Scientists were able to locate the first well-documented genetic abnormality that could increase the risk of a man having an erectile dysfunction. This discovery shed light in developing new treatments, according to the study in a US journal published on Monday.
The study, titled "Genetic variation in the SIM1 locus is associated with erectile dysfunction," was published in the Proceedings of the National Academy of Sciences.
Erectile dysfunction is defined as the inability to maintain or develop erection during sex. Although this is sometimes normal, the condition might affect a man's sex life, relationship, and self-image when it occurred regularly.
The research team found a "T-risk allele" while they are examining genetic information. An allele is described as a variant form of a gene. In this case, it is a variation near the SIM1 gene.
Geneticist Eric Jorgenson, who is the lead author of the study, said this is "an exciting discovery" which could lead the way in exploring new therapies that target genetics.
"Identifying this SIM1 locus as a risk factor for erectile dysfunction is a big deal because it provides the long sought-after proof that there is a genetic component to the disease," said Jorgenson, who is also a research scientist at Kaiser Permanente.
Men who have the copy of the genetic variant have a 26 percent higher risk of erectile dysfunction (ED) compared to those who do not. Meanwhile, those who have two copies of the genetic variant have a 59 percent higher risk.
The findings were based on the database of 36,649 patients of Kaiser Permanente Northern California, which is a health care provider. Then, the results have been validated by conducting a study among 222,300 men in Britain.
One in five men has been found to have a genetic abnormality, according to a study in 2007, and this number rises with age. According to the South China Morning Post, about a third of erectile dysfunction risk is associated with genetic factors.
In the new study, Jorgenson and his colleagues identified that the genetic variant alone accounts for 2 percent of the risk. Cardiovascular disease, obesity, and diabetes also have genetic components linked to erectile dysfunction.
"We know that there are other factors for ED including smoking, obesity, diabetes and cardiovascular disease, and men who address those factors can reduce their risk of ED," Jorgenson noted. "Because the region that we identified in the human genome appears to act independently of those risk factors, developing new treatments that target the variation in this genetic location has the potential to help those men who do not respond to current treatment."
Roughly half of the patients diagnosed with erectile dysfunction do not see their symptoms improve with currently available treatments. If the source is psychological, doctors recommend patients to have sessions with a licensed therapist. In some cases, patients were prescribed to take medications or even surgery. However, these treatments might include side effects such as infection, headaches, and muscle pains.
As per Jorgenson, 50 percent of men with erectile dysfunction do not respond to the dysfunction treatments currently available. Now, they want to explore how such variation affects the risk of the condition and noted that it may interfere with the functioning of certain brain circuits.
Jorgenson also added that discovering a biological explanation could shed light on developing new treatments.
