Protein Translation Disorders
1 Which genetic disorder (other than Alzheimer’s disease,
familial amyotrophic lateral sclerosis, Huntington’s disease, Parkinson’s
disease, Lewy body dementia, and prion disorders) results from protein
misfolding? How does protein misfolding result in the onset of the disorder? In
your opinion, is there sufficient current research on drugs or treatment for
your chosen disorder?
2 Describe a genetic disorder (other than ?-thalassemia
mental retardation syndrome, immunodeficiency-centromeric instability-facial
anomalies [ICF] syndrome, Rett syndrome, and Rubinstein-Taybi syndrome) that
results from aberrant chromatin remodeling Does the disorder result from
adding or deleting acetyl, methyl, or phosphate groups? Explain Does the
abnormal chromatin remodeling affect other genes?
3 Describe a genetic disorder that results from aberrant
gene splicing How does alternative splicing affect the disorder? Where in the
gene does the aberrant splicing occur?