Background

The FMR1 (fragile X messenger ribonucleoprotein 1) gene exists in different forms, some longer than the typical short version. People with this longer form are FMR1 premutation carrier. Women who are FMR1 premutation carriers have a higher probability of having a child with fragile X syndrome, but the FMR1 premutation seems to also cause greater risk of ill-health in the women carrier themselves, especially hormonal disorders (called endocrine dysfunction).

 

Why did we do this study?

The goal of this study was to check whether these hormonal disorders were predicting other illnesses in women FMR1 premutation carrier.

 

What did we do?
First we reviewed all the research and findings currently available on hormonal disorders in women FMR1 premutation carrier. Second, we asked three groups of women (women with the premutation and hormonal disorders, women with the premutation but without hormonal disorders, and women without the premutation) to complete a short questionnaire about their health.

 

What did we find?

Our review of the available research shows that for women with the premutation, hormonal disorders were indeed predicting other health problems. Thanks to the women who completed the health questionnaire, we also found that women with the premutation and hormonal disorders had more health issues (such as headaches or obsessive-compulsive disorders) than the other two groups of women.

 

Outputs

The results have been published in a peer-reviewed journal, and are available at

Campbell, S., Eley, S., McKechanie, A., & Stanfield, A. (2016). Endocrine Dysfunction in Female FMR1 Premutation Carriers: Characteristics and Association with Ill Health. Genes, 7(11), [7110101]. https://doi.org/10.3390/genes7110101

 

Who conducted and funded the project?

This study was conducted by Sonya Campbell, Sarah Eley, Andrew McKechanie, and Andrew Stanfield. The project was funded by the RS Macdonald Charitable Trust and by the Patrick Wild Centre.