Titre :
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Preimplantation diagnosis of the NARP mitochondrial DNA mutation (abstract : congrès international de Myologie, 2005)
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contenu dans :
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Auteurs :
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Congrès international de myologie 2005 (International Congress of Myology 2005; 9-13 mai 2005; Nantes, France) ;
Steffann J ;
Gigarel N ;
Frydman N ;
Burlet P ;
Bonnefont JP ;
Ray P ;
Feyereisen E ;
Tachdjian G ;
Frydman R ;
Kerbrat V ;
Munnich A
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Type de document :
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Article
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Année de publication :
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2005
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Pages :
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p. 183
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Langues:
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Anglais
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Mots-clés :
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ADN mitochondrial
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colloque
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diagnostic préimplantatoire
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grossesse
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hétérozygote
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mutation génétique
;
NARP
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Résumé :
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Communication n° 649 Preimplantation genetic diagnosis (PGD) for women carrying pathogenic mitochondrial DNA (mtDNA) mutations requires that the proportion of mutant mtDNA species diagnosed in the biopsied cells of the embryo (blastomeres) be an accurate indication of the mutant load in the remaining embryo. We have performed PGD for the neurogenic ataxia retinitis pigmentosa (NARP) mtDNA mutation (8993T>G) in the carrier mother of an affected child. Three embryos were analyzed, 1/3 embryo was carrying 100% of mutation mtDNA species and 2/3 embryos were mutation-free. The two mutation-free embryos were transferred and resulted in a normal pregnancy and in the birth of an healthy child. This PGD, the first hitherto reported for a mtDNA mutation, illustrates the rapid mitotic segregation of mtDNA species in early human development and supports the view that markedly skewed mtDNA segregation results in either severe mutation load or in almost mutation-free individuals.
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