Новости | Выявлены ключевые гены: новое открытие может защитить мужскую фертильность

Новости | Выявлены ключевые гены: новое открытие может защитить мужскую фертильность

Команда Эдинбургского университета обнаружила два ключевых гена, которые совместно защищают мужскую фертильность. Это открытие может помочь объяснить некоторые наиболее тяжёлые формы бесплодия.

Genetic analysis of мужская бесплодие showed that rare variants in SPOCD1 disrupt healthy sperm formation at its earliest stage. SPOCD1 also works with the newly identified gene C19orf84 to protect sperm precursor cells—germ cells—from damage.

This partnership is crucial during early embryonic development, when germ cells must protect their DNA and become a self-renewing reserve that produces healthy sperm in adulthood.

Working with researchers at the University of Münster and other universities, Edinburgh scientists screened an international database of 2,913 men in бесплодие studies. They identified three men with defective SPOCD1 variants that damaged germ cells, prevented healthy sperm development, and caused бесплодие.

The study also revealed how SPOCD1 and C19orf84 cooperate. The C19orf84 protein acts as an intermediary, linking SPOCD1 to the cellular system that creates protective chemical marks and prevents jumping genes from damaging the genome during sperm development. This offers new insight into how germ cells avoid damage during genetic reprogramming.

The Wellcome-funded study was published in Molecular Cell and included researchers from the University of Oxford, University Hospital Münster, the University of Melbourne, Oregon Health & Science University, the University of Utah, and Technische Universität Berlin.

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