Genetic male infertility and mutation of CATSPER ion channels.

Details

Serval ID
serval:BIB_3993406DE3FD
Type
Article: article from journal or magazin.
Publication sub-type
Review (review): journal as complete as possible of one specific subject, written based on exhaustive analyses from published work.
Collection
Publications
Institution
Title
Genetic male infertility and mutation of CATSPER ion channels.
Journal
European Journal of Human Genetics
Author(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]
Publication state
Published
Issued date
2010
Volume
18
Number
11
Pages
1178-1184
Language
english
Abstract
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.
Keywords
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
Yes
Create date
11/11/2010 10:50
Last modification date
20/08/2019 14:29
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