Mitochondrial DNA Disorders

2021-02-24 12:00 AM

Mitochondrial DNA codes for mitochondrial oxidative phosphorylation enzymes; inheritance is only from mother to child, because only the ovum contributes mitochondria to the zygote.

MITOCHONDRIAL DNA DISORDERS

Mitochondrial DNA codes for mitochondrial oxidative phosphorylation enzymes;inheritance is only from mother to child, because only the ovum contributes mitochondria to the zygote. Examples include:

  • Leber hereditary optic neuropathy causes loss of retinal cells, which leads tocentral vision loss.
  •  Myoclonic epilepsy with ragged red fibers (MERRF) is a mitochondrial disorder characterized by epilepsy, ataxia, peripheral neuropathy and deterioration in cognitive ability. Sensorineural hearing loss and ocular dysfunction can also develop. Patients have short stature and cardiomyopathy. On muscle biopsy, ragged red fibers are seen on Gomori trichrome staining due to the accumulation of mitochondria.