mitochondrial disease


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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 ?
The Dubliner, who is back in his home town to promote his new film The Lobster, spent an afternoon with four families whose children have mitochondrial disease.
This rare condition is an inherited mitochondrial disease which if untreated usually leads to rapid, profound and permanent blindness in otherwise healthy patients.
at the Center for Embryonic Cell and Gene Therapy, and the Oregon National Primate Research Center, at the Oregon Health & Science University (OHSU) in Beaverton, OR, revealed a critical first step in developing a new gene and stem cell regenerative technique for treating patients with mitochondrial disease.
Coventry schoolboy Jack Smith was just 11 years old when he finally lost his long battle with Kearns-Sayres Syndrome, a rare mitochondrial disease.
Hirano, who is codirector of the North American Mitochondrial Disease Consortium.
In lieu of flowers, donations may be made to the Mitochondrial Disease Fund, United Mitochondrial Disease Foundation, 8085 Saltsburg Road, Suite 201, Pittsburgh, PA 15239.
Sharon Bernardi, from Sunderland, pictured with her |son Edward, whose death from mitochondrial disease inspired research into the condition
SHARON BERNARDI lost six children to mitochondrial disease within a few hours of them being born.
based United Mitochondrial Disease Foundation, the Australian Mitochondrial Disease Foundation, as well as other groups from France, Germany, Britain and Spain, described mitochondrial disease as "unimaginably cruel".
Britain will become the first country in the world to allow the procedure in law and Health Minister Jane Ellison told MPs the techniques offered the "only hope" for some women who carry the disease to have "healthy, geneticallyrelated children" who will not suffer from the "devastating and often fatal consequences" of mitochondrial disease.
It would end the heartache of people such as the parents of Lily Merritt, from Surrey, who died of mitochondrial disease in April 2007, aged eight months.
In an open letter to lawmakers, the US-based United Mitochondrial Disease Foundation, the Australian Mitochondrial Disease Foundation, as well as other groups from France, Germany, Britain and Spain, described mitochondrial disease as "unimaginably cruel".

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