Article
Defining the importance of mitochondrial gene defects in maternally inherited diabetes by sequencing the entire mitochondrial genome.
Diabetes - 1 Jul 2002
Choo-Kang Alan T W, Lynn Stephen, Taylor Geoffrey A, Daly Mark E, Sihota Sarbpreet S, Wardell Teressa M, Chinnery Patrick F, Turnbull Douglass M, Walker Mark
Abstract excerpt
For any mitochondrial DNA (mtDNA) mutation, the ratio of mutant to wild-type mtDNA (% heteroplasmy) varies across tissues, with low levels in leukocytes and high levels in postmitotic tissues (e.g., skeletal muscle). Direct sequencing is the gold-standard method used to detect novel mutations, but can only reliably detect % heteroplasmy >25%, which is rare in leukocytes. Therefore, we investigated the role of...
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