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
icon
Related questions
Question
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.
Expert Solution
steps

Step by step

Solved in 2 steps

Blurred answer
Knowledge Booster
Genomic studies
Learn more about
Need a deep-dive on the concept behind this application? Look no further. Learn more about this topic, biology and related others by exploring similar questions and additional content below.
Similar questions
  • SEE MORE QUESTIONS
Recommended textbooks for you
Biology: The Dynamic Science (MindTap Course List)
Biology: The Dynamic Science (MindTap Course List)
Biology
ISBN:
9781305389892
Author:
Peter J. Russell, Paul E. Hertz, Beverly McMillan
Publisher:
Cengage Learning