Exam 2 Diseases and Drugs Flashcards
(51 cards)
1
Q
Nucleoside Analog Inhibitors
A
they lack a 3’ OH and inhibit replication.
- Acyclovir and azidothymidine (AZT)
2
Q
Xeroderma Pigmentosum
A
- Nucleotide excision repair
- skin cancer
- UV sensitivity
- neurological abnormalities
3
Q
Hereditary nonpolyposis colorectal cancer (HNPCC)
A
- Mismatch excision repair
- autosomal dominant
4
Q
BRCA associated breast cancer
A
- Recombination repair (homologous)
- breast, ovarian and prostate cancer
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
6
Q
Cross-linking agents
A
- Nitrogen mustard
- Cisplatin
- Mitomycin C
- Carmustine
7
Q
Alkylating agents
A
- Dimethyl sulfate (DMS)
- Methyl methanesulfonate (MMS)
8
Q
Intercalating agent
A
Thalidomide
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
10
Q
MSH2, 3, 6, MLH1, PMS2
A
- mismatch repair
- colon cancer
11
Q
Ataxia Telangiectasia (AT)
A
- ATM protein, protein kinase activated by double-strand breaks
- leukemia
- lymphoma
- gamma-ray sensitivity
- genome instability
12
Q
Fanconi anemia groups A-G
A
- DNA interstrand cross-link repair
- congenital abnormalities
- leukemia
- genome instability
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.
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
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
16
Q
Streptomycin
A
- binds to 30S to disrupt initiation of translation
- interferes with fmet-tRNA binding.
- interferes with 30S and 50S subunit association
17
Q
Shinga toxin and Ricin
A
- binds to 60S to disrupt elongation (Eu)
- blocks entry of aminoacyl-tRNA to ribosomal complex
18
Q
Clindamycin and erythromycin
A
- binds to 50S to stop translocation of the ribosome (pro)
- erythromycin used to treat purtussis
19
Q
Tetracyclines
A
- bind to 30s to stop elongation (Pro)
- blocking entry of aminoacyl-tRNA to ribosome complex
20
Q
Diptheria toxin
A
- inactivates EF2-GTP and inhibits elongation
- interferes with ribosomal translocation (euk)
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
Post-translational modifications of collagen
- 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
Alzheimer's disease
- 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
Parkinson's disease
- 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
Huntington's disease
- 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
Critzfeldt-Jacob disease
- 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
Abciximab
inhibits platelet aggregation
31
Bacilimab
prevents rejection of transplanted kidney
32
Cetuximab
treats metastatic colorectal cancer
33
Infliximab
treats autoimmune diseases
34
Retuximab
treats lymphomas and leukemias
35
Indirect ELISA
measures amount of antibody
36
Sandwich ELISA
measures amount of antigen
37
Turner Syndrome
- 45, XO
- female
- short stature
- reproductive issues
- webbed neck and low hairline on neck
- CV defects
- normal intelligence
38
Klinefelter Syndrome
- 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
Trisomy 21
- downs syndrome
- increased with maternal age
- can also occur because of translocation of 14:21
40
Trisomy 13
- Patau syndrome
- severe developmental abnormalities
- most perinatal death within 1 week
41
Trisomy 18
- Edwards syndrome
- abnormal development
- most perinatal death within 1 year
42
Prader-Willi Syndrome
- deletion of region of chromosome 15
- from father
- short
- hypotonia
- small hands and feet
- obesity
- mild-moderate intellectual disability
43
Angelman Syndrome
- deletion of region of chromosome 15
- from mother
- severe intellectual disability
- seizures
- ataxic gait
44
Osteogenesis imperfecta
- mutations in collagen genes
- at loci 7 and 17
- same phenotype shown in both mutations
45
Leber's heredity optic neuropathy (LHON)
- degeneration of retinal ganglion cells
| - acute or subacute loss of central vision (teens or early 20s)
46
Mitochodrial encephalomyopathy, lactic acidosis, and stroke-like episodes (MELAS)
- affects many body systems, particularly brain and nervous and muscles
- stroke and dementia
- lactic acidosis
47
Pyloric stenosis
- example of multifactorial inheritance with threshold
- 5X more common in males
- males need less risk genes
48
Breast cancer
- 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
Glioblastoma
- EGF receptor
- deletion
- RTK activity is constitutively active
50
Chronic myelogenous leukemia (CML)
- chromosome 9 and 22 translocation
- BCR-ABL gene expression (fusion protein)
- treated with gleevec
51
Retinoblastoma
- mutation or deletion of one copy of Rb gene
- cells predisposed
- needs second hit to get cancer
- heritable form affects both eyes
