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Spermatozoa losing speed

12 Apr 2013 - 9h41 | By INSERM PRESS OFFICE | Genetics, genomics and bioinformatics

Infertility affects between 7% and 12% of couples worldwide. The causes of male infertility include several defects of the sperm including asthenozoospermia. This is a deficiency in the motility of spermatozoa, an essential ingredient for an encounter between the sexual cells during reproduction. Asthenozoospermia, detected in more than 40% of infertile men, is often associated with low sperm production during male ejaculation and morphological anomalies (which are known as  oligoasthenoteratozoospermia [1]).

The research group headed by Dr Aminata Touré of the Inserm team 1016 “Genomics, epigenetis and physiopathology of reproduction” of the Cochin Institute (INSERM / CNRS / Université Paris Descartes) studied the genetic component of this condition, one about which little is known despite the strong prevalence associated therewith.

In this study published in The American Journal of Human Genetics, the researchers showed that for several subjects, in an initial cohort of 146 patients presenting with asthenozoospermia, there were deleterious mutations of the SLC26A8 gene.

This gene code is for a transporter exclusively expressed in the spermatozoa. The mutations identified produce functional alterations in the transporter involved in the regulation of the interaction between spermatozoa and the external environment. A change in such interaction prevents the spermatozoa from moving correctly towards the ovule in the female genital tract. Very few genes have so far been identified that are capable of playing a decisive role in sperm mobility and its activation.

“Our work opens up the prospect of better knowledge of the genetic causes of human asthenozoospermia”, explains Aminata Touré, head of research and manager of the study. “This will eventually make it possible to offer genetic counselling for couples seeking help with infertility and wanting to have children through Medically Assisted Procreation (MAP) techniques,” she concluded.

Fecondation

Photo de une : ©Fotolia

[1] From oligo = few    astheno = not very mobile and  terato=  with atypical forms

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Inserm press room Spermatozoa losing speed Link : http://presse.inserm.fr/en/spermatozoa-losing-speed/7808/
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Researcher Contact

Aminata Touré, PhD

Chargée de Recherche CNRS
INSERM U1016 – INSTITUT COCHIN (Inserm / CNRS / Université Paris Descartes) Equipe Génomique, Epigénétique et Physiopathologie de la Reproduction 24 rue du Faubourg Saint-Jacques.
75014 Paris. FRANCE
01 44 41 24 61
aminata.toure@inserm.fr

Sources

Missense Mutations in SLC26A8, Encoding a Sperm-Specific Activator of CFTR, Are associated with Human asthenozoospermia
Thassadite Dirami,1,2,3,10 Baptiste Rode,1,2,3,10 Mathilde Jollivet,4 Nathalie Da Silva,1,2,3 Denise Escalier,5 Natacha Gaitch,6 Caroline Norez,4 Pierre Tuffery,7 Jean-Philippe Wolf,1,2,3,8 Frédéric Becq,4 Pierre F Ray,9 Emmanuel Dulioust,8 Gérard Gacon,1,2,3 Thierry Bienvenu,1,2,3,6 and Aminata Touré1,2,3

1 Institut National de la Santé et de la Recherche Médicale U1016, Institut Cochin, 75014 Paris, France
2 Centre National de la Recherche Scientifique UMR 8104, 75014 Paris, France
3 Université Paris Descartes, Sorbonne Paris Cité, 75014 Paris, France
4 Institut de Physiologie et Biologie Cellulaires, Centre National de la Recherche Scientifique FRE 3 511, Université de Poitiers, 86022 Poitiers, France
5 Institut National de la Santé et de la Recherche Médicale UMR S933, Hôpital Armand Trousseau, 7 5012 Paris, France
6 Laboratoire de Biochimie et Génétique Moléculaire, Groupe Hospitalier Cochin Broca Hôtel Dieu, Assistance Publique-Hôpitaux de Paris, 75014 Paris, France
7 Institut National de la Santé et de la Recherche Médicale UMR S973, Université Paris Diderot, Sorbonne Paris Cité, 75205 Paris cedex 13, France
8 Service d’Histologie Embryologie et de Biologie de la Reproduction, Groupe Hospitalier Cochin Broca Hôtel Dieu, Assistance Publique-Hôpitaux de Paris, 75014 Paris, France
9 Equipe “Génétique, Infertilité, et Thérapeutiques,” Laboratoire d’Andrologie, Gérontechnologie, Inflammation, et Modélisation, Centre National de la Recherche Scientifique FRE 3405, Université Joseph Fourier, 38043 Grenoble, France
10 These authors contributed equally to this work

The American Journal of Human Genetics, 11 avril 2013

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