Discovery of new cause of mental retardation simplifies search for ...(concentration. The researchers in Leuven...)

A new mechanism opens possibilities

The VIB scientists research is showing for the first time that the duplication of a chromosome region − whereby proteins are produced in too high a concentration − can lead to mental retardation. This is totally new information in the current understanding of genetic causes of mental retardation without attendant symptoms. Scientists have thought that defects that stop production of a protein, or cause it to be produced in a defective way, could lie at the basis of this disorder. The new discovery that too much of a protein can also cause mental retardation has a major impact on the quest for new therapies or medicines. Indeed, its easier to scale back an over-production of a protein than to repair a defective protein.

Consequences for detecting and treating XLMR

The research being conducted by Guy Froyen and his colleagues presents new possibilities for detecting and treating XLMR. Tests can now be designed with which scientists can look for duplication of, and defects in, HSD17B10 and HUWE1. Developing a new treatment for XLMR, however, will require further research. Scientists must first gain greater insight into the role these proteins play in the body, and more specifically, in the brain. Research models are now being set up for this effort.

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