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 ?
AMEDICAL research company has partnered with Newcastle University to develop new ways to treat mitochondrial diseases, such as diabetes and heart disease.
Mitochondrial medicine company NeuroVive Pharmaceutical AB (STO:NVP) (OTCQX:NEVPF) announced on Thursday the initiation of the second part of its ongoing phase Ia/b clinical study with KL1333, NeuroVive's candidate drug for chronic treatment of genetic mitochondrial diseases.
For the first time in mitochondrial disease, we have used an 'adaptive design model', that will allow us to regularly modify the number of patients needed, as more information is collected.
Mitochondrial disease affects tiny structures within the cell, called mitochondria, that are often called the "powerhouses" of the cell.
Peter Kay comedian breaks Twitter silence as he announces charity event for mitochondrial disease
"It was shocking," Mitochondrial disease is an inherited chronic illness.
In footage of his brief appearance posted on Twitter, Kay, 44, told the audience: "Thank you very much for supporting the Lily Foundation raising money for mitochondrial disease. Very kind of you.
Chinnery, "Mitochondrial disease in adults: What's old and what's new?" EMBO Molecular Medicine, vol.
For clinical purposes, mtDNA depletion has been defined as a residual mtDNA copy number of <30% relative to age-matched controls.[13] However, the mtDNA content data obtained with different methodologies are not comparable between studies, and the age- and tissue-related controls are hardly available.[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.
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.
In other work, Shoffner and colleagues found deficits in skeletal muscle mitochondria complexes I, I + III, I + III + IV, and V in 28 children co-diagnosed with ASD and mitochondrial disease [22].

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