Hope for women with incurable ovary condition: Scientists discover gene that causes it

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Hope for women with incurable ovary condition: Scientists discover gene behind the main cause of female infertility – paving the way to treatment

  • PCOS, the leading cause of infertility among women and type 2 diabetes, affects one in 10 women of childbearing age 
  • The condition is also linked to weight gain, excessive hair growth and acne among women
  • Research revealed a gene involved in male hormone production called DENND1A plays a major role in the development of PCOS
  • The discovery could now lead to new methods of treatment 

A male gene which triggers abnormal testosterone levels among women could be the main cause of infertility, suggests new research.

A study into the causes of polycystic ovary syndrome (PCOS), which affects one in 10 women of childbearing age, found DNA containing high levels of testosterone plays a key role in the condition. 

PCOS, the leading cause of infertility among women and type 2 diabetes, affects one in 10 women of childbearing age.

The study, by Chicago and New York scientists, is the first of its kind to use family-based genetic analysis to investigate the causes of PCOS.

The condition is also linked to weight gain, excessive hair growth and acne among women.

Research revealed a gene involved in male hormone production called DENND1A plays a major role in the development of PCOS.

The discovery could now lead to new methods of treatment.

Study lead author Dr Andrea Dunaif, of the Icahn School of Medicine at Mount Sinai in New York, said: ‘PCOS is a major cause of female infertility and is associated with other serious health problems.

‘Our findings provide important new insights into the mechanisms by which genetic variation causes PCOS.

‘The rare genetic variants we found may be much better for predicting the condition than the common variants.

‘Targeting pathways regulated by this gene could lead to new therapies for the condition.’

Dr Dunaif explored the genetic basis of PCOS.

She and her team analysed the whole-genome sequencing of DNA from the members of 62 families of women with PCOS.

Families who volunteered to be a part of the study included both parents and one or more reproductive-age daughters with PCOS as well as unaffected daughters.

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The genes were analyzed and the team discovered which genes contained variants likely to be damaging women’s ovaries.

Roughly half of the families were found to bear rare genetic variants of the male gene, DENND1A, in their reproductive and metabolic hormone levels.

The gene is important in testosterone production in the ovary – which is a key hormonal imbalance found in women suffering with PCOS. 

Co-author, Dr Geoffrey Hayes, an associate professor at Northwestern University, added: ‘After sequencing the entire genomes of many families affected by the disease, this has enabled us to study how certain rare genetic variants are associated with PCOS.

‘We hope our results will help uncover some of the involved hereditary mechanisms and ultimately teach us more about the molecular drivers of the disorder.’

Research began at Northwestern University Feinberg School of Medicine in Chicago and completed at the Icahn School of Medicine Mount Sinai in New York.

The findings were published in The Journal of Clinical Endocrinology and Metabolism.



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