Mitochondrial heteroplasmy profiling in single human oocytes by next-generation sequencing

Mitochondrial DNA (mtDNA) plays a key role in the development of a competent oocyte. Mutations of the mitochondrial genome lead to an altered energetic metabolism with negative effects on oocyte developmental competence. In this study, mtDNA heteroplasmy at an intra-oocyte level and between the diff...

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Detalles Bibliográficos
Autores principales: Ancora, Massimo, Orsini, Massimiliano, Colosimo, Alessia, Russo, Valentina, Marcacci, Maurilia, De Santo, Maria, D’Aurora, Marco, Stuppia, Liborio, Gatta, Valentina, Barboni, Barbara, Cammà, Cesare, Mattioli, Mauro
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Taylor & Francis 2017
Materias:
Mitogenome Announcement
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7800564/
https://www.ncbi.nlm.nih.gov/pubmed/33473893
http://dx.doi.org/10.1080/23802359.2017.1365634
Descripción
Sumario:Mitochondrial DNA (mtDNA) plays a key role in the development of a competent oocyte. Mutations of the mitochondrial genome lead to an altered energetic metabolism with negative effects on oocyte developmental competence. In this study, mtDNA heteroplasmy at an intra-oocyte level and between the different analyzed human oocytes (n = 12) was identified by a next-generation sequencing (NGS) protocol previously developed by this research group and submitted to GenBank. This method highlighted, in particular, variants in the genes involved in the respiratory chain providing a direct indication of the cell-specific damage within the mitochondrial genome as predictor of the oocyte quality.

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