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 ?
14],[15],[16] Thus, the normal reference interval of mtDNA copy number in peripheral blood is of great clinical significance in diagnosis and monitoring of mitochondrial disease and other disorders.
Mitochondrial disease kills an estimated 150 children every year, and if advancements like this can stop children dying, there is no need for mass panic that about opening the door to bespoke babies.
It was later revealed the twoyear-old was suffering from another genetic condition which mimics mitochondrial disease and after receiving treatment he is once again healthy.
The NVP015 project has the potential to significantly improve the lives of patients, usually children, suffering from this type of mitochondrial disease.
More research is needed to determine how high the risk of resurgence is, says Philip Yeske, the science officer for the United Mitochondrial Disease Foundation in Pittsburgh.
Each cell can contain 100,000 of them altogether and almost all children with mitochondrial disease have a mixture of normal and faulty mitochondria in their cells.
To stimulate dialogue on the status of mitochondrial disease diagnosis and research in SA, a workshop was convened in Potchefstroom, North West Province, in November 2014 that enabled a small group of local scientists and clinicians to engage with colleagues from the UK on this subject.
This rare condition is an inherited mitochondrial disease which if untreated usually leads to rapid, profound and permanent blindness in otherwise healthy patients.
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.

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