Genetic finding provides new insight into female infertility

A research collaboration co-funded by the Wellcome Trust has identified a new genetic cause for primary ovarian insufficiency, a condition which can lead to infertility in women - a finding which could lead to the development of a possible diagnostic test. Primary ovarian insufficiency, also known as premature ovarian failure, is characterised by the loss of normal function of the ovaries before the age of 40 years. It is a common condition, affecting around one in a hundred women. It can be caused by a number of factors, including autoimmune diseases, but in many cases the exact cause is unknown. Scientists believe that there is likely to be a genetic basis for the condition in some women, since a substantial minority of cases occur within families; however, only rare genetic mutations have been identified to date, which cause only a minority of cases. Research led by Ken McElreavey and Anu Bashamboo from the Institut Pasteur in Paris has now identified mutations of a gene - known as NR5A1 - which are thought to be associated with  primary ovarian insufficiency. et al., 'Mutations in NR5A1 Associated with Ovarian Insufficiency'), and will be available in print in the 19 March issue.