Work

Fragile X syndrome: causes, diagnosis, mechanisms, and therapeutics

Year: 2012

Type: article

Abstract: Fragile X syndrome (FXS) is the most frequent form of inherited intellectual disability and is also linked to other neurologic and psychiatric disorders.FXS is caused by a triplet expansion that inhibits expression of the 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.Conflict of interest: Randi Hagerman has received grant support from Roche, Novartis, Seaside Therapeutics, Forest, and Curemark to carry out clinical trials for fragile X and/or ASD.She has also consulted with Novartis regarding clinical trials in fragile X syndrome.Giovanni

Source: Journal of Clinical Investigation

DOI: 10.1172/jci63141

Authors: Claudia Bagni, Flora Tassone, Giovanni Neri, Randi Hagerman

Institutions: KU Leuven, University of California, Davis, Università Cattolica del Sacro Cuore, University of California Davis Medical Center

Language: English

Topic: Genetics and Neurodevelopmental Disorders

Subfield: Genetics

Field: Biochemistry, Genetics and Molecular Biology

Domain: Life Sciences

SDG: Good health and well-being

Open Access status: bronze

Funders: FRAXA Research Foundation, Compagnia di San Paolo, National Center for Research Resources, Eunice Kennedy Shriver National Institute of Child Health and Human Development