Gene tweak could cure mental disease
doi:10.1038/nindia.2007.36 Published online 20 December 2007
By altering a single gene, a wide range of syndromes of Fragile X Syndrome (FXS) — the most common form of heritable mental retardation and the leading identified cause of autism — can be corrected, new research suggests1.
The research sheds new light on the genetic abnormality and raising hope that it can be treated. Many of the symptoms associated with FXS are caused by the unchecked activation of a chemical called mGluR5 found in the nervous system. By reducing the activation of this chemical, some of the symptoms can be controlled, the researchers say.
FXS is caused by transcriptional silencing of the FMR1 gene that encodes the fragile X mental retardation protein (FMRP), but the pathogenesis of the disease is unknown. The team generated Fmr1 mutant mice with a 50% reduction in mGluR5 expression and studied a range of physical attributes with relevance to the human disorder.
The results demonstrate that mGluR5 contributes significantly to the pathogenesis of the disease, a finding that has significant therapeutic implications for fragile X and related developmental disorders.
The authors of this work are from: Howard Hughes Medical Institute, The Picower Institute for Learning and Memory, Department of Brain and Cognitive Sciences, Massachusetts Institute of Technology, Cambridge, USA; Department of Neuroscience, Brown Medical School and the Division of Biology and Medicine, Providence, RI 02912, USA; Department of Neurophysiology, National Institute of Mental Health and Neuroscience, Bangalore, India; National Center for Biological Sciences, Tata Institute of Fundamental Research, Bangalore.