A new and quick way of diagnosing male infertility has been developed.
It can take a year or even longer of trial and error for a doctor to determine if a man is infertile.
But new research could change that.
An international team of scientists have discovered that infertile men have identifiable patterns of epigenetic molecules or biomarkers attached to their sperm DNA that aren’t present in fertile men.
The researchers also identified epigenetic biomarkers among infertile patients who responded to hormone therapy to treat their condition compared to those who did not.
Their findings could eventually provide doctors with a reliable way of screening men for infertility – and figuring out which treatment options will work best for their patients.
The research team said that could in turn save couples, where the man is incapable of having children naturally, the extended period of time it usually takes before a doctor will recommend they see a specialist for medically-assisted reproduction.
Currently, the primary method for diagnosing male infertility is to assess sperm quantity and movement, which has been historically of limited success separating fertile from infertile men.
Study leader Professor Michael Skinner, a reproductive biologist at Washington State University in the United States, said: “Male infertility is increasing worldwide and is recognised as playing a key role in reproductive health and disease.
“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.”
Unknown infertility
Prof Skinner said around one in five men who require IVF to have children will have infertility problems where the cause is unknown.
He explained that those men are usually put on a regimen to try to have a child with their partner for a year or more before being recommended for IVF.
Prof Skinner and his collaborators wanted to see if they could come up with a diagnostic to get rid of that period of uncertainty.
The teams knew from previous research there was a possible link between male infertility and alterations to groups of methyl molecules stuck to sperm DNA that regulate how certain genes function.
They used advanced molecular analysis techniques to see if they could reliably identify those alterations, or biomarkers, in the methyl groups attached to the sperm DNA of both fertile and infertile men who agreed to participate in a research study.
They found that all of the infertile men in the study possessed a specific biomarker that the fertile men did not.
The researchers also identified another biomarker among the infertile men that could be used to determine who would be responsive to hormone therapy treatment (HRT).
The researchers are now setting up a much larger clinical trial to test their male infertility diagnostic for potential commercialisation.
While still at an early stage, Prof Skinner and his colleagues’ work shows for the first time that diagnostics based on external modifications to DNA, or epigenetics, can be used to determine the presence of a disease and the ability to treat it.
In the long run, say that their research could not only have major implications for the treatment of male infertility but for a wide variety of other diseases as well.
Prof Skinner added: “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 findings were published in the journal Nature: Scientific Reports.
