The journey to conception is a long, difficult road...
Australians find infertility gene
By Janelle Miles
29mar05
AUSTRALIAN researchers are testing men for variations of a gene thought to be responsible for some
male infertility.
The researchers believe their work may also go some way towards explaining suggestions of an
increase in genetic disorders among children born from assisted reproductive technologies such as
IVF.
The scientists have found switching off the gene known as Dnmt3L renders male mice infertile.
US researchers have previously discovered an absence of the same gene causes early miscarriages in
female mice.
Male fertility expert Moira O'Bryan of the Monash Institute of Medical Research in Melbourne said
Dnmt3L produced a protein that acted as a computer program telling DNA when to switch on and off.
"In the mouse we made, this had been mucked up and the mice were infertile," she explained.
Other researchers have found a slight increase in diseases among IVF children caused by genes turned
on at the wrong time.
Scientists from Monash and the Walter and Eliza Hall Institute have started taking DNA samples from
fertile and infertile men to compare them for possible variations in their Dnmt3L genes.
"We need to do more tests to see if it does occur with human men, what the incidence of it is, and is
there a way to bypass it," Dr O'Bryan said.
"For example, could some of the treatments we're doing be improved to decrease the chances of
sperm that have this problem making children?
"Or should we be looking at screening embryos before they're put back into the mother to minimise
the chances of things going wrong with the child?
"At a minimum, should we be watching the children to see if things are going wrong so we can treat
them early?"
About one in 25 Australian men have a fertility problem.
The most common known genetic cause is deletions on the Y chromosome, but the reason remains
unknown in many cases.
Dr O'Bryan believes finding the causes will allow couples to make more informed decisions when
choosing assisted reproductive technologies.
"Men diagnosed as having this problem may select to use donor sperm rather than risk passing the
genetic disorder onto their offspring," she said.
The study, which also had input from scientists at the University of Queensland, Prince Henry's
Institute of Medical Research, the Murdoch Children's Research Institute and overseas researchers,
will be published in the April 15 edition of the US-based journal, Proceedings of the National Academy
of Sciences.