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

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.

• Authors: Claudia Bagni, Flora Tassone, Giovanni Neri, Randi Hagerman
• Journal: The Journal of clinical investigation (J Clin Invest) Vol. 122 Issue 12 Pg. 4314-22 (Dec 2012) ISSN: 1558-8238 [Electronic] United States
• PMID: 23202739 (Publication Type: Journal Article, Research Support, N.I.H., Extramural, Research Support, Non-U.S. Gov't)

Chemical References

• FMR1 protein, human
• Fragile X Mental Retardation Protein

Topics

• Animals
• Autistic Disorder (genetics)
• Early Diagnosis
• Epigenesis, Genetic
• Fragile X Mental Retardation Protein (genetics)
• Fragile X Syndrome (diagnosis, genetics, metabolism, therapy)
• Humans
• Molecular Targeted Therapy
• Synaptic Transmission