Article
Mutation dependance of the mitochondrial DNA copy number in the first stages of human embryogenesis.
Human molecular genetics - 1 May 2013
Monnot Sophie, Samuels David C, Hesters Laetitia, Frydman Nelly, Gigarel Nadine, Burlet Philippe, Kerbrat Violaine, Lamazou Frédéric, Frydman René, Benachi Alexandra, Feingold Josué, Rotig Agnes, Munnich Arnold, Bonnefont Jean-Paul, Steffann Julie
Abstract excerpt
Mitochondrial DNA (mtDNA) content is thought to remain stable over the preimplantation period of human embryogenesis that is, therefore, suggested to be entirely dependent on ooplasm mtDNA capital. We have explored the impact of two disease-causing mutations [m.3243A>G myopathy, encephalopathy, lactic acidosis and stroke-like syndrome (MELAS) and m.8344A>G myoclonic epilepsy associated with ragged-red fibers...
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