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Gene Linked to Early Menopause


Author: Corrine Welt

While most women experience menopause around 51 years of age, women with primary ovarian insufficiency go through menopause before the age of 40, with some going through the life-altering event as early as in their teens. Corrine Welt, MD, professor of internal medicine at University of Utah Health, believes an answer may lie in the scores of genetic data housed in the Utah Population Database (UPDB).

Welt and her research team focused on one family with three generations of women affected by ovarian failure. The team compared the family’s genomic sequences to genetic information obtained from 96 unaffected patients included in UPDB, as well as 96 women with primary ovarian insufficiency, but no family history.

Using three different software technologies developed at the USTAR Center for Genetic Discovery at the University of Utah, a mutation in one gene—POLR2C—was shared among all members of this family. This gene codes for a large section of an important enzyme that is necessary for building proteins that allow the body to function properly.


Corrine Welt, MD
The research team found that the mutation affects how cells that divide rapidly function. Welt hypothesized that the mutation could also affect germ cells that form the life complement of oocytes [immature egg cells] by the time the fetus is 12-weeks of age. This mutation may cause fewer oocytes to form in the fetus. When the reduced number of oocytes die off, the women may experience premature menopause. Welt and her research team will carry out additional studies to validate this hypothesis.