mitochondrial disease

(redirected from Mitochondrial encephalomyopathies)
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mitochondrial disease

n.
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.
References in periodicals archive ?
One randomized, double-blind clinical trial that used a combination of creatine monohydrate, coenzyme Q10, and alpha-lipoic acid lowered markers of oxidative stress in people with mitochondrial cytopathies while creatine monohydrate used alone in patients with mitochondrial encephalomyopathies enhanced aerobic oxidative function of the mitochondria.
Effectiveness of creatine monohydrate in mitochondrial encephalomyopathies.
While childhood-onset mitochondrial encephalomyopathies are usually severe, relentlessly progressive conditions with fatal outcome, this syndrome stands out by showing complete (or almost complete) spontaneous recovery.
Studies on mitochondrial oxidative phosphorylation in permeabilized human skin fibroblasts: application to mitochondrial encephalomyopathies.
Leu(UUR)] gene associated with MELAS subgroup of mitochondrial encephalomyopathies.
It may also help reverse side effects associated with cholesterol-lowering "statin" drugs, and it has potential use in muscular dystrophy, AIDS, hypertension, and mitochondrial encephalomyopathies, as well as other conditions.
In addition to the classic mitochondrial encephalomyopathies such as MELAS, the A3243G mtDNA mutation has been shown to be involved type II diabetes mellitus (DM) and aging (5).
Apoptosis in mitochondrial encephalomyopathies with mitochondrial DNA mutations: a potential pathogenic mechanism.
Consistent with this, diabetic symptoms are common features observed in various types of mitochondrial encephalomyopathies, including mitochondrial encephalomyopathy with lactic acidosis and stroke-like episodes (MELAS) (1, 2).
Leu(UUR)] gene associated with the MELAS subgroup of mitochondrial encephalomyopathies.
LEU(UUR)] gene association with the MELAS subgroup of mitochondrial encephalomyopathies.

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