Genetic manipulation ‘fixes’ Fragile X syndrome
Further to my article on Fragile X Syndrome the BBC health website has posted this article:
“Genetic engineering has been used to alleviate symptoms Fragile X in mice, which is a leading cause of inherited learning difficulties and autism. There is currently no treatment for Fragile X syndrome, also linked to epilepsy and abnormal body growth, but the new work raises hopes of progress.
A Massachusetts team were able to trigger big improvements in the mice by tweaking just one gene, FMRP. The researchers, from the Picower Institute for Learning and Memory at Massachusetts Institute of Technology, examined mice which lack the FMRP gene, and show many of the symptoms associated with fragile X.
They also created mice that not only lacked FMRP, but also had a 50% reduction in mGluR5. This second group of mice showed fewer symptoms of fragile X, fewer signs of abnormalities in the brain, and fewer signs of abnormal body growth. For example, loss of the FMRP gene produces overgrowth of connections between nerve cells called dendritic spines. However, when coupled with a 50% reduction in mGluR5, spine density was completely normal. The ‘double mutant’ mice also showed substantial reduction in epileptic seizures.
Lead researcher Dr Mark Bear said: “These findings have major therapeutic implications for fragile X syndrome and autism.”
Fragile X syndrome is known to be caused by loss of the gene for “fragile X mental retardation protein” (FMRP), which is believed to act as a brake on protein synthesis in specific areas of brain circuitry. The authors’ idea was that loss of the “brake” would allow another protein that stimulates this process, called metabotropic glutamate receptor 5 (mGluR5), to function unchecked.
For further information on this research visit: www.cellpress.com
Elaine Warburton
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POSTED IN: Autism, Epilepsy, General Genetics and Health, Genetic Engineering, Genetic Testing, Genetics of Disease, Personalized Medicine, gene therapy
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