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More than 150 pathogenic mitochondrial DNA (mtDNA) mutations associated with a range of illnesses have been described in humans. These mutations are carried by one in 400 people and their inheritance is exclusively maternal. Currently there is no method to prevent mtDNA diseases, which highlights the need for strategies to predict their transmission. Here we outline the scientific background and unique difficulties in understanding the transmission of mtDNA diseases, explaining why their management has lagged so far behind the genetics revolution. Moreover, both current and future management options, including cytoplasmic and nuclear transfer, are also discussed.

Original publication

DOI

10.1016/j.mito.2010.11.004

Type

Journal article

Journal

Mitochondrion

Publication Date

09/2011

Volume

11

Pages

820 - 828

Keywords

Animals, Cytoplasm, DNA, Mitochondrial, Heredity, Humans, Mitochondrial Diseases, Mutation, Nuclear Transfer Techniques, Preimplantation Diagnosis, Selection, Genetic