Researchers Find a Link between the “Housekeeping” Gene and Male Infertility

By Gilberto Santa Rosa from Rio de Janeiro, Brazil. (be_sperm.) [CC BY 2.0 (], via Wi

Scientists have found evidence that a “housekeeping” gene present in every single cell of the human body could be linked to fertility issues in men. The study results suggest a deficiency of the survival motor neuron gene or SMN gene, could have different impacts in men and women.

The Research Study

Ravindra Signh, professor of biomedical sciences in the ISU College of Veterinary Medicine, has studied the survival motor neuron (SMN) gene for decades. A deficiency in this gene, known as the “housekeeping” gene, is serious because it is integral to basic cell functions, can cause neurological problems such as spinal muscular dystrophy.

Dr. Singh’s lab found a link between SMN genes and male infertility, making it one of only a select handful of genes thought to have a connection of this nature. The findings of the study appear in Scientific Reports, a peer-reviewed academic journal published by Nature.

The group conducted a genome-wide study of SMN gene deficiency in mice and found out there’s a surprising correlation between low levels of gene expression and testicular size and low sperm count in men.

Singh said, “We need to have housekeeping genes for normal function. Every cell in the body requires them. Our findings seemed to uncover a new function of the gene and suggest SMN plays a role in testicular development. Mice with deficient levels of the gene had lower sperm count and more instances of infertility.”

Singh said approximately 5 percent of males deal with infertility issues, and little is known about the intersection of genetics and infertility. Dr. Singh stated genome-wide association studies have linked only about six genes in the human genome to male infertility, possibly making SMN another such gene. However, he cautioned that further human-based studies are needed to validate his group’s findings, since they are based upon observations in rodents.
Dr. Signhs study also suggested that deficiencies in SMN could have different effects in men and women. Further, developing knowledge could lead doctors to take into consideration a patient’s sex when figuring out treatment for SMN deficiencies.

He said the next step in research is to be able to determine how early SMN deficiency can change testicular development in mice and what particular cells are the target.

Conclusion to the Study:

Signh said the new research guides new ways of thinking about medical therapies and how they interact with genetics.

He states, “We’re heading toward an age of molecular medicine, where treatments can depend on the individual genetic differences in patients. What mutations you have could impact what treatments you receive.”


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