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Caractérisation de nouveaux gènes de l'infertilité masculine par NGS

. © Inra
Publié le 20/09/2016
Mots-clés : CONFÉRENCES
. © Inra
© Inra

Christophe Arnoult, PhD, DVM, DR CNRS

Equipe "Génétique, Epigénétique et Thérapies de l'Infertilité"
Institut pour l'Avancée des Biosciences (IAB), INSERM 1209, CNRS UMR 5309
Université Grenoble Alpes, Grenoble, FRANCE

Vendredi 7 octobre 2016 à 14h00
Centre de Jouy-en-Josas
Salle de réunion 271 du bâtiment 230

Invité par Hélène KIEFER UMR1198 Biologie du Développement et Reproduction

Résumé

Genes involved in human infertility revealed by new generation sequencing
The World Health Organization estimates that 50 million couples worldwide are confronted with infertility. Assisted reproduction technologies (ART) initiated 35 years ago by Nobel Prize winner Robert Edwards have revolutionized the practice of reproductive medicine and it is now estimated that approximately 15% of couples in western countries seek assistance from reproductive clinics for infertility or subfertility. Despite technological breakthroughs and advances, approximately half of the couples concerned still fail to achieve a successful pregnancy even after repeated treatment cycles. A genetic causes of infertility is involved in most of couples facing treatment failure.  It therefore becomes manifest that alternative treatment strategies should be envisaged for ART failures. Effective treatment can be best achieved through the realization of an accurate diagnosis and characterization of the molecular pathogeny. The development of efficient and cheap “new generation sequencing” in the past years enabled us to analyse the sequence of around two hundred infertile males. This work, still in progress, allowed to identify several genes involved in meiosis (AURKC), in spermiogenesis (DPY19L2, DNAH1) or in sperm function (PLCZeta). The laboratory deciphered the molecular pathogeny of these gene-dependent infertilities in order to improve patient counselling and identify new therapeutic approaches. Moreover, this study allowed to identify new actors and unravel unknown mechanisms of spermatogenesis.