Article
Modulating mitochondrial quality in disease transmission: towards enabling mitochondrial DNA disease carriers to have healthy children.
Biochemical Society transactions - 15 Aug 2016
Diot Alan, Dombi Eszter, Lodge Tiffany, Liao Chunyan, Morten Karl, Carver Janet, Wells Dagan, Child Tim, Johnston Iain G, Williams Suzannah, Poulton Joanna
Abstract excerpt
One in 400 people has a maternally inherited mutation in mtDNA potentially causing incurable disease. In so-called heteroplasmic disease, mutant and normal mtDNA co-exist in the cells of carrier women. Disease severity depends on the proportion of inherited abnormal mtDNA molecules. Families who have had a child die of severe, maternally inherited mtDNA disease need reliable information on the risk of recurrence...
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