Gene Discovery and Functional Studies to Reveal Mechanisms Underlying Mitochondrial Respiratory Chain Disorders.

线粒体呼吸链疾病是一种毁灭性的疾病，可能影响身体的任何器官，目前尚无有效的治疗方法。这些疾病大多在儿童时期发病，其中大多数的遗传基础尚不清楚。识别特定家庭中导致这些疾病的基因将大大提高遗传咨询的准确性和实用性，对其生物学的理解可能有助于开发有效的治疗方法。

Mitochondrial respiratory chain disorders are a devastating group of disorders, potentially affecting any organ of the body, with no effective therapies currently available. The majority of these disorders have a childhood onset and the genetic basis for most of them is unknown. Identification of the genes responsible for these disorders in specific families would greatly improve the accuracy and usefulness of genetic counselling, and an understanding of their biology may assist the development of effective therapies.