What is Mitochondrial Disease?

Q:  What is mitochondrial disease? — Jennifer Ladewi

Gail Brookshire, M.S.

Gail Brookshire, M.S.

A: Mitochondrial disorders are a group of conditions — not just one disease — that arise when something disrupts the work of  mitochondria (parts of all cells, except red blood cells, that convert energy from food breakdown to a type of energy that allows the cells towork).

Symptoms depend on which part of the body is affected, and vary in severity. Some are mild and occur later in life; others are more severe and can occur in early childhood. They include muscle weakness, vision or hearing problems, or other neurological issues.

These disorders are caused by mutations in genetic material in the mitochondria themselves or in nuclear DNA. Therefore, they can be seen in more than one family member.

– Gail Brookshire, M.S., a genetic counselor at Children’s

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