Manchester breakthrough in deafness and ovarian failure syndrome

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 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 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 identify the new gene that provides new insight into our understanding of infertility problems and hearing loss.

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 genetic techniques researchers have now identified four genes that can cause this condition. The genes are all important in the energy bundles in cells called mitochondria.”


Notes for editors

For further information please contact:
Emma Smith
0161 701 2679 / 0782 514 2219

Lucy Prosser
0161 701 0260 / 0782 514 2219

The Manchester Biomedical Research Centre is a partnership between Central Manchester University Hospitals NHS Foundation Trust and The University of Manchester.

Central Manchester University Hospitals NHS Foundation Trust is a leading provider of specialist healthcare services in Manchester, treating more than a million patients every year. Its eight specialist hospitals (Manchester Royal Infirmary, Saint Mary’s Hospital, Royal Manchester Children’s Hospital, Manchester Royal Eye Hospital, University Dental Hospital of Manchester and Trafford Hospitals) are home to hundreds of world class clinicians and academic staff committed to finding patients the best care and treatments. (www.cmft.nhs.uk)