Mitochondrial Disease News and Research

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Scientists discover reservoir of mitochondrial DNA mutations present in the general population

Researchers at the University of Newcastle, England, and the Virginia Bioinformatics Institute at Virginia Tech in the United States have revealed a large reservoir of mitochondrial DNA mutations present in the general population. Clinical analysis of blood samples from almost 3,000 infants born in north Cumbria, England, showed that at least 1 in 200 individuals in the general public harbor mitochondrial DNA mutations that may lead to disease.

11 Aug 2008

Some kids with autism may have a genetic defect that affects the muscles

...according to research that will be presented at the American Academy of Neurology 60th Anniversary Annual Meeting in Chicago, April 12-19, 2008.

13 Apr 2008

First identification of the genetic basis of disease in a patient with a complex I assembly defect

Mitochondrial complex I deficiency is one of the most common defects in patients with mitochondrial disease. The deficiency results from a failure to assemble the enzyme properly, but the nature of the molecular chaperones that are necessary for this process in mammals have remained obscure.

3 Oct 2005