RNA Translation Flashcards
Frameshift mutation
insertion or deletion. alters ORF
Silent mutation
point mutation. no effect. (more common in 3rd pos)
degenerate flexibility in 3rd position. Wobble hypothesis
Missense mutation
point mutation changes (more common in 1st,2nd pos). changes single codon. NOT frameshift (insertion/deletion).
Nonsense mutation
stop codon (UAA, UAG, UGA)
Leukoencephalopathy (w/ CNS Hypomyelination and Vanishing White Matter (VWM)
missense mutation in eIF2 (mediates formation of Ternary preinitiation complex), which prevents misfolding my preventing translation during fever. eIF2 less effective in stalling translation during fever–>misfolding–>glial death–>myelin sheath loss
loss of myelin sheath. neuro: speech, manual dexierity. common cause=fever. also severe head trauma. severity inversely correlated with age.
TetrAcycline
bacterial antibiotic. inhibits binding to A
Choramphenicol
bacterial antibiotic. inhibits Peptide bond formation
Erythromycin
bacterial antibiotic. inhibits translocation to E
Streptomycin
bacterial antibiotic. blocks transition from A to P
Rifamycin
bacterial antibiotic. inhibits RNA Pol binding
Alzheimer’s
misfolding APP (Amyloid Precursor Protein). a helix-->beta sheet misfolding. B-amyloid plaques extracellular. intracellular neurofibrillary tangles. neuronal death. ApoE4 increased risk. ApoE2 protective.
Type II Diabetes
misfolding Amylin/Islet Amyloid Polypeptide (IAPP). NOT TO BE CONFUSED WITH AMYLOID in Alzheimer’s. pancreatic B islet cell death. insulin def.
Prion diseases
protein misfolding of prion proteins. amyloid-like proteins.
Huntington’s
misfolding Huntingtin (HTT) protein into mutant mHTT. CAG repeats, polyQ residues. amyloid dep interferes w/ neurotransmitter release. neuronal death.
Parkinson’s
misfolding a-synuclein. aggregates LEWY bodies. dopaminergic neuron death. decrease DOPAMINE (vs increased dopamine in Schizo).
