1. Hypertrophic cardiomyopathy (HCM) is an inherited disease, characterized by severe chest pain, difficult breathing, palpitations and exercise limitation. Mutations in a cardiac actin gene (ACTC) have been reported to be the basis for this disease. Several studies have shown that ACTC mutations are missense mutations in the nucleotide binding pocket of the actin protein. Provide a scientific explanation why the above mutations in the cardiac actin protein would affect its function.
1. Hypertrophic cardiomyopathy (HCM) is an inherited disease, characterized by severe chest pain, difficult breathing, palpitations and exercise limitation. Mutations in a cardiac actin gene (ACTC) have been reported to be the basis for this disease. Several studies have shown that ACTC mutations are missense mutations in the nucleotide binding pocket of the actin protein. Provide a scientific explanation why the above mutations in the cardiac actin protein would affect its function.
Biology: The Dynamic Science (MindTap Course List)
4th Edition
ISBN:9781305389892
Author:Peter J. Russell, Paul E. Hertz, Beverly McMillan
Publisher:Peter J. Russell, Paul E. Hertz, Beverly McMillan
Chapter16: Regulation Of Gene Expression
Section: Chapter Questions
Problem 13TYK
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