Scientists link genes to disease that causes hearing loss and infertility


“For many genetic diseases, only one gene is responsible for these health problems. After sharing our discovery, we received requests from all over the world asking us to perform tests on their patients, to see if they had any changes in that same gene.

“Although the patients had the same conditions as the Manchester family, we could not find any changes in this same gene. This made us think that there must be other genes involved. Working with others around the world, we have now identified eight different genes that can cause this same disease.

“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 This is why we believe that these hearing and ovarian problems occur.

“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. “

Dr Ralph Holme, Director of Research and Insight at RNID, said: “We are delighted to have been able to help fund this important research. 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 insight into more common forms of hearing loss. .

Professor Newman added: “Understanding that many different genes and their modifications can cause the same disease helps us think in terms of specific new treatments.

“In the future, knowing that these genes are all linked together, it might be possible to create a treatment that would work for everyone.”

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