An intellectual disability is present in 2 to 3% of babies at birth, possibly by a genetic defect, but scientists have been unsure exactly what genes are responsible in 80% of these cases. According to VIB researchers at KU Leuven, the cause in some patients is an increased production of the HUEW1 protein.

Guy Froyen (VIB/KU Leuven) said:

“The fact that HUWE1 regulates the dose of several other proteins in the brains, has an important impact on the quest for new therapies. It would then be possible to intervene in these different proteins. Research into the role of HUWE1 has already started in the lab.”

External factors, such as defects in the genetic material or lack of oxygen at birth, can cause intellectual disability. The precise recognition of the defect is essential for the medical supervision of the patient in hereditary causes, or to approximate the risk when having kids.

Approximately 15% of patients have a defect lying on the X-chromosome called the X-linked ‘intellectual disability’ (XLID). Even after several studies, the responsible gene has not yet been identified in half of XLID-patients.

In order to discover new genes that may be responsible for XLID, Froyen and his team (VIB- KU Leuven) are furthering their studies.

In their previous research, they found evidence that the duplication of a fragment of the X-chromosome results in a too high concentration of the proteins HSD17B10 and HUWE1.

Froyen explained:

“We knew then that these two proteins could play an important role in the (development of) the memory center in the brains, but we did not yet know which gene was the cause for the increased dose of XLID. Through additional research, including the DNA of 6 additional families from Europe, Australia and South Africa, we now know that HUWE1 is the crucial factor, and that a concentration increase of HUWE1 leads to intellectual disability.”

This research is important because it offers new insights for the identification and treatment of XLID, allowing tests to be created with with the duplication of and errors in HUWE1 are searched.

Scientists concluded that further exploration is required in order to develop a new treatment for XLID. A better understanding is needed of the role of HUWE1 in the body, they explained, more specifically in the brains.

Written by Sarah Glynn