Genetic male infertility and mutation of CATSPER ion channels.

Détails

ID Serval
serval:BIB_3993406DE3FD
Type
Article: article d'un périodique ou d'un magazine.
Sous-type
Synthèse (review): revue aussi complète que possible des connaissances sur un sujet, rédigée à partir de l'analyse exhaustive des travaux publiés.
Collection
Publications
Institution
Titre
Genetic male infertility and mutation of CATSPER ion channels.
Périodique
European Journal of Human Genetics
Auteur(s)
Hildebrand M.S., Avenarius M.R., Fellous M., Zhang Y., Meyer N.C., Auer J., Serres C., Kahrizi K., Najmabadi H., Beckmann J.S., Smith R.J.
ISSN
1476-5438[electronic], 1018-4813[linking]
Statut éditorial
Publié
Date de publication
2010
Volume
18
Numéro
11
Pages
1178-1184
Langue
anglais
Résumé
A clinically significant proportion of couples experience difficulty in conceiving a child. In about half of these cases male infertility is the cause and often genetic factors are involved. Despite advances in clinical diagnostics ∼50% of male infertility cases remain idiopathic. Based on this, further analysis of infertile males is required to identify new genetic factors involved in male infertility. This review focuses on cation channel of sperm (CATSPER)-related male infertility. It is based on PubMed literature searches using the keywords 'CATSPER', 'male infertility', 'male contraception', 'immunocontraception' and 'pharmacologic contraception' (publication dates from January 1979 to December 2009). Previously, contiguous gene deletions including the CATSPER2 gene implicated the sperm-specific CATSPER channel in syndromic male infertility (SMI). Recently, we identified insertion mutations of the CATSPER1 gene in families with recessively inherited nonsyndromic male infertility (NSMI). The CATSPER channel therefore represents a novel human male fertility factor. In this review we summarize the genetic and clinical data showing the role of CATSPER mutation in human forms of NSMI and SMI. In addition, we discuss clinical management and therapeutic options for these patients. Finally, we describe how the CATSPER channel could be used as a target for development of a male contraceptive.
Mots-clé
CatSper, male infertility, sperm motility, contraception, intracytoplasmic sperm injection, male-fertility, hyperactivated motility, postnatal-development, male contraception, human-spermatozoa, fibrous sheath, mouse testis, follow-up, deafness
Pubmed
Web of science
Open Access
Oui
Création de la notice
11/11/2010 10:50
Dernière modification de la notice
20/08/2019 14:29
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