The Gene that Causes Male Infertility

Reproduction is a primal instinct. The need to procreate has been ingrained in us ever since the birth of our species. And although our bodies are primed to efficiently create offspring, over time, due to several factors, there have been many cases where individuals have lost the ability to do the same. Barring the fact that researchers have attributed half of infertility related cases to male factors, the majority of the reasons behind infertility have been difficult to determine. Furthermore, even the genes that are involved in male infertility have remained a gray spot. But a new study led by investigators at Brigham and Women’s Hospital has helped make some interesting discoveries that could possibly shed more light on this topic. 

Researchers found that a genetic rearrangement and variants affecting a gene known as SYCP2 was associated with low sperm count. The build up to this discovery began when the team started studying a case that was referred to them by a physician. The subject termed as DGAP230 was analysed as part of the Developmental Genome Anatomy Project (DGAP), an initiative that was started with the goal of gaining a better understanding of the genetics behind birth defects and underlying molecular basis of development. 

By 28 years of age, the subject had an alarmingly low sperm count and was infertile for about two years. The researchers closely studied DGAP230’s chromosomes and found that he had a balanced chromosomal rearrangement on chromosomes 20 and 22. Through this study the researchers were able to deduce that this genetic abnormality led to a 20 fold increase in the activity of SYCP2. Following this, they conducted a series of experiments using yeast and cellular models to analyze the impact of such changes in SYCP2 activity and observed that chromosomal rearrangements may disrupt genes important in fertility. 

In order to supplement their findings, the researchers went a step further by looking for other cases of SYCP2 that contributed to infertility. For this, they partnered with investigators from the University of Munster who had recruited infertile men for a separate study. Through this they found positive results that supported their initial studies. They observed that that disruptions in SYCP2 were significantly more frequent amongst men with infertility than with the general population. 

Infertility is a major problem for young men. With the limitations of current facilities, 40 to 72 percent of men go undiagnosed. Treatment is only secondary because without a diagnosis in the first place, all parties are left completely in the dark without any hope for future solutions. But with this discovery, the situation may soon change. It could help better understand underlying issues and open doors to perform clinical trials. At the very least, this discovery will improve upon the tools that we currently have and with further research, it could potentially help begin the path towards therapy and treatment. 

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