Gene behind major cause of women’s infertility found

by | May 7, 2019 | UK Fertility News


Gene behind major cause of women’s infertility found

by | May 7, 2019 | UK Fertility News

A gene that plays a key role in causing polycystic ovary syndrome (PCOS) has been discovered, and could lead to better disease prediction and treatment.

The research, carried out at the Icahn School of Medicine at Mount Sinai in New York City, New York, could potentially help one in ten women of child-bearing age.

Dr Andrea Dunaif, one of the ead study authors at Mount Sinai said:

‘PCOS is a major cause of female infertility and is associated with other serious health problems,’ said one of  ‘Our findings provide important new insights into the mechanisms by which genetic variation causes PCOS.’

The team carried out a genetic, family-based analysis using whole genome sequencing for members of 62 families affected by the disease. This included both parents and one or more reproductive-age daughters with PCOS. It also included daughters unaffected by the condition. They then determined which genes contained genetic variants that would likely damage the ovaries.

Results confirmed that rare genetic variants in the gene DENND1A, which is involved in testosterone production, were present in more than half of the affected families. Heightened testosterone levels are a typical finding in women suffering with PCOS. In particular, two variants in the DENND1A gene showed specific PCOS-related traits.

‘We hope our results will help uncover involved hereditary mechanisms and teach us more about the molecular drivers of the disorder,’ said co-lead author Professor Geoffrey Hayes at the Northwestern University Feinberg School of Medicine, Chicago, Illinois.

Published in the Journal of Clinical Endocrinology & Metabolism, Dr Dunaif anticipates their study results will facilitate earlier diagnosis, more targeted treatments and a possible cure. ‘The hope is with genetic testing we may be able to identify high-risk people and start measures early,’ she told IFLScience.

‘When we understand the genetic pathways that are involved, we can develop drugs to target them. It may be that the gene variants that we’re discovering, which are mainly in the parts of DENND1A, regulate the amount of it that is produced in tissues and maybe some of the structure.

‘If we understand that, then we may be able to come up with ways to alter the increase in DENND1A activity that happens in PCOS and treat the disease itself and even cure a number of patients.’


More articles

Surrogacy UK welcomes Law Commission Consultation Paper on Reforming UK’s Outdated Surrogacy Laws

On 6th June, at a conference entitled ‘Reforming Surrogacy Laws: Future Directions and Possibilities’, the Law Commission of England and Wales and the Scottish Law Commission will launch their public consultation on reforming the UK’s outdated surrogacy laws. Surrogacy UK has long campaigned for legal reform and was consulted by the Law Commission in the preparation of their proposals.

Domicile and Surrogacy: The 5 W’s

“Where is your home?” seems like a simple question. But in our multi-cultural society, that is not always so. For intended parents in a surrogacy arrangement, it is one of the most important questions to ask.

Surrogacy UK Code of Practice update

The HFEA (Human Fertilisation and Embryology Authority) govern and regulate all fertility treatments that take place in licensed fertility centres throughout the UK. The code of practice has recently been updated and we are awaiting the official issue of the 9th edition so that we can implement this into our clinical practice.

NHS Funding and Surrogacy

There’s been much discussion in recent days about the story in the Daily Mail about a same sex male couple in the UK who have received public funding for IVF treatment to try to create embryos using their own gametes and donor eggs.

Fertility regulator calls for clinics to be more open about treatment add-ons

The HFEA, the UK fertility regulator, has called for a change in how patients are offered optional fertility treatment add-ons.

Surrogacy Survey 2018 Results

Surrogates do not support calls for commercial surrogacy in the UK. Over 70 per cent of surrogates in the UK believe they should only be allowed to claim expenses when they carry a child for another couple, the UK’s largest ever survey into surrogacy has found.

Surrogacy UK welcomes individuals who want to start families

Surrogacy UK welcomes individuals who want to start families as UK Parliament votes to end three decades of discrimination.

Research findings from a longitudinal study of surrogacy families in the UK

Around the year 2000, a group of researchers, headed by Professor Susan Golombok, began a study of families created using surrogacy. I have worked on the project from its beginnings, when children in the study were one year old infants. Since then, our team has revisited the families five times and last saw them when the children were aged 14.

Host or Straight Surrogacy – Choosing your path

If you’re reading this then you will have most likely either made the choice that surrogacy is the path to parenthood that you wish to take, or you are close to taking that first big step.