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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).

Original publication

DOI

10.1016/S0070-2153(06)77008-9

Type

Journal article

Journal

Curr Top Dev Biol

Publication Date

2007

Volume

77

Pages

213 - 225

Keywords

Animals, Blastocyst, Chorionic Villi Sampling, DNA, Mitochondrial, Disease Susceptibility, Humans, Mitochondrial Diseases