Perrault syndrome: Scientists link rare genetic hearing loss condition with infertility

A common link between Perrault syndrome and early menopause or infertility in women has been identified by a team of scientists in a study. Perrault syndrome, a rare genetic condition resulting in hearing loss in men and women.

The research conducted by the NHS Foundation Trust and the University of Manchester marked the revelation and they could revolutionize the diagnosis and treatment of people with parole syndrome. The study was then published in the American Journal of Human Genetics.

The study conducted by the researchers found that eight different genes can cause this same condition. Not only will this particular type of deaf family directly benefit from it, but it will also have far-reaching implications for a deeper understanding of the biological processes involved in hearing loss. The researchers said it would provide insights into more common forms of hearing loss.

However, as per researchers, the study on this particular topic has begun 10 years ago at Saint Mary’s Hospital, when a local family had Perrault syndrome. It was Bill Newman, Professor of Translational Genomic Medicine in The Manchester Centre for Genomic Medicine who led the research work on the topic. As a result, a novel gene was identified and they believe changes in that gene caused the condition.

The study couldn’t help to test the same process further with the same gene, so they considered other genes too. “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,” Newman said.

Read Also: Unique radio waves from the heart of the milky way baffle scientists: Report

He further said” earlier diagnosis in females help to find out the hearing loss related with their fertility so that they can make decisions about preserving their eggs before menopause, to allow reproduction options later in life. Babies with significant hearing loss will now be screened for changes in these genes so that we can identify earlier if they have Perrault syndrome. This has a potentially life-changing impact on families.”