Neurological mitochondrial diseases

Abstract

Mitochondrial disease (MD) is a group of metabolic disorders, caused by mitochondrial DNA or nuclear DNA mutations. With the development of research in mitochondrial medicine, the phenotypic spectrum of MD has expanded significantly. The common phenotypes in Chinese population included mitochondrial encephalopathy with lactic acidosis and stroke like episodes, Leigh syndrome, Leber hereditary optic neuropathy and chronic progressive external ophthalmoplegia. The rare phenotype included myoclonic epilepsy with ragged-red fibers, Kearns-Sayre syndrome, sensory ataxic neuropathy, mitochondrial neurogastrointestinal encephalomyopathy, Alpers disease, limb girdle mitochondrial myopathy, neuropathy with ataxia and retinitis pigmentosa. However, considerable clinical variability exists and some individuals do not fit into the known disease category. The revolution in genetic technologies has dramatically improved the diagnosis strategy of MD. In this article the pathology, clinical symptoms, laboratory findings and therapy in MD are sumarrized so as to provide guidance for clinical practice. Key words: Mitochondria; Mitochondrial diseases; Genes, mitochondrial