Breakthrough in deafness and ovarian failure syndrome

March 29, 2013
Manchester breakthrough in deafness and ovarian failure syndrome

(Medical Xpress)—Researchers from Manchester Biomedical Research Centre at Saint Mary's Hospital and the University of Manchester have identified a new gene, which increases our understanding of the rare inherited disorder Perrault syndrome.

Perrault syndrome is an inherited form of deafness that can be particularly distressing for women, as they often require 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 team lead by Dr Bill Newman in the Centre for worked with colleagues from major research centres in the United States and Pakistan, to identify the new gene that provides new insight into our understanding of infertility problems and .

Using a powerful new genetic technique called next generation sequencing, they were able to find the responsible gene called CLPP, and establish a link between changes in this gene and the incidence of Perrault syndrome in some families. The findings have been published in a major journal, the American Journal of Human Genetics.

"Although the syndrome was first described in 1951 by a French doctor called Perrault, understanding the cause has eluded scientists for over 50 years," explains Emma Jenkinson, who worked on the project as part of her PhD at the University of Manchester funded by the Infertility Research Trust. "With the availability of new researchers have now identified four genes that can cause this condition. The genes are all important in the energy bundles in cells called mitochondria."

Explore further: Deafness genetic mutation discovered

Related Stories

Deafness genetic mutation discovered

September 30, 2012

Researchers at the University of Cincinnati (UC) and Cincinnati Children's Hospital Medical Center have found a new genetic mutation responsible for deafness and hearing loss associated with Usher syndrome type 1.

Researchers find genetic key to preventing spine tumours

February 15, 2013

Genetic medicine experts from Manchester Biomedical Research Centre at Saint Mary's Hospital and The University of Manchester have identified a new gene responsible for causing an inherited form of tumour, known as spinal ...

Recommended for you

New target could eliminate lurking cancer stem cells

November 27, 2015

Scientists from Trinity College Dublin have identified a novel target that could help to identify 'cancer stem cells' while they are in their inactive state. The scientists could then jolt these cells into action so that ...

New class of RNA tumor suppressors identified

November 23, 2015

A pair of RNA molecules originally thought to be no more than cellular housekeepers are deleted in over a quarter of common human cancers, according to researchers at the Stanford University School of Medicine. Breast cancer ...

Batten disease may benefit from gene therapy

November 11, 2015

In a study of dogs, scientists showed that a new way to deliver replacement genes may be effective at slowing the development of childhood Batten disease, a rare and fatal neurological disorder. The key may be to inject viruses ...


Please sign in to add a comment. Registration is free, and takes less than a minute. Read more

Click here to reset your password.
Sign in to get notified via email when new comments are made.