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:4/28/2016)... Sweden , April 28, 2016 First ... M (139.9), up 966% compared with the first quarter of 2015 ... profit totaled SEK 589.1 M (loss: 18.8) and the operating margin ... 7.12 (loss: 0.32) Cash flow from operations was SEK ... The 2016 revenue guidance is unchanged, SEK 7,000-8,500 M. ...
(Date:4/15/2016)... CHICAGO , April 15, 2016  A ... companies make more accurate underwriting decisions in a ... offering timely, competitively priced and high-value life insurance ... health screenings. With Force Diagnostics, rapid ... and lifestyle data readings (blood pressure, weight, pulse, ...
(Date:3/31/2016)... 31, 2016   ... the "Company") LegacyXChange is excited to release ... soon to be launched online site for trading 100% ... ) will also provide potential shareholders a sense of ... to an industry that is notorious for fraud. The ...
Breaking Biology News(10 mins):
(Date:6/24/2016)... ... June 24, 2016 , ... While the majority of ... the Cary 5000 and the 6000i models are higher end machines that use the ... of the spectrophotometer’s light beam from the bottom of the cuvette holder. , ...
(Date:6/23/2016)... ... June 23, 2016 , ... Mosio, a leader ... “Clinical Trials Patient Recruitment and Retention Tips.” Partnering with experienced clinical research professionals, ... providing practical tips, tools, and strategies for clinical researchers. , “The landscape of ...
(Date:6/23/2016)... , June 23, 2016   Boston Biomedical ... novel compounds designed to target cancer stemness pathways, ... been granted Orphan Drug Designation from the U.S. ... of gastric cancer, including gastroesophageal junction (GEJ) cancer. ... designed to inhibit cancer stemness pathways by targeting ...
(Date:6/23/2016)... , June 23, 2016 A person commits a ... crime scene to track the criminal down. An ... Food and Drug Administration (FDA) uses DNA evidence to track ... Sound far-fetched? It,s not. The FDA has increasingly ... support investigations of foodborne illnesses. Put as simply as possible, ...
Breaking Biology Technology: