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Mitochondrial disorders: Genetics, counseling, prenatal diagnosis and reproductive options

Lookup NU author(s): Professor Patrick Chinnery, Emeritus Professor Doug Turnbull


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Most patients with mitochondrial disorders are diagnosed by finding a respiratory chain enzyme defect or a mutation in the mitochondrial DNA (mtDNA). The provision of accurate genetic counseling and reproductive options to these families is complicated by the unique genetic features of mtDNA that distinguish it from Mendelian genetics. These include maternal inheritance, heteroplasmy, the threshold effect, the mitochondrial bottleneck, tissue variation, and selection. Although we still have much to learn about mtDNA genetics, it is now possible to provide useful guidance to families with an mtDNA mutation or a respiratory chain enzyme defect. We describe a range of current reproductive options that may be considered for prevention of transmission of mtDNA mutations, including the use of donor oocytes, prenatal diagnosis (by chorionic villus sampling or amniocentesis), and preimplantation genetic diagnosis, plus possible future options such as nuclear transfer and cytoplasmic transfer. For common mtDNA mutations associated with mitochondrial cytopathies (such as NARP, Leigh Disease, MELAS, MERRF, Leber's Hereditary Optic Neuropathy, CPEO, Kearns-Sayre syndrome, and Pearson syndrome), we summarize the available data on recurrence risk and discuss the relative advantages and disadvantages of reproductive options. © 2001 Wiley-Liss, Inc.

Publication metadata

Author(s): Chinnery PF, Turnbull DM

Publication type: Article

Publication status: Published

Journal: American Journal of Medical Genetics: Seminars in Medical Genetics

Year: 2001

Volume: 106

Issue: 1

Pages: 102-114

ISSN (print): 0148-7299

ISSN (electronic): 1552-4833

Publisher: John Wiley & Sons, Inc.


DOI: 10.1002/ajmg.1380

PubMed id: 11579429


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