Navigation Links
Fragile X and Down syndromes share signalling pathway for intellectual disability
Date:8/3/2012

HEIDELBERG, 3 August 2012 Intellectual disability due to Fragile X and Down syndromes involves similar molecular pathways report researchers in The EMBO Journal. The two disorders share disturbances in the molecular events that regulate the way nerve cells develop dendritic spines, the small extensions found on the surface of nerve cells that are crucial for communication in the brain.

"We have shown for the first time that some of the proteins altered in Fragile X and Down syndromes are common molecular triggers of intellectual disability in both disorders," said Kyung-Tai Min, one of the lead authors of the study and a professor at Indiana University and the Ulsan National Institute of Science and Technology in Korea. "Specifically, two proteins interact with each other in a way that limits the formation of spines or protrusions on the surface of dendrites." He added: "These outgrowths of the cell are essential for the formation of new contacts with other nerve cells and for the successful transmission of nerve signals. When the spines are impaired, information transfer is impeded and mental retardation takes hold."

Intellectual disability is a developmental brain disorder that leads to impaired cognitive performance and mental retardation. Two of the most prevalent genetic causes of intellectual disability in humans are Fragile X and Down syndromes. Fragile X syndrome arises from a single gene mutation that prevents the synthesis of a protein required for neural development (Fragile X mental retardation protein). The presence of all or a part of a third copy of chromosome 21 in cells causes Down syndrome. Although both syndromes arise due to these fundamental genetic differences, the researchers identified a shared molecular pathway in mice that leads to intellectual disability for both disorders.

The mice that were used in the experiments are model systems for the study of Fragile X syndrome and Down syndrome. Down syndrome mice have difficulties with memory and brain function, and the formation of the heart is often compromised, symptoms that are also observed in humans with Down syndrome. Both model systems are very useful to scientists looking to dissect the molecular events that occur as the disorders take hold.

The scientists revealed that the Down syndrome critical region 1 protein (DSCR1) interacts with Fragile X mental retardation protein (FMRP) to regulate dendritic spine formation and local protein synthesis. By using specific antibodies that bind to the proteins as well as fluorescent labeling techniques they showed that DSCR1 specifically interacts with the phosphorylated form of FMRP. The overlapping molecular pathways of intellectual disability in both genetic disorders suggest that a common therapeutic approach might be feasible for both syndromes.

Min remarked: "We believe these experiments provide an important step forward in understanding the multiple roles of DSCR1 in neurons and in identifying a molecular interaction that is closely linked to intellectual disability for both syndromes."

DSCR1 interacts with FMRP and is required for spine morphogenesis and local protein synthesis


'/>"/>
Contact: Barry Whyte
barry.whyte@embo.org
49-622-188-91108
European Molecular Biology Organization
Source:Eurekalert  

Related biology news :

1. Stem cell research paves way for progress on dealing with Fragile X retardation
2. Stanford scientists document fragile land-sea ecological chain
3. A new pipewort species from a unique, but fragile habitat in India
4. Myelodysplastic syndromes (MDS) linked to abnormal stem cells
5. F1000 Research partners with figshare to provide smart ways of accessing data
6. Investigation of American Oriental Bioengineering, Inc. by Securities Lawyers at Goldfarb LLP Law Firm for Potential Shareholder Claim
7. Gut microbes battle a common set of viruses shared by global populations
8. UCSB researchers to examine the effects of year-old NOAA West Coast Catch Shares program
9. Cleveland Clinic researchers receive $5 million grant to discover novel pathways to heart disease
10. Study identifies pathway to enhance usefulness of EGFR inhibitors in lung cancer treatment
11. A new candidate pathway for treating visceral obesity
Post Your Comments:
*Name:
*Comment:
*Email:
Related Image:
Fragile X and Down syndromes share signalling pathway for intellectual disability
(Date:4/14/2016)... Israel , April 14, 2016 ... Authentication and Malware Detection, today announced the appointment of ... assumed the new role. Goldwerger,s leadership appointment ... on the heels of the deployment of its platform ... BioCatch,s behavioral biometric technology, which discerns unique cognitive and ...
(Date:3/29/2016)... BOCA RATON, Florida , March 29, 2016 /PRNewswire/ ... ("LegacyXChange" or the "Company") LegacyXChange "LEGX" and SelectaDNA/CSI Protect ... Synthetic DNA in ink used in a variety of ... preventing theft. Buyers of originally created collectibles from athletes ... authenticity through forensic analysis of the DNA. ...
(Date:3/21/2016)... 22, 2016 Unique technology ... for superior security   Xura, ... of secure digital communications services, today announced it is ... offer enterprise customers, particularly those in the Financial Services ... voice authentication within a mobile app, alongside, and in ...
Breaking Biology News(10 mins):
(Date:5/4/2016)... ... May 04, 2016 , ... ... in biotechnology to help treat hormonal and stress related hair loss. With patent-pending ... the hearts of key opinion leaders in the medical and salon channels nationwide. ...
(Date:5/3/2016)... ... May 03, 2016 , ... Flagship ... Dr. Nancy Gillett to its Board of Directors. Dr. Gillett recently retired from ... Executive Vice President and Chief Scientific Officer. A board-certified veterinary pathologist, Dr. Gillett ...
(Date:5/3/2016)... New York, NY (PRWEB) , ... May 03, 2016 , ... ... Lenox Hill Hospital , for definitive prostate cancer treatment, patients traditionally had two main ... an appropriate treatment plan would be made. , New technology has enabled doctors ...
(Date:5/2/2016)... ... May 02, 2016 , ... F.E.E.D. Co., the Feline ... their revolutionary, veterinarian-designed product for indoor cats. The NoBowl Feeding System replaces the ... food the way nature intended. NoBowls make cats happy and healthy. , Since ...
Breaking Biology Technology: