Journal
MITOCHONDRION
Volume 11, Issue 4, Pages 626-629Publisher
ELSEVIER SCI LTD
DOI: 10.1016/j.mito.2011.03.123
Keywords
mtDNA; heteroplasmy; PCR-RFLP; Mutation load; Polar body analysis
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Funding
- Institute for the Promotion of Innovation through Science and Technology in Flanders (IWT-Vlaanderen)
- Fund for Scientific Research in Flanders (FWO-Vlaanderen)
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Diseases associated with point mutations in the mitochondrial DNA (mtDNA) are maternally inherited. We evaluated whether pre-implantation genetic diagnosis, based on polar body mutation load detection could be used to distinguish healthy from affected oocytes. Restriction Fragment Length Polymorphism (RFLP) analysis was used and validated, to determine A3243G tRNA(Leu(UUR)) mutation load in metaphase II oocytes and their respective first polar bodies. The results of this study show for the first time that the mutation load measured in the polar bodies correlates well with the mutation load in the respective oocytes. Therefore, human polar body analysis can be used as diagnostic tool to prevent transmission of mitochondrial disorders. (C) 2011 Elsevier B.V. and Mitochondria Research Society. All rights reserved.
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