title: Difficulties and possible solutions in the genetic management of mtDNA disease in the preimplantation embryo.
abstract: Families who have had a child die of a severe, maternally inherited mitochondrial DNA (mtDNA) disease are usually desperate to avoid having further affected children. Here we discuss the problems of applying classical genetic management to mtDNA diseases (Poulton and Turnbull, 2000) and the biology underlying these problems. We explain why these disorders have lagged so far behind the genetics revolution. We then outline the directions in which management is likely to develop, including the use of preimplantation genetic diagnosis (PGD).
authors.affiliation: Nuffield Department of Obstetrics and Gynaecology, The Women's Center University of Oxford, Oxford OX3 9DU, United Kingdom.
authors.forename: J
authors.initials: J
authors.lastname: Poulton
authors.forename: P
authors.initials: P
authors.lastname: Oakeshott
authors.forename: S
authors.initials: S
authors.lastname: Kennedy
mesh_terms: D000818:Animals; D001755:Blastocyst / Q000378:metabolism*; D015193:Chorionic Villi Sampling; D004272:DNA, Mitochondrial / Q000235:genetics*; D004198:Disease Susceptibility; D006801:Humans; D028361:Mitochondrial Diseases / Q000175:diagnosis* / Q000235:genetics*
chemical_list: D004272:DNA, Mitochondrial