Genetic disorder-aberrant gene splicing

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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 α-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?

Reference no: EM1368155

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