Genetic male infertility and mutation of CATSPER ion channels

Michael S Hildebrand; Matthew R Avenarius; Marc Fellous; Yuzhou Zhang; Nicole C Meyer; Jana Auer; Catherine Serres; Kimia Kahrizi; Hossein Najmabadi; Jacques S Beckmann; Richard J H Smith

doi:10.1038/ejhg.2010.108

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Genetic male infertility and mutation of CATSPER ion channels

Journal article

Open access

Peer reviewed

Genetic male infertility and mutation of CATSPER ion channels

Michael S Hildebrand, Matthew R Avenarius, Marc Fellous, Yuzhou Zhang, Nicole C Meyer, Jana Auer, Catherine Serres, Kimia Kahrizi, Hossein Najmabadi, Jacques S Beckmann, …

European journal of human genetics : EJHG, Vol.18(11), pp.1178-1184

11/2010

DOI: 10.1038/ejhg.2010.108

PMCID: PMC2987470

PMID: 20648059

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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.

Genetic Predisposition to Disease

Animals

Genetic Testing

Infertility, Male - genetics

Sperm Motility - genetics

Humans

Male

Mutation

Spermatozoa - metabolism

Calcium Channels - genetics

Infertility, Male - diagnosis

Details

Title: Subtitle: Genetic male infertility and mutation of CATSPER ion channels
Creators: Michael S Hildebrand - Department of Internal Medicine, University of Iowa, Iowa City, IA, USA
Matthew R Avenarius
Marc Fellous
Yuzhou Zhang
Nicole C Meyer
Jana Auer
Catherine Serres
Kimia Kahrizi
Hossein Najmabadi
Jacques S Beckmann
Richard J H Smith
Resource Type: Journal article
Publication Details: European journal of human genetics : EJHG, Vol.18(11), pp.1178-1184
DOI: 10.1038/ejhg.2010.108
PMID: 20648059
PMCID: PMC2987470
NLM abbreviation: Eur J Hum Genet
ISSN: 1476-5438
eISSN: 1476-5438
Publisher: England
Grant note: R01 DC02842 / NIDCD NIH HHS R01 DC003544 / NIDCD NIH HHS R01 DC002842 / NIDCD NIH HHS R01 DC03544 / NIDCD NIH HHS R01 DK074409 / NIDDK NIH HHS
Language: English
Date published: 11/2010
Academic Unit: Roy J. Carver Department of Biomedical Engineering; Molecular Physiology and Biophysics; Anatomy and Cell Biology; Stead Family Department of Pediatrics; Iowa Neuroscience Institute; Otolaryngology; Internal Medicine
Record Identifier: 9984006460102771

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