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 ?
Mitochondrial diseases are passed on by the mother and the new technique would reduce the risk of transmission of these lifelimiting disorders.
The couple have now started a petition to get the Government to fund research into genetic mitochondrial diseases.
By their effects on these areas, mitochondrial diseases can cause certain forms of blindness, deafness, dementia, movement disorders, epilepsies, seizures, heart disease, muscle disease, diabetes and kidney problems.
Based on encouraging preclinical and early clinical data, the company is investigating its lead product candidate, elamipretide, in three primary mitochondrial diseases: PMM, Barth syndrome, and Leber's hereditary optic neuropathy, as well as in heart failure and dry age-related macular degeneration.
Diagnosing mitochondrial disease Mitochondrial diseases are genetic conditions affecting the batteries of the cell, with around one in 4,300 affected children born every year.
Sharon Bernardi, right, who inspired the research into mitochondrial disease after her son Edward, centre, <Bdied from the condition.
Robert Meadowcroft, chief executive of the Muscular Dystrophy Campaign, which helps people suffering from mitochondrial diseases, said: "The news is an important milestone for families affected by mitochondrial disease.
A spokesman for the Human Fertilisation and Embryology Authority said in a statement, 'The HFEA has today granted a licence to the Newcastle Fertility Centre at LIFE for the use of embryos for research into mitochondrial disease.
Mitochondrial diseases have taught us that unless the cause for a common disease is known with confidence, the diagnosis is never really established.
Providing scientists a fast and simple method to detect single-nucleotide polymorphisms (SNPs), these assays distinguish mutations that may play a role in mitochondrial disease.
Presentations will be made by members of NeuroVive's management and board as well as by external authorities in genetic mitochondrial diseases. The program includes an overview of the company's operations and strategy with deeper descriptions of the key projects, the company's external collaborations and the regulatory path towards market approval.
AMEDICAL research company has partnered with Newcastle University to develop new ways to treat mitochondrial diseases, such as diabetes and heart disease.

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