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Avons-nous percé le mystère de la globozoospermie ?

Have we unravelled the mystery of globozoospermia?

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Résumé

Si la première description de la globozoocéphalie date de 1971, il aura fallu plus de 35 ans pour identifier la première cause génétique (une altération du gène SPATA16), et cela malgré la création de nombreux modèles murins et la certitude d’une cause purement génétique à ce syndrome par l’observation de fratrie de patients atteints. Malgré l’identification récente de nouveaux gènes comme PICK1 et DPY19L2, la globozoocéphalie reste toujours un mystère. En effet, ce syndrome est probablement très polymorphe, comme le suggèrent les observations en microscopie électronique, et il est associé à un très mauvais taux de succès en assistance médicale à la procréation (AMP). Les prochaines études devront donc s’attacher à comprendre les mécanismes à l’origine de cette globozoocéphalie et à identifier des traitements pouvant contourner les déficits spermatiques majeurs associés à ce syndrome.

Abstract

Globozoocephaly was first described in 1971, and 35 years were necessary to identify the first genetic origin (SPATA16 mutation), despite the development of many mice models and the certainty of a genetic origin for this syndrome taking into account observations in many siblings. Despite the recent identification of the new genes PICK1 and DPY19L2, globozoocephaly is still a mystery. This syndrome is probably polymorphic, as suggested by electronic microscopic details, and it is associated with a poor success rate in assisted reproductive tehnology (ART). Further studies are needed to understand the mechanism leading to the globozoocephalia and to define new therapeutic approaches to turn around major spermatic defects associated with this syndrome.

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Correspondence to F. Vialard.

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Ferfouri, F., Merdassi, G. & Vialard, F. Avons-nous percé le mystère de la globozoospermie ?. Basic Clin. Androl. 21, 230–233 (2011) doi:10.1007/s12610-011-0149-9

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Mots clés

  • Globozoocéphalie
  • Génétique
  • Globozoospermie

Keywords

  • Globozoocephalia
  • Genetics
  • Globozoospermia