Can disease-causing mutations occur in mitochondrial genes?
Yes. Disease-causing mutations can occur in the mitochondrial genes. The disorders are often, as one would predict, associated with energy deficits in cells with high energy requirements, such as nerve and muscle cells. The disorders as a whole are called mitochondrial disorders. Mitochondrial disorders affecting muscle are known as mitochondrial myopathies.
Yes. Disease-causing mutations can occur in the mitochondrial genes. The disorders are often, as one would predict, associated with energy deficits in cells with high energy requirements, such as nerve and muscle cells. The disorders as a whole are called mitochondrial disorders. Mitochondrial disorders affecting muscle are known as mitochondrial myopathies. How are mitochondrial mutations inherited? Mitochondrial DNA inheritance comes only through the mother and is therefore completely different from nuclear (from the nucleus) DNA inheritance. The rules for recessive, dominant and X-linked inheritance don’t apply at all. An embryo receives its mitochondria from the mother’s egg cell, not the father’s sperm cell, at conception. (Research suggests that sperm mitochondria are eliminated by the egg cell.) Mutations can exist in some of the mitochondria in a person’s cells and never cause much, if any, trouble. (In fact, one theory of aging says that it’s caused by an accumulation of mutat
