Research breakthrough finds genes behind rare condition that causes hearing loss and infertility

The announcement, following a ten-year period of research led by Manchester University NHS Foundation Trust and The University of Manchester, comes with hopes that diagnosis and treatment for sufferers of this rare condition can be revolutionised, with babies with significant hearing loss being screened for Perrault.

Perrault affects both males and females, but the phenotype differs. In both sexes, sensorineural deafness occurs, but in females ovarian dysgenesis also occurs.

Professor Bill Newman, Consultant at Manchester University NHS Foundation Trust and leader of international collaboration on the project, said the discovery of the genes responsible could have a "potential life-changing impact for families".

“We know these genes are important in a part of the cell called the mitochondria, known as the energy bundles of the cell, we know that some tissues in our body are very susceptible to when the mitochondria don't work, and that's why we believe these hearing and ovarian problems occur," he affirmed.

Professor Newman added: “Understanding that many different genes and changes in them can cause the same condition helps us to think in terms of new specific treatments. Going forward, knowing that these genes are all linked together means that perhaps it would be possible to create a treatment that would work for all of them.”

Professor Ray O'Keefe, Professor of Molecular Genetics at the University of Manchester co-led the study, which was funded by organisations including, the National Institute for Health Research (NIHR), Manchester Biomedical Research Centre (BRC), Action Medical Research and the Royal National Institute for Deaf People (RNID).

The research is published in full in the American Journal of Human Genetics.

Source: The University of Manchester