释义 |
mitochondrial disease
mitochondrial diseasen. Any of various diseases caused by malfunctioning of mitochondria as a result of inherited or acquired mutations in mitochondrial or nuclear DNA, typically affecting several organ systems, especially the nervous and muscular systems.mitochondrial disease
mitochondrial diseasen. Any of various diseases caused by malfunctioning of mitochondria as a result of inherited or acquired mutations in mitochondrial or nuclear DNA, typically affecting several organ systems, especially the nervous and muscular systems.mitochondrial disease Any clinically heterogeneous multisystem disease characterized by defects of brain–mitochondrial encephalopathies and/or muscle–mitochondrial myopathies due to alterations in the protein complexes of the electron transport chain of oxidative phosphorylation; MDs include Alper syndrome, Leber's hereditary optic neuropathy, Lowe syndrome, Luft syndrome, Menke's kinky hair syndrome, Zellweger syndrome, MELAS, MERRF, mitochondrial myopathy, rhizomelic chondrodysplasia punctata, and stroke-like episodes. See MELAS, MERRF. Mitochondrial diseases Group 1 Progressive external ophthalmoplegias • Kearns-Sayre disease Ophthalmoplegia plus syndrome • Ocular myopathy • Leber's hereditary optic neuropathy–due to a point mutation Group 2 Mitochondrial encephalomyopathies • Mitochondrial encephalomyopathy with lactic acidosis and stroke-like episodes • Myoclonus epilepsy with ragged red fibers • Leigh syndrome Group 3 Undefined mitochondrial encephalomyopathies, eg congenital lactic acidosis Group 4 Mitochondrial myopathies • Luft syndrome • Enzyme defects, eg ATPase, cytochrome oxidase mitochondrial disease (mī″tō-kŏn′drē-ăl) Any of hundreds of congenital illnesses that result from mutations in the DNA of mitochondria. Mitochondrial diseases are transmitted from mother to child. |