Rare Genetic Hearing Loss Condition Linked With Infertility

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

The research led by the NHS Foundation Trust and The University of Manchester could revolutionize the diagnosis and treatment for people with Perrault syndrome.

‘Identifying the role of hearing loss in infertility will revolutionize the diagnosis and treatment for people with Perrault syndrome.’

The study, published in the American Journal of Human Genetics, revealed eight different genes that can cause this same condition.

This finding will not only benefit families with this specific type of hearing loss but also provide a deeper understanding of the biological processes involved in hearing. This understanding has wider implications that will provide insights into more common forms of hearing loss.

This research began 10 years ago at Saint Mary's Hospital when a local family had Perrault syndrome. After some genetic studies, doctors identified a novel gene and changes in that gene that caused the condition.

After sharing the discovery, researchers had requests from around the world to check if they had changes in this same gene. While they did not find the same changes in the genes as the Manchester family, it made them search for other genes.

Genes are important in a part of the cell called the mitochondria, known as the energy bundles of the cell. According to researchers, some tissues in our body are very susceptible when the mitochondria don't work, and that's why these hearing and ovarian problems occur.

As girls do not usually receive this diagnosis until puberty, the earlier diagnosis would help young women to 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.



Source: Medindia