Chapter 14, Problem 37ESP

(a)

Summary Introduction

To determine: The prediction that can be made about impaired protein synthesis after the introduction of a missense mutation in the mtAlaRS gene.

Introduction: Infantile cardiomyopathy is a fetal disorder during the first year of life due to the defects in the function of heart muscles. The heart muscles undergo dysfunction due to defects in the function of mitochondria.

(b)

Summary Introduction

To determine: The reason behind the type of mutation that results in more harmful dysfunction in the translation in mitochondria.

Introduction: The mutation in mitochondrial alanyl-tRNA synthetase is caused by two specific changes in the amino acid. The first change occurs at position 155 from leucine to arginine. The second change occurs at position 592 from arginine to tryptophan.