mitochondrial disease

(redirected from Mitochondrial cytopathies)
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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 ?
Coenzyme Q10 improves mitochondrial respiration in patients with mitochondrial cytopathies. An in vivo study on brain and skeletal muscle by phosphorous magnetic resonance spectroscopy.
An in vivo study by 3IP-MR spectroscopy in patients with mitochondrial cytopathies. Bic:factors.
These cases represent over 60% of all IMDs diagnosed in this period and the majority fall into 3 main categories, namely the organic acidaemias (OAs), the urea cycle defects (UCDs) and the mitochondrial cytopathies. Not included in this series are those cases where encephalopathy may be secondary to failure of other organs such as hepatorenal failure in tyrosinaemia type 1 and galactosaemia, adrenal failure in adrenoleukodystrophy (X-ALD) or hypoglycaemia in glycogen storage disease type 1.
The mitochondrial cytopathies represent a diverse group of IMDs that typically involve organ systems with high aerobic energy requirements such as muscle and nervous tissue.
As with lactate screening, however, at the light microscopy level such proliferations may only reliably occur in the tRNA gene mutation mitochondrial cytopathies (ie, the "ragged red fibers" of MERRF).
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.
The mitochondrial cocktail: rationale for combined nutraceutical therapy in mitochondrial cytopathies. Adv Drug Deliv Rev.
Mitochondrial cytopathies are a diverse group of inherited and acquired disorders that result in inadequate energy production.
These effects could represent an important mechanism contributing to the benefits of supplemental Cr in those muscular diseases, where oxidative stress, mitochondrial impairment, and differentiative imbalance play a causative role, for example, muscular dystrophies, mitochondrial cytopathies, aging, disuse atrophy, and sarcopenia [6-8, 65].
Mitochondrial cytopathies (MC) are inherited mtDNA or nuclear DNA (nDNA) mutations in genes that affect mitochondrial functions.
(1.) Symptoms of mitochondrial cytopathies. United Mitochondrial Disease Foundation.

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