title: Therapeutic treatments of mtDNA diseases at the earliest stages of human development.
abstract: 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.
authors.affiliation: Nuffield Department of Obstetrics and Gynaecology, University of Oxford, Oxford OX3 9DU, United Kingdom. chiarattimr@gmail.com
authors.forename: Marcos Roberto
authors.initials: MR
authors.lastname: Chiaratti
authors.forename: Flávio Vieira
authors.initials: FV
authors.lastname: Meirelles
authors.forename: Dagan
authors.initials: D
authors.lastname: Wells
authors.forename: Joanna
authors.initials: J
authors.lastname: Poulton
mesh_terms: D000818:Animals; D003593:Cytoplasm / Q000637:transplantation; D004272:DNA, Mitochondrial / Q000235:genetics; D040941:Heredity; D006801:Humans; D028361:Mitochondrial Diseases / Q000175:diagnosis / Q000196:embryology / Q000235:genetics* / Q000628:therapy*; D009154:Mutation; D053652:Nuclear Transfer Techniques; D019836:Preimplantation Diagnosis; D012641:Selection, Genetic
chemical_list: D004272:DNA, Mitochondrial