Navigation Links
Fragile X and Down syndromes share signalling pathway for intellectual disability

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
European Molecular Biology Organization

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:
Related Image:
Fragile X and Down syndromes share signalling pathway for intellectual disability
(Date:11/16/2015)... , Nov 16, 2015  Synaptics Inc. ... human interface solutions, today announced expansion of its ... ™ touch controller and display driver integration ... of smartphones. These new TDDI products add to ... (HD resolution), TD4302 (WQHD resolution), and TD4322 (FHD ...
(Date:11/10/2015)... Nov. 10, 2015  In this report, ... basis of product, type, application, disease indication, ... this report are consumables, services, software. The ... safety biomarkers, efficacy biomarkers, and validation biomarkers. ... are diagnostics development, drug discovery and development, ...
(Date:11/2/2015)... Nov. 2, 2015  SRI International has been awarded ... preclinical development services to the National Cancer Institute (NCI) ... provide scientific expertise, modern testing and support facilities, and ... pharmacology and toxicology studies to evaluate potential cancer prevention ... The PREVENT Cancer Drug Development Program is an NCI-supported ...
Breaking Biology News(10 mins):
(Date:11/24/2015)... Switzerland (PRWEB) , ... November 24, 2015 , ... ... plant and the environment are paramount. Insertion points for in-line sensors can represent ... has developed the InTrac 781/784 series of retractable sensor housings , which ...
(Date:11/24/2015)... 24, 2015 /CNW Telbec/ - ProMetic Life Sciences Inc. (TSX: ... Mr. Pierre Laurin , President and Chief Executive Officer ... upcoming Piper Jaffray 27 th Annual Healthcare Conference to ... 1-2, 2015. st , at 8.50am (ET) ... throughout the day. The presentation will be available live via ...
(Date:11/24/2015)... 2015  PDL BioPharma, Inc. (PDL) (NASDAQ: PDLI ) ... president and chief executive officer, will present at the 27 ... New York City . The presentation will ... 2015 at 9:30 a.m. EST. and ... at least 15 minutes prior to the presentation to allow ...
(Date:11/24/2015)... Nov. 24, 2015 According to two new studies, ... This is something that many doctors, scientists, and public health ... remains: with fewer PSA tests being done, will there be ... Dr. David Samadi, "Despite the efforts made in ... the second leading cancer cause of death in men, killing ...
Breaking Biology Technology: