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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.

Human Anatomy & Physiology (11th Edition)
Human Anatomy & Physiology (11th Edition)
11th Edition
ISBN:9780134580999
Author:Elaine N. Marieb, Katja N. Hoehn
Publisher:Elaine N. Marieb, Katja N. Hoehn
Chapter1: The Human Body: An Orientation
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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.
Transcribed Image Text: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.
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