Epigenetic DNA Biomarkers Pinpoint Infertile Men and Predict Potential Success of Treatment

A molecular analysis method was developed that identifies infertility in men through evaluation of genome wide alterations in sperm DNA methylation.

Male infertility is increasing and has been recognized as playing a key role in reproductive health and disease. The current primary diagnostic approach is to assess sperm quality associated with reduced sperm number and motility, which has been historically of limited success in separating fertile from infertile males.


An improved diagnostic approach, based on analysis of genome wide alterations in sperm DNA methylation, was described recently by investigators at Washington State University (Pullman, USA).

Results of this study pointed to a signature of differential DNA methylation regions (DMRs), which was associated with male infertility patients.

Since a promising therapeutic treatment of male infertility is the use of follicle stimulating hormone (FSH) analogs, which improve sperm numbers and motility in a sub-population of infertility patients, the investigators also sought other biomarkers among the infertile patients that could be used to predict who would be responsive to hormone therapy treatment. The investigators reported finding genome-wide DMRs associated with the patients that were responsive to FSH therapy versus those that were non-responsive. This novel use of epigenetic biomarkers to identify responsive versus non-responsive patient populations is anticipated to dramatically improve clinical trials and facilitate therapeutic treatment of male infertility patients.

"Male infertility is increasing worldwide and is recognized as playing a key role in reproductive health and disease," said senior author Dr. Michael Skinner, professor of biological sciences at Washington State University. "Having a diagnostic that tells you right away your male patient is infertile and here are the treatment options that will work for him would be immensely useful. We are interested in investigating a similar diagnostic for determining how patients with arthritis and neurodegenerative diseases such as autism will respond to different treatments. In the area of therapeutics where many of the drugs on the market only work for a fraction of patients, this could ultimately save time, money and facilitate much better healthcare management."

The infertility study was published in the November 14, 2019, online edition of the journal Scientific Reports.

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