Study Gives New Genetic Insight to Fragile X Syndrome

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[Source: Medical News Today]


Researchers have furthered their knowledge of fragile X syndrome – the most common known cause of inherited intellectual disability – thanks to a patient with a mutation in a specific gene exhibiting some of the disorder’s symptoms.

The new insight given by the study could have an impact on the development of treatments for fragile X syndrome.

Usually, fragile X syndrome is caused by the disabling of the fragile X mental retardation (FMR1) gene responsible for creating a protein – fragile X mental retardation protein (FMRP). FMRP is used to regulate electrical signals in the brain.

However, the patient examined in the study had only a single error in this gene and exhibited just two of the primary symptoms of the disorder. As a result, the researchers were able to analyze a hitherto unknown role for the gene.

“This individual case has allowed us to separate two independent functions of the fragile X protein in the brain,” says co-senior author Prof. Vitaly A. Klyachko, associate professor of cell biology and physiology at Washington University School of Medicine in St. Louis, MO.

Read the Rest of this Article on Medical News Today

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