A major breakthrough in the understanding of infertility problems and inherited deafness was announced by Manchester researchers last week – after they discovered a previously unknown gene.
The gene was identified by a team from Manchester Biomedical Research Centre at Saint Mary’s Hospital and the University of Manchester.
It is linked to the rare disorder Perrault syndrome – an inherited form of deafness.
The team – lead by Dr Bill Newman in the Centre for Genetic Medicine – worked with colleagues from major research centres in the United States and Pakistan to make the breakthrough.
Dr Newman said: “We started the project in 2005 so it’s been a long time in finally trying to come up with part of the answer.
“The gene we’ve identified accounts for some of the cases of the condition but not all of them, but it’s a step in the right direction.”
Using a powerful new genetic technique called next generation sequencing, they were able to find the responsible gene called CLPP.
They then established a link between changes in the gene and the incidence of Perrault syndrome in some families.
Perrault syndrome can be particularly distressing for women, as they often require hormone treatment and are unable to conceive naturally due to ovarian failure.
Some patients can also have problems with their nerves, which can affect their balance and lead to difficulty with walking.
The findings have been published in a major journal, the American Journal of Human Genetics.
Emma Jenkinson, a PhD student who worked on the project at the university, said: “Although the syndrome was first described in 1951 by a French doctor called Perrault, understanding the cause has eluded scientists for over 50 years.
“With the availability of new genetic techniques researchers have now identified four genes that can cause this condition.”
Dr Newman said he was interested to find out if the new gene was not just related to Perrault syndrome and whether there were links with the unknown causes of infertility.
He added: “We think there are going to be other genes that are in other families and patients with the condition.
“We now know about these first four, and that will give us a better clue as to where to find the next genes.”
Picture courtesy of machine project, with thanks.
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