Genetic Mutation Causes Male Infertility, Offering New Diagnostic Insights
In this study, scientists investigated the causes of male infertility by studying three infertile brothers from Pakistan. These brothers had trouble with sperm movement but no other related symptoms. Through genetic testing, researchers found a DNAH17 gene error that makes sperm tails unstable, leading to infertility. The error, called a missense variant, affects specific parts of the sperm tails, making them less stable than normal. By studying mice with the same gene error, scientists confirmed that this instability in sperm tails contributes to infertility in these men. This discovery could help in understanding and diagnosing male infertility problems associated with DNAH17 gene variations.