Article
Non-random mtDNA segregation patterns indicate a metastable heteroplasmic segregation unit in m.3243A>G cybrid cells.
PloS one - 1 Jan 2012
Raap Anton K, Jahangir Tafrechi Roshan S, van de Rijke Frans M, Pyle Angela, Wählby Carolina, Szuhai Karoly, Ravelli Raimond B G, de Coo René F M, Rajasimha Harsha K, Nilsson Mats, Chinnery Patrick F, Samuels David C, Janssen George M C
Abstract excerpt
Many pathogenic mitochondrial DNA mutations are heteroplasmic, with a mixture of mutated and wild-type mtDNA present within individual cells. The severity and extent of the clinical phenotype is largely due to the distribution of mutated molecules between cells in different tissues, but mechanisms underpinning segregation are not fully understood. To facilitate mtDNA segregation studies we developed assays that...
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