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. "

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

Page: 1 2

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:12/19/2014)... Calif. , Dec. 18, 2014  23andMe, Inc., ... of a study that pinpoints fine-scale differences in genetic ... States . Since immigrants first arrived ... United States has served as a meeting ... how American history and the ongoing mixing of peoples ...
(Date:12/17/2014)... 15, 2014 Research and Markets ... the "Samsung Galaxy S5 - Home Button ... their offering. http://photos.prnewswire.com/prnh/20130307/600769 ... sensing technology than the iPhone 5S, Samsung introduces ... its product. The Galaxy S5 home ...
(Date:12/17/2014)...  HITLAB SM announced today its completion ... confirm its adherence to current U.S. Food and ... to conduct regulated smart device and smart phone ... safety and research quality. "HITLAB is ... delivery with innovative technology," said Laura Pugliese ...
Breaking Biology News(10 mins):23andMe Study Sketches Genetic Portrait of the United States 223andMe Study Sketches Genetic Portrait of the United States 323andMe Study Sketches Genetic Portrait of the United States 4Samsung Galaxy S5 - Home Button Synaptics Fingerprint Sensor Technology Analysis 2HITLAB Completes GCP Audit for FDA Smart Device & App Compliance 2
... infectious question about eating at restaurants: How clean are ... found that even when they washed dishes in cooler-than-recommended ... levels accepted in the Food and Drug Administration's Food ... milk—can be safe havens for bacteria when dried onto ...
... What influence does the variation in estrogen level ... Using functional Magnetic Resonance Imaging, Jean-Claude Dreher, a ... 1), in collaboration with an American team from ... directed by Karen Berman, has identified, for the ...
... patients who received an new intravenous adult stem cell ... such as cardiac arrhythmias, and had significant improvements in ... received a placebo, according to six-month Phase I study ... in Intervention: i2Summit in New Orleans on March 25. ...
Cached Biology News:Manual dishwashing study digs up dirt on dish cleanliness 2Manual dishwashing study digs up dirt on dish cleanliness 3The influence of the menstrual cycle on the female brain 2The influence of the menstrual cycle on the female brain 3The influence of the menstrual cycle on the female brain 4Stem cell therapy shows promise in regenerating damaged muscle in heart attack patients 2
(Date:12/24/2014)... -- China Biologic Products, Inc. (NASDAQ: CBPO, "China ... plasma-based biopharmaceutical company in China ... Taibang Biological Products Co. Ltd., has received Good ... and Drug Administration (the "CFDA") for its new ... the Company,s public filings, the CFDA inspected this ...
(Date:12/24/2014)... -- PharmaBoardroom,s new report, , Healthcare ... for free download , digs deep into this vibrant ... the sector today. One area where ... developing a homegrown pharmaceutical manufacturing base, even if the government,s ... way off. A cursory comparison with neighboring Morocco ...
(Date:12/24/2014)... Fla. , Dec. 23, 2014  Rock Creek ... that it has filed a Clinical Trial Application (CTA) ... Healthcare products Regulatory Agency (MHRA) seeking regulatory approval to ... lead molecule, Anatabine Citrate. Contingent on the ... conduct a Phase I trial to assess the safety, ...
(Date:12/22/2014)... Brussels (PRWEB) December 22, 2014 The ... the global leader of technical training across the life ... Clinical Data Management (SCDM) to provide the organization's ... certification programs —providing access to the more than 350 ... SCDM members with 10% off when registering for a ...
Breaking Biology Technology:China Biologic Receives GMP Certification for New Coagulation Factor Facility 2China Biologic Receives GMP Certification for New Coagulation Factor Facility 3PharmaBoardroom Releases New Algeria Pharmaceuticals Report 2PharmaBoardroom Releases New Algeria Pharmaceuticals Report 3Rock Creek Pharmaceuticals Files Clinical Trial Application in the UK for Clinical Trials of Anatabine Citrate Formulations 2Rock Creek Pharmaceuticals Files Clinical Trial Application in the UK for Clinical Trials of Anatabine Citrate Formulations 3CfPIE Announces Partnership with the Society for Clinical Data Management 2CfPIE Announces Partnership with the Society for Clinical Data Management 3
... 25 Inverness Medical,Innovations, Inc. (Amex: IMA ... products for the consumer and professional markets, announced,today ... Global Healthcare,Unplugged Conference being held April 30 - ... Florida. Ron Zwanziger, Chief Executive Officer, will,attend. His ...
... 25 Abbott,s broad,portfolio of businesses and expanding ... product pipeline provides a,foundation for continued growth as ... Chief Executive Officer Miles D.,White told shareholders today ... an outstanding year for Abbott across all of ...
... -- China Yingxia,International, Inc. (OTC Bulletin Board: ... provider in the nutraceutical industry engaged in ... food,products, supplements, and personal care products in ... that it has formally completed the,acquisition of ...
Cached Biology Technology:Abbott Annual Meeting Highlights Outstanding 2007 Results, International Growth and Near-Term Pipeline 2Abbott Annual Meeting Highlights Outstanding 2007 Results, International Growth and Near-Term Pipeline 3Abbott Annual Meeting Highlights Outstanding 2007 Results, International Growth and Near-Term Pipeline 4China Yingxia International, Inc. Acquires Grocery Chain and Online Distribution Network 2China Yingxia International, Inc. Acquires Grocery Chain and Online Distribution Network 3
Request Info...
Ultra-sensitive, non-radioactive measurement of COX-I and COX-II activity...
Recombinant Ovine (Sheep) Growth Hormone, Ultra Pure...
Mouse Granzyme D MAb (Clone 190617)...
Biology Products: