Written by: Mayukha Kashyap
Can new research about genetic mutations help scientists understand why women have fertility issues and early menopause?
Menopause is often portrayed in the media as a time that women dread because of the physical and mental changes they go through. The women are characterized as being in severe pain and acting hormonally. Some even are portrayed as irrational, crying for no apparent reason and getting angry quickly. However, studies show that emotional changes are not related to hormones and instead have to do with general stress and anxiety associated with midlife. So what exactly is menopause then?
According to the Mayo Clinic, menopause marks the end of a woman’s menstrual cycles, usually diagnosed 12 months after their last period. While the age range varies for menopause, most women experience it around their 50s. Some symptoms include irregular periods, hot flashes, sleep problems, mood changes, weight gain, and chills. These symptoms also vary from person to person.
Some women also experience early menopause; their ovaries stop producing eggs before 45 years old. The lack of eggs results in low estrogen levels - estrogen is the hormone that regulates the reproductive cycle. Early menopause can be caused by genetics, lifestyle factors, autoimmune diseases, epilepsy, and chromosomal defects, although sometimes doctors cannot determine a cause. While early menopause does not require treatment, it can cause infertility and other estrogen-related issues. New research by the Washington University School of Medicine suggests that genetic mutations may be linked to infertility and early menopause.
A gene named NEMP1 (Nuclear envelope membrane protein 1) is usually studied in animals, not humans. Researchers linked NEMP1 to eye problems in animals such as fruit flies. However, researchers Helen McNeill, Larry J. Shapiro, and Carol-Ann Uetake-Shapiro discovered that animals missing this gene were sterile and had fertility issues. They soon realized this pattern carries over in humans as well. When studying fertility in mice, they saw that their ovaries lost the eggs, determining their fertility. In other words, having a mutation of this gene had a direct effect on mice fertility. McNeill explained that it worked the same way in humans. When the NEMP1 gene has a mutation in women, they lose their eggs, which is a standard signal of early menopause. Therefore there is a direct correlation between NEMP1 and menopause in women.
What does this mean for women? McNeill believes the nuclear envelope around the ovaries has something to do with the early menopause. "If you have a softer nucleus, maybe it can't handle that environment," says McNeill. A softer nucleus, she believes, may trigger the death of the eggs, leading to early menopause. She and the other researchers, however, are unsure about the relationship between NEMP1 mutations and infertility. They have decided to use stem cells to turn into egg cells with CRISPR technology to see what effects the mutations have on the nuclear envelope. McNeill states that if there is a correlation between infertility and the mutations, more research will have to be done to see if there is a way to fix the mutations. Until then, she encourages women to maintain a healthy lifestyle and understand their genetic history.
Sources:
“Menopause.” Mayo Clinic, Mayo Foundation for Medical Education and Research, 7 Aug.
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www.mayoclinic.org/diseases-conditions/menopause/symptoms-causes/syc-20353397.
Washington University School of Medicine. "Genetic mutations may be linked to infertility,
early menopause: Gene in fruit flies, worms, zebrafish, mice and people may help explain
some fertility issues." ScienceDaily. ScienceDaily, 31 August 2020.
<www.sciencedaily.com/releases/2020/08/200831154401.htm>.
Watson, Stephanie. “Am I Going Through Early Menopause?” Healthline, Healthline
Media, 17 Jan. 2019, www.healthline.com/health/menopause/causes-early.
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