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Mitochondrial DNA inheritance in patients with deleted mtDNA
  1. Lluis Quintana-Murcia,
  2. Agnes Rötigb,
  3. Arnold Munnichb,
  4. Pierre Rustinb,
  5. Thomas Bourgerona
  1. aUnité d'Immunogénétique Humaine, INSERM E021, Institut Pasteur, 25-28 rue Dr Roux, 75724 Paris Cedex 15, France, bUnité INSERM U393, Hôpital Necker Enfants-Malades, 149 rue de Sèvres, 75743 Paris Cedex 15, France
  1. Dr Bourgeron, thomasb{at}

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Editor—Mitochondrial diseases encompass a large group of clinical disorders resulting from numerous genotypes, with variable age of onset and all possible modes of heredity, which have been extensively studied over the past decade.1-3 So far, more than 50 point mutations and a significant number of complex rearrangements, including deletions and duplications, have been identified in mitochondrial DNA (mtDNA) of patients with oxidative phosphorylation diseases (MITOMAP4). In most cases, there is a cell to cell variable load of mutant to wild type (wt) mtDNA, a condition called heteroplasmy. The severity of the resulting mitochondrial defects depends not only on the nature of the mutation but also on the proportion of mutant to wild type mtDNA.

The origin and mechanism of the accumulation of mutant mtDNA (up to 99% in some tissues) in patients with mitochondrial diseases are still a matter of debate.5 Different hypotheses have been proposed. First, the mutant mtDNA may already be present in the mother's oocytes. Then, by simple genetic drift, mutant mtDNA could finally represent a high proportion of the total mtDNA in a specific organ or tissue. It has already been shown that a small amount of founder mtDNA can populate …

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