In a study published in the American Journal of Human Genetics, scientists have identified a common link between Perrault syndrome. Perrault syndrome is a rare genetic condition that can result in deafness in men and women and early menopause or infertility in women. Scientists say that people who have problems with hearing loss may be at higher risk of infertility. Let us know about this study in detail.
What did the study find?
Scientists have come to know about this problem in this study led by the NHS Foundation Trust and the University of Manchester. The study found eight different genes that can cause the same condition. Scientists say that based on this study, not only will it help in curing people with deafness, but it can also help in reducing the risk of infertility.
Perrault syndrome is a serious problem
Research on patients with Perrault syndrome began 10 years ago, explains Bill Newman, Professor of Genomic Medicine at the Manchester Center for Genomic Medicine. After some genetic studies, doctors identified a new gene that could cause this type of problem. Professor Neumann says it can cause Jean-Perrault syndrome, which can lead to hearing loss and infertility in some people.
What do scientists say?
Professor Newman explains-
These genes are important for a part of the cell called mitochondria. Studies show that certain tissues in the body become very sensitive when mitochondria do not function properly. It is possible that such conditions can cause problems with the hearing glands and ovaries. But a detailed study is needed to know what percentage of deaf people are at risk of infertility or impotence.
What is the conclusion of the study?
In the conclusion based on the study, scientists say that children who have hearing problems since childhood should be tested for changes in these genes. So that we can identify in time whether they do not have a problem with Perrault syndrome? Doing so may also help protect those children from the risk of infertility or impotence in the future.
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sources and references
Mutations in the DBP-Deficiency Protein HSD17B4 Cause Ovarian Dysgenesis, Hearing Loss, and Ataxia of Perrault Syndrome
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