In a recent study, scientists have discovered a gene that is possibly behind the cause of premature menopause in many women. This gene variant when inherited from both parents can lead to menopause, the period during which a woman's menstrual cycle stops almost a decade earlier.
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In our bodies, gene variants are tiny changes in the instructions that make us who we are, sometimes leading to different traits or health conditions.
The DeCODE Genetics scientists, who published their findings in Nature Genetics, focused on a rare genetic variant in the CCDC201 gene, which influences when women go through menopause.
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The researchers analysed data from more than 174,000 women from Iceland, Denmark, the UK and Norway. They found that women with two copies of this variant, known as homozygotes, experienced menopause much earlier, on average, nine years earlier than those without the variant.
The CCDC201 gene, which was identified as a protein-coding gene in humans in 2022, is highly active in egg cells. The study suggests that losing the function of this gene has a major impact on female reproductive health.
Premature menopause is common in women who have two copies of this gene variant. About 1 in 10,000 women of Northern European descent have this variant, and about half of those women experience primary ovarian insufficiency, meaning they go through menopause before age 40.
As a result, these women have fewer children and are unlikely to have children after age 30. This finding highlights the need to consider a variety of genetic factors when studying conditions such as primary ovarian insufficiency.
It also suggests that genetic counseling may be beneficial for women who have this variant, helping them make informed decisions about their reproductive health and manage symptoms of premature menopause.
Everything you need to know about menopause
Menopause is the time that marks the end of a person's menstrual cycle. It is the natural decline of reproductive hormones. It is diagnosed when you go without menstruation for 12 months, especially during your 40s or 50s.
The period before your menstrual cycles stop completely marks perimenopause, in which menstrual cycles fluctuate. This can happen up to 10 years before menopause.
As hormone levels drop, postmenopausal women are at greater risk for certain health conditions. These include heart disease, osteoporosis, and urinary incontinence.
The drop in estrogen levels also affects cholesterol levels, increasing the risk of heart disease. Bone density decreases after menopause, making bones more vulnerable to fractures.
There are many ways to manage menopause symptoms. In addition, hormone replacement therapy (HRT), lifestyle changes such as maintaining a healthy diet, regular exercise, and stress management techniques can help.
Menopause can also have an emotional and psychological impact. Some women experience mood swings, anxiety or depression during this time, partly due to hormonal changes, but also due to the life changes that often coincide with menopause.
Experts often suggest acknowledging these feelings and seeking help, whether through therapy, support groups, or by talking with friends and family.
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