The Martin-Bell syndrome, also known as the fragile X syndrome, is a genetic disorder in which the expression of the fragile X mental retardation 1 (FMR-1) protein is impeded.

This leads to poor neural development, and can result in a number of other physical, intellectual, emotional and behavioral side-effects, lasting throughout the patient's life. Experts from the University of California in Davis (UCD) have now developed a specific and quantitative means of measuring the levels of FMR-1 proteins inside the human body, as reported in the July issue of the Journal of Molecular Diagnostics.

Earlier research work has demonstrated that nearly one third of fragile X syndrome patients – caused by a mutation in the FMR-1 protein – also suffer from autism, a fact that makes this mutation the number-one cause of autism worldwide. Additionally, the Martin-Bell syndrome is also the most common form of inherited intellectual impairment, which can manifest itself more in women, on account of the fact that they have two X chromosomes. Fathers cannot pass the disease to their sons, but they can pass it to their daughters, while women can pass it to both genders.

The main culprit in the development of the disease is, in fact, a sequence in the FMR1 gene that is repeated an abnormally high amount of times. While in regular individuals the sequence appears about ten to 40 times, in fragile X syndrome patients it can appear 200 to 1,000 times, drastically decreasing the levels of the FMR protein. Tests to assess if the mutation exists within the chromosomes already exist, but they cannot quantify the amount and determine the risk of the disease, or its potential severity.

UCD Professor Dr. Paul Hagerman, the leader of the new research, working together with his team, has now managed to finally create a sensitive and highly specific test for the FMR protein, which can detect proteins throughout the biologically relevant range of protein concentrations. Another good news is that the technology is ready for wide-scale implementation now, and not in several years.

This “method should prove to be a powerful tool for further investigation of the relationships between FMRP and the diverse clinical phenotypic domains [of fragile X syndrome]. Such domains include not only autism and autism spectrum disorders, but also developmental delay, behavioral difficulties, anxiety, ADHD, and mood. Involvement among carriers of smaller (premutation) alleles can also involve developmental delays and/or autism spectrum disorders,” the researchers write.

Hagerman shares that, “Further large-scale studies [are planned], to recognize the value of the measurement and how FMRP influences the multitude of phenotypes associated with the FMR1 gene and variations seen in the normal population.”

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