title: Polar body mutation load analysis in a patient with A3243G tRNALeu(UUR) point mutation.
abstract: 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.
authors.affiliation: Laboratory for Pharmaceutical Biotechnology, Faculty of Pharmaceutical Sciences, Ghent University, Harelbekestraat 72, 9000 Ghent, Belgium. mado.vandewoestyne@ugent.be
authors.forename: Mado
authors.initials: M
authors.lastname: Vandewoestyne
authors.forename: Björn
authors.initials: B
authors.lastname: Heindryckx
authors.forename: Trees
authors.initials: T
authors.lastname: Lepez
authors.forename: Rudy
authors.initials: R
authors.lastname: Van Coster
authors.forename: Jan
authors.initials: J
authors.lastname: Gerris
authors.forename: Petra
authors.initials: P
authors.lastname: De Sutter
authors.forename: Dieter
authors.initials: D
authors.lastname: Deforce
mesh_terms: D004252:DNA Mutational Analysis / Q000379:methods*; D005260:Female; D006801:Humans; D007963:Leukocytes, Mononuclear / Q000166:cytology; D008677:Metaphase; D028361:Mitochondrial Diseases / Q000235:genetics*; D009865:Oocytes / Q000166:cytology; D017354:Point Mutation; D012150:Polymorphism, Restriction Fragment Length; D012313:RNA; D000077278:RNA, Mitochondrial; D012356:RNA, Transfer, Leu / Q000235:genetics*
chemical_list: D000077278:RNA, Mitochondrial; D012356:RNA, Transfer, Leu; D012313:RNA