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.
References in periodicals archive ?
Errington, of Demuris " Established in 2012 the WCMR is a dedicated to research with the aim of preventing and curing mitochondrial disease.
The third and final part of the study will evaluate repeated doses of KL1333 in mitochondrial disease patients, which will be the first time KL1333 is given to patients.
The newly-certified center is part of the Mitochondrial Care Network, formed by professional and patient advocacy groups includingthe Foundation for Mitochondrial Medicine, MitoAction, the United Mitochondrial Disease Foundation and the Mitochondrial Medicine Society.
The young woman from Brighouse was just 21 when she discovered she had a type of progressive mitochondrial disease, a genetic disorder that affects cell function.
He took to the stage, all in aid of the Lily Foundation, a charity that helps improve the lives of children with Mitochondrial disease, a serious genetic condition which can prove fatal.
The big-hearted comic raised [euro]40,000 for The Lily Foundation - set up to support children with mitochondrial disease - through charity screenings of new episodes of his huge TV series Car Share.
The charity which Kay previously described as "an inspiring charity" treats children with mitochondrial disease.
More than half of the reported mtDNA mutations are located in a tRNA gene; thus, mitochondrial tRNA genes are hot spots for mitochondrial disease [2, 4, 5].
We subsequently used this range to evaluate mtDNA content in four patients (0.5-4.0 years) with molecularly proven mitochondrial depletion syndromes (MDSs) and 83 cases of mitochondrial disease patients harboring the m.3243A>G mutation.
Taylor, from West Denton, was dubbed the 'mystery boy' when he started showing symptoms of devastating mitochondrial disease, which is passed onto a child if both parents carry the mutated genes.
However, it was not until 1998 that the concept of autism as a mitochondrial disease was first proposed [13].
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