IP: Dra. Montserrat Milà Recasens

Resumen del proyecto: Within the past few years, there has been a significant change in identifying and characterizing the FMR1 premutation associated phenotypes. The premutation has been associated with elevated FMR1 mRNA levels and slight to moderate reductions in FMRP levels. Furthermore, it has been established that ~ 20% of female premutation carriers present primary ovarian insufficiency and that FXTAS occurs in one-third of all male premutation carriers older than 50 years. Besides primary ovarian insufficiency and FXTAS, new disorders have recently been described among individuals (especially females) with the FMR1 premutation. Those pathologies include thyroid disease, hypertension, seizures, peripheral neuropathy, and fibromyalgia and their incidence among premutated carriers have been found to be higher than the one detected among general population. This observation suggests that high incidence of FMR1 premutation among females with a clinical diagnosis of fibromyalgia could be detected. Therefore, the aim of the present project is the evaluation of the incidence of FMR1 premutation in a female population with clinical diagnosis of fibromyalgia.

Entidad financiadora: Fundaciò Marato TV3 (Televisiò de Catalunya)