Dr Roseanne Rosario: Fragile X-associated premature ovarian insufficiency

Understanding the origins of Fragile X-associated premature ovarian insufficiency

Dr Roseanne Rosario, University of Edinburgh

1 in 100 women develop premature ovarian insufficiency (also called premature menopause), before the age of 40. In many cases no cause is identified but the commonest genetic cause is called Fragile X-associated premature ovarian insufficiency (FXPOI).

FXPOI reduces the function of the ovaries and can cause irregular menstrual cycles, early menopause and infertility.

An estimated 1 in 200 females has the FMR1 premutation and a quarter of these women will develop FXPOI.

Fragile X syndrome

Women with FXPOI can pass on Fragile X syndrome to their children. Fragile X is the most common cause of genetically inherited intellectual disability.

Children with Fragile X can find it hard to understand and process information. These difficulties mean they can have problems with learning, behaviour and development.

This condition therefore has very serious consequences for the woman herself and potentially for her children.

This Research

Dr Roseanne Rosario, University of Edinburgh, will use cutting edge technologies to establish a cell-based laboratory model to find out how the gene responsible for early menopause changes over time and to investigate its role in cell death. Through this work the team aim to uncover the key causes of early menopause.

New drugs are currently being developed for neurological Fragile-X related diseases. The team will use the laboratory model they have developed to test these drugs to see if they may also be effective in preventing premature menopause associated with the FMR1 gene.