormalities
  • most perinatal death within 1 week
41
Q

Trisomy 18

A
  • Edwards syndrome
  • abnormal development
  • most perinatal death within 1 year
42
Q

Prader-Willi Syndrome

A
  • deletion of region of chromosome 15
  • from father
  • short
  • hypotonia
  • small hands and feet
  • obesity
  • mild-moderate intellectual disability
43
Q

Angelman Syndrome

A
  • deletion of region of chromosome 15
  • from mother
  • severe intellectual disability
  • seizures
  • ataxic gait
44
Q

Osteogenesis imperfecta

A
  • mutations in collagen genes
  • at loci 7 and 17
  • same phenotype shown in both mutations
45
Q

Leber’s heredity optic neuropathy (LHON)

A
  • degeneration of retinal ganglion cells

- acute or subacute loss of central vision (teens or early 20s)

46
Q

Mitochodrial encephalomyopathy, lactic acidosis, and stroke-like episodes (MELAS)

A
  • affects many body systems, particularly brain and nervous and muscles
  • stroke and dementia
  • lactic acidosis
47
Q

Pyloric stenosis

A
  • example of multifactorial inheritance with threshold
  • 5X more common in males
  • males need less risk genes
48
Q

Breast cancer

A
  • HER2 receptor
  • val to gln mutation
  • results in gene amplification as well
  • now called NEU (point mutation form)
  • receptor dimerize and tyrosine kinase is inactive in absence of ligand
49
Q

Glioblastoma

A
  • EGF receptor
  • deletion
  • RTK activity is constitutively active
50
Q

Chronic myelogenous leukemia (CML)

A
  • chromosome 9 and 22 translocation
  • BCR-ABL gene expression (fusion protein)
  • treated with gleevec
51
Q

Retinoblastoma

A
  • mutation or deletion of one copy of Rb gene
  • cells predisposed
  • needs second hit to get cancer
  • heritable form affects both eyes

MCM 2018 (2 decks)

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