Navigation Links
Too much protein HUWE1 causes intellectual disability
Date:8/31/2012

2 to 3 % of the children are born with an intellectual disability. Possibly by a genetic defect, but in 80% of these cases, we do not know yet - which genes are responsible. VIB researchers at KU Leuven show that increased production of the HUWE1 protein is the cause in some patients.

Guy Froyen (VIB/KU Leuven): "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."

Defects on the X-chromosome

Intellectual disability can be due to external factors such as lack of oxygen at birth or to defects in the genetic material. In genetic (hereditary) causes, the exact identification of the defect is crucial for the medical supervision of the patient or to estimate the risk when having children. It is estimated that approximately 15% of patients have a defect that lies on the X-chromosome. This is called X-linked 'intellectual disability' (XLID). Despite extensive research, in half of XLID-patients, the responsible gene responsible has not yet been identified.

HUWE1 identified as culprit

Guy Froyen and his colleagues (VIB - KU Leuven) continue their research to find new genes that may cause XLID. Several years ago, they showed that the duplication of a fragment of the X-chromosome leads to a too high concentration of HSD17B10 and HUWE1 proteins.

Guy Froyen: "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. "

Consequences for detecting and treating XLMR

The research by Guy Froyen and his colleagues offers new perspectives for the detection and treatment of XLID. This allows for tests to be designed with which the duplication of and errors in HUWE1 are searched. For the development of a new treatment for XLID, further research is required. First of all, scientists must better understand the role of HUWE1 in the body, more specifically in the brains.


'/>"/>
Contact: Sooike Stoops
sooike.stoops@vib.be
32-474-289-252
VIB (the Flanders Institute for Biotechnology)
Source:Eurekalert

Related biology news :

1. Hulk protein, Grb10, controls muscle growth
2. Collagen-seeking synthetic protein could lead doctors to tumor locations
3. A new look at proteins in living cells
4. Low oxygen levels may decrease life-saving protein in spinal muscular atrophy
5. Molecular and protein markers discovered for liver transplant failure from hepatitis C
6. Method to prevent rejection of disease-fighting proteins described in Human Gene Therapy journal
7. Gene network restores CF protein function
8. Protein involved in DNA replication, centrosome regulation linked to dwarfism, small brain size
9. Long-distance distress signal from periphery of injured nerve cells begins with locally made protein
10. New gene therapy strategy boosts levels of deficient protein in Friedreichs ataxia
11. Key function of protein discovered for obtaining blood stem cells as source for transplants
Post Your Comments:
*Name:
*Comment:
*Email:
(Date:4/13/2017)... , April 13, 2017 UBM,s Advanced Design ... will feature emerging and evolving technology through its ... Summits will run alongside the expo portion of the ... panels and demonstrations focused on trending topics within 3D ... design and manufacturing event will take place June 13-15, 2017 ...
(Date:4/11/2017)... April 11, 2017 Crossmatch®, a globally-recognized ... solutions, today announced that it has been awarded ... Projects Activity (IARPA) to develop next-generation Presentation Attack ... "Innovation has been a driving force within ... will allow us to innovate and develop new ...
(Date:4/11/2017)... , April 11, 2017 No ... but researchers at the New York University Tandon ... of Engineering have found that partial similarities between ... systems used in mobile phones and other electronic ... The vulnerability lies in the fact ...
Breaking Biology News(10 mins):
(Date:10/10/2017)... 10, 2017 SomaGenics announced the receipt of ... develop RealSeq®-SC (Single Cell), expected to be the first ... (including microRNAs) from single cells using NGS methods. The ... to accelerate development of approaches to analyze the heterogeneity ... "New techniques for measuring levels of mRNAs in individual ...
(Date:10/9/2017)... ... , ... The award-winning American Farmer television series will feature 3 Bar Biologics ... at 8:30aET on RFD-TV. , With global population estimates nearing ten billion people ... to feed a growing nation. At the same time, many of our valuable resources ...
(Date:10/7/2017)... ... October 06, 2017 , ... ... applications consulting for microscopy and surface analysis, Nanoscience Instruments is now expanding ... offers a broad range of contract analysis services for advanced applications. Services ...
(Date:10/6/2017)... , ... October 06, 2017 , ... ... a lunch discussion and webinar on INSIGhT, the first-ever adaptive clinical trial for ... Dana-Farber Cancer Institute. The event is free and open to the public, but ...
Breaking Biology Technology: