Journal
MITOCHONDRION
Volume 11, Issue 5, Pages 820-828Publisher
ELSEVIER SCI LTD
DOI: 10.1016/j.mito.2010.11.004
Keywords
Mitochondria; Mitochondrial disease; mtDNA; Pre-implantation genetic diagnosis; Cytoplasmic transfer; Nuclear transfer
Categories
Funding
- Fundacao de Amparo a Pesquisa do Estado de Sao Paulo (FAPESP), Brazil
- Wellcome Trust
- MRC
- Angus Memorial Mitochondrial Fund
- Oxford Partnership Comprehensive Biomedical Research Centre
- Department of Health's NIHR Biomedical Research Centres
- Medical Research Council [G0500695] Funding Source: researchfish
- MRC [G0500695] Funding Source: UKRI
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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. (C) 2010 Elsevier B.V. and Mitochondria Research Society. All rights reserved.
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