BBB Seminar: Claudia Bagni
Molecular plasticity in the context of the Fragile X Syndrome
Hovedinnhold
Claudia Bagni
VIB Center for the Biology of Disease, University of Leuven, Belgium
Fragile X Syndrome (FXS) is the most frequent form of inherited intellectual disability and is also linked to other neurological, neurodegenerative and psychiatric disorders. FXS is caused by a triplet expansion that inhibits expression of the Fragile X Mental Retardation (FMR1) gene; the gene product, FMRP, regulates mRNA metabolism in the brain and thus controls the expression of key molecules involved in receptor signaling and spine morphology. While there is no definitive cure for FXS, the understanding of FMRP function has paved the way for rational treatment designs that could potentially reverse many of the neurobiological changes observed in FXS. Additionally, behavioral, pharmacological and cognitive interventions can raise the quality of life for both patients and their families.
Host: Clive R. Bramham, Department of Biomedicine
