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Researchers Pinpoint Genes Behind Form of Early Menopause

By Ernie Mundell HealthDay Reporter

Medically reviewed by Carmen Pope, BPharm. Last updated on Sep 3, 2024.

TUESDAY, Sept. 3, 2024 -- Cases of menopause occurring before the age of 40 can be a major cause of distress and discomfort for women, but researchers now believe they've homed in on the condition's genetic cause.

A team at deCODE genetics sought to understand the origins of what's known as primary ovarian insufficiency, which triggers menopause an average of nine years before it typically occurs in women.

The deCODE team worked with colleagues in Iceland, Denmark, the UK and Norway to analyze the collected DNA of 174,000 women living in those countries.

They focused especially on a gene called CCDC201. In 2022, CCDC201 was identified as a protein-producing gene and was later found to be "highly expressed in egg cells," according to a deCODE news release.

Just how CCDC201 might go awry to trigger menopause early hasn't been known, however.

The new research revealed the specific change in a snippet of CCDC201 gene coding that seems to effectively terminate its function.

However, a woman needed to carry two copies of this defective variant for primary ovarian insufficiency to occur, the researchers noted. That seems to happen in about 1 in every 10,000 women of Northern European descent, the deCODE group found.

This "leads to primary ovarian insufficiency, defined as age at menopause before the age of 40, in nearly half of carriers," according to the deCODE news release.

The discovery might be important for women who are considering having children.

Testing for this newly discovered genetic link could help women make better decisions around their odds for early menopause and the appropriate timing of childbearing, the researchers said.

The findings were published Aug. 27 in the journal Nature Genetics.

Disclaimer: Statistical data in medical articles provide general trends and do not pertain to individuals. Individual factors can vary greatly. Always seek personalized medical advice for individual healthcare decisions.

© 2025 HealthDay. All rights reserved.

Posted September 2024

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