10-year Study Provides Breakthrough in Understanding Male Infertility

Credit: Newcastle University Hope has emerged for infertile men as scientists at Newcastle University have understood the importance of a gene in regulating the production of fully-functioning sperm. For the first time, experts have identified the role of gene, RBMXL2, which is very similar to a possible infertility gene found on the Y chromosome found only in men.

Expert opinion

An explanation for men with profoundly abnormal sperm tests is often not forthcoming. Routine tests look at hormones, karyotype (chromosomes), cystic fibrosis genes and microdeletions on the Y chromosome. Nonetheless, more often than not the results are normal.

Making sperm is a complicated process with many steps. This means plenty of opportunities for tho gs to go wrong. Current thinking is that it involves lots genes, many of which we don’t know about.

This study in mice is promising for identifying another gene which may be responsible. Further studies, including the DOMAIN study in Newcastle are looking for other potential genes. We’re hopeful that in the future even if we can’t provide treatment, we can at least give an explanation as to why the problem has arisen.

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