Wellbeing issues

Exploring the connection between a genetic condition and premature ovarian insufficiency

Wellbeing of Women has invested £26,257 in Dr Roseanne Rosario’s project which looks to better understand Fragile X-associated premature ovarian insufficiency.

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Premature ovarian insufficiency (POI) is when the ovaries stop working.

Affecting about one in 100 women before the age of 40 and five in 100 women before the age of 45, POI means a woman no longer releases eggs, or releases them irregularly. Not only can this trigger early menopause, but it can cause irregular periods and infertility.

Things thought to cause POI include autoimmune diseases, infections such as malaria and tuberculosis, and chromosome abnormalities.

In her project, Wellbeing of Women researcher Dr Roseanne Rosario is exploring Fragile X-associated premature ovarian insufficiency (FXPOI), the most common known type of ovarian failure.

The condition is caused by a genetic mutation in the Fragile X gene, and these changes can lead to overproduction of Fragile X mRNA molecules.

Scientists believe that that the abnormally high levels of these mRNA molecules could be trapping other proteins and stopping them from functioning properly and causing other important cells to die. It could also be that the protein made from the gene is toxic.

This is important for women with FXPOI, because this type of mutation, when passed onto sons, can also sometimes result in fragile X syndrome – causing those sons to have autism or an intellectual disability.

But unfortunately, before they develop FXPOI, women often have children without being aware they carry the gene.

Dr Rosario’s lab has already found evidence that cells called granulosa cells – which support a woman’s eggs as they mature – might be affected by this mutation, but experts don’t fully understand the connection.

So, to test this further, Dr Rosario and her team will grow human granulosa cells with this gene abnormality and take a closer look at what happens to them over time.

They will also use cutting-edge methods to identify what important proteins might get trapped in these clusters.

By taking a closer look at the origins of FXPOI, Dr Rosario and her team could not only better understand Fragile-X abnormalities and its connection to premature ovarian insufficiency, but explore potential treatments of the future – transforming the lives of women and their children.

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