London: A team of researchers has identified a common link between Perrault syndrome, a rare genetic condition that results in hearing loss in men and women, and early menopause or infertility in women.
Research led 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 the same condition.
Not only will families with this specific type of hearing loss directly benefit, but a deeper understanding of the biological processes involved in hearing is likely to have broader implications, providing insight into more common forms of hearing loss, the researchers said. he said.
According to Bill Newman, Professor of Translational Genomic Medicine at the Manchester Center for Genomic Medicine, the research began 10 years ago at St Mary’s Hospital, when a local family had Perrault syndrome. After some genetic studies, doctors identified a new gene and changes in that gene that caused the condition.
Newman said that after sharing the discovery he had requests from around the world to “ask us to test it in their patients, to see if they have changes in the same gene”.
While they did not find the same change in the gene as the Manchester family, it prompted them to search for other genes.
“We know that these genes are important in a part of the cell called mitochondria, which are known as the cell’s energy bundles, we know that some tissues in our bodies are very sensitive when mitochondria don’t work, and That’s why we believe these are hearing and ovarian problems,” Newman said.
“Since girls usually don’t get this diagnosis until puberty, an earlier diagnosis will help young women make decisions about preserving their eggs before menopause, to allow for reproductive 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 potentially life-changing implications for families,” he said.
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