How are Mitochondrial Disorders Inherited?

Mitochondrial disorders are complex diseases that are due to defects in genes encoding for the respiratory chain. These genes are located not only in the maternally-inherited mitochondrial genome (mtDNA), but also in the nuclear genome as the majority of proteins that are important for respiratory chain function are encoded by nuclear DNA and subsequently imported into mitochondria. Thus, in addition to a maternal mode of inheritance, autosomal recessive and dominant traits are apparent while some cases are sporadic. Mitochondrial disorders encompass a wide spectrum of clinical presentations commonly affecting t…