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Clue to male infertility found

2011-07-21 08:19:24

By Helen Briggs Health editor, BBC News website

As many as a quarter of men have a genetic change which makes them less fertile

than usual, research suggests.

The discovery could lead to a new screening test to identify those who will

take longer to father a child, experts report in the journal Science

Translational Medicine.

The change is in a gene that codes for a key protein found on the outside of

sperm.

Sperm lacking in the substance find it harder to swim to the egg.

Researchers believe a man with the altered gene can still get his partner

pregnant, but this will take longer than usual.

Dr Edward Hollox of the University of Leicester is a co-author of the study.

Start Quote

We understand little about the subtle molecular events which occur in sperm as

they make their journey through the woman's body to fertilise an egg

Dr Allan Pacey University of Sheffield

He told the BBC: "If you've got this gene variant you should allow that little

bit longer if your partner's planning to get pregnant.

"It takes two - it's the genetic variation in a man that affects fertility in

this particular case."

Molecular events

He said the discovery raised the possibility of a new test to identify couples

who might need fertility treatment.

"It's another tool in the toolkit of fertility treatment," he said.

The genetic change is in a gene called DEFB126, which codes for a protein that

clings to sperm, helping them swim through the woman's body to fertilise the

egg.

Abnormal sperm These sperm look normal but have more difficulty getting to the

egg

Researchers believe men with the defective gene have sperm that find it harder

to make their way through mucus, causing low fertility.

A study of more than 500 married couples in China found that women who had

partners with two copies of the defective gene (one from the mother and one

from the father) were less likely to get pregnant.

The women also took longer to get pregnant by a couple of months.

Further studies, carried out in people from the US, UK, China, Japan and

Africa, found the gene mutation is common around the world.

About half of all men carry one copy of the defective gene; while a quarter

have two defective copies.

Male infertility

Infertility affects around 10 to 15% of couples

About half of these cases involve problems in men

Most cases of male infertility are unexplained, driving the search to find new

tests and possible treatments

Commenting on the study, Dr Allan Pacey, Senior Lecturer in Andrology at the

University of Sheffield, said:

"We actually understand very little about the subtle molecular events which

occur in sperm as they make their journey through the woman's body to fertilise

an egg.

"We know even less about how a man's genes may contribute to how his sperm

work, in the absence of an obvious defect that we can see down the microscope.

"Therefore, this paper is an important step forward and makes a significant

contribution to our sperm-knowledge."