Subscribe to the BioNews newsletter for free

Login
Advanced Search

Search for
BioNews

Like the Progress Educational Trust on Facebook


The Fertility Show


 

Study finds gene linked to male infertility

04 October 2010

By Owen Clark

Appeared in BioNews 578

A study has shown that mutations in the NR5A1 gene may be responsible for many unexplained cases of male infertility.

The research team, led by scientists from the Pasteur Institute in Paris and Institute of Child Health in London, screened a group of 315 men who were unable to produce sperm, for mutations in the gene NR5A1.

The gene encodes for a protein that has a critical role in the development of the reproductive organs and in reproduction, and has previously been linked to problems with sexual development in both men and women.

The researchers found that seven of the effected individuals had mutations in this gene, while no mutations were found in a control group of 729 men who had normal sperm production.

Four of these men were also found to have altered levels of sex hormones, and another had testicular abnormalities, suggesting a link between the mutations and the problems with sperm production.

The study, published in the American Journal of Human Genetics, represents an important step in the search for genes that may be responsible for male infertility, which accounts for 30 to 50 percent of the fertility problems faced by couples trying to conceive.

The authors told the BBC: 'Approximately four percent of men with otherwise unexplained failure to produce sperm carry mutations in the NR5A1 gene'.

To date only a small number of genes have been linked to male infertility, with the majority of sperm production problems having no obvious cause.

Dr Allan Pacey, a fertility expert from Sheffield University said: 'Although this gene defect affects only a small number of men, we need more studies like this so we can fill in the gaps in our knowledge and possibly one day build a robust diagnostic test for male fertility based on genetics'.

SOURCES & REFERENCES
American Journal of Human Genetics | 30 September 2010
 
BBC News | 30 September 2010
 

RELATED ARTICLES FROM THE BIONEWS ARCHIVE

23 July 2012 - by Antony Blackburn-Starza 
Results of the first study to sequence the genomes of individual sperm cells obtained from one person have revealed significant genetic differences between them, confirming the belief that each sperm is unique. It is hoped the technique could be applied in fertility treatments to identify genetic mutations that may occur in the recombination process...
13 June 2011 - by Kyrillos Georgiadis 
A new fertility test for men which can detect DNA damage in sperm has been developed in the UK. The test, called SpermComet, could save couples undergoing fertility treatment both time and money, since it will allow clinics to fast-track patients to the most appropriate treatment, say its developers...
31 May 2011 - by Dr Caroline Hirst 
Researchers from Johns Hopkins University, USA, have found a link between female infertility and genetic variation in a gene regulating cholesterol uptake...
21 February 2011 - by Sujatha Jayakody 
A bone cell hormone can regulate male fertility hormone testosterone, a study on mice has found. Male mice engineered to produce little osteocalcin, a hormone released by bone cells called osteoblasts, had smaller litters and testes than unmodified mice...
15 November 2010 - by Seil Collins 
New preliminary research suggests a possible link between the use of mild painkillers during pregnancy and the birth of male children with congenital cryptorchidism, more commonly known as undescended testes, a condition which reduces male fertility. The rates of undescended testes seen in the study remained relatively low....

09 August 2010 - by Victoria Kay 
A chemical found in some common plastics may be linked to reduced fertility in men, according to a new report. A US study found that men with the highest levels of Bisphenol A (BPA) in their urine had a sperm count 23 per cent lower on average than those with the lowest BPA levels...
19 July 2010 - by Dr Marianne Kennedy 
A gene crucial for sperm production in humans is also needed to make sperm in many other animals including mice, sea urchins, flies and worms, scientists in Chicago, US, have discovered...
15 February 2010 - by Gozde Zorlu 
Boys conceived through IVF tend to have short fingers - a trait linked to infertility, say researchers in a study published in the journal of Reproductive Biomedicine Online...

HAVE YOUR SAY
Be the first to have your say.

You need to or  to add comments.

By posting a comment you agree to abide by the BioNews terms and conditions


- click here to enquire about using this story.

Published by the Progress Educational Trust

CROSSING FRONTIERS

Moving the Boundaries of Human Reproduction

Public Conference
London
8 December 2017

Speakers include

Professor Azim Surani

Professor Magdalena Zernicka-Goetz

Professor Robin Lovell-Badge

Sally Cheshire

Professor Guido Pennings

Katherine Littler

Professor Allan Pacey

Dr Sue Avery

Professor Richard Anderson

Dr Elizabeth Garner

Dr Jacques Cohen

Dr Anna Smajdor

Dr Andy Greenfield

Vivienne Parry

Dr Helen O'Neill

Dr César Palacios-González

Philippa Taylor

Fiona Fox

Sarah Norcross


BOOK HERE

Good Fundraising Code

Become a Friend of PET HERE and give the Progress Educational Trust a regular donation