Scientists Link Rare Genetic Hearing Loss “Perrault Syndrome” to Infertility


A team of researchers has identified a common link between Perrault syndrome, a rare genetic condition that causes hearing loss in both men and women, and early menopause or infertility in women. Research by the NHS Foundation Trust and the University of Manchester could revolutionize the diagnosis and treatment of people with Perrault syndrome. The study, published in the American Journal of Human Genetics, found eight different genes that can cause this same disease. Not only will this directly benefit families with this specific type of hearing loss, but a deeper understanding of the biological processes involved in hearing will likely have broader implications, providing information on the most common forms of hearing loss. hearing loss, the researchers said.

According to Bill Newman, professor of translational genomic medicine at the Manchester Center for Genomic Medicine, the research began 10 years ago at Saint Mary’s Hospital, when a local family suffered from Perrault syndrome. After some genetic studies, doctors identified a new gene and changes in that gene that caused the disease.

Newman said that after sharing the discovery, they had received requests from all over the world asking us to “run tests on their patients, to see if they had any changes in that same gene.”

While they didn’t find the same gene changes as the Manchester family, it prompted them to look for other genes.

“We know that these genes are important in a part of the cell called the mitochondria, known as the cell’s energy beams, we know that certain tissues in our body are very sensitive when the mitochondria are not functioning, and this That’s why we believe these hearing and ovarian problems are happening, ”Newman said.

“Since girls typically don’t receive this diagnosis until puberty, an earlier diagnosis would help young women make decisions about saving their eggs before menopause, to allow reproductive options later in life.

“Babies with significant hearing loss will now be screened for changes in these genes so that we can identify sooner if they have Perrault syndrome. This has a potential impact on the lives of families, ”he noted.

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