Finding Genetic Causes of Infertility Diseases
Corrine Welt, MD, professor of internal medicine at University of Utah Health, has spent the past 20 years helping women with infertility. Even with the many medical advances that have happened over that time, there are still no treatments for women with Primary Ovarian Insufficiency (POI).
Affecting one percent of women worldwide, POI hastens the onset of menopause, robbing women of fertility. In severe cases, girls begin menopause before starting puberty. Because the condition runs in families, Welt has turned to genetics to understand POI. Delving into the Utah Population Database (UPDB), she began a search for gene mutations that are shared by multiple affected family members but are not found in women with POI who do not have a family history of the condition.
Her work pointed to one gene, POLR2C. This mutated gene accelerates human cell division. She believes this mutation may cause women’s germ cells to divide rapidly, exhausting their potential supply of eggs for fertilization.
A second gene, PSMC3IP, was discovered in a Yemini family. Using Truploidy, a new gene tool developed by the USTAR Center for Genetic Discovery. She believes that this mutated gene prevented women in the family from going through puberty and also affected one male from producing viable sperm.
Welt is continuing to mine the UPDB to identify additional genes that could increase the risk for POI. Her goal is to develop DNA tests to identify women at risk for this devastating condition so they can review their fertility options and plan for their future family.