A New Genetic Culprit for Male Infertility and Its Ripple Effects
A study in Human Reproduction identifies DNAH14 as a novel gene critical for male fertility. Researchers found that biallelic pathogenic variants in DNAH14 cause asthenoteratozoospermia in men, characterized by severely reduced sperm motility. The defect stems from a mislocalized sperm annulus and disorganized mitochondrial sheath in the sperm flagellum, compromising its structural integrity. Using a CRISPR-Cas9 knockout mouse model, the study confirmed that loss of Dnah14 leads to subfertility with the same sperm abnormalities. Intriguingly, while intracytoplasmic sperm injection (ICSI) could achieve fertilization, offspring from knockout males showed reduced survival and growth retardation, suggesting potential epigenetic consequences beyond mere conception.
Why it might matter to you: This research expands the genetic diagnostic panel for male infertility, a common concern in reproductive medicine and gastroenterology practices dealing with systemic manifestations of genetic disorders. The finding that a structural sperm defect can impact postnatal development through possible epigenetic mechanisms introduces a new layer of complexity for patient counseling. It underscores the importance of comprehensive genetic screening in infertility cases, as identifying such variants can inform treatment strategies like ICSI and provide clearer prognostic information about potential child health outcomes.
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