Navigation Links
Newly discovered gene variants lead to autism and mental retardation
Date:5/25/2010

Researchers working with Professor Gudrun Rappold, Director of the Department of Molecular Human Genetics at Heidelberg University Hospital, have discovered previously unknown mutations in autistic and mentally impaired patients in what is known as the SHANK2 gene, a gene that is partially responsible for linking nerve cells. However, a single gene mutation is not always enough to trigger the illness. In some cases, a certain threshold of mutation must be exceeded. The researchers conclude from their results that a correct inner structure of the nerve cell synapses is necessary to enable the normal development of language, social competence, and cognitive capacity. Essential for the success of the project were the studies by the Heidelberg research team with the doctoral student Simone Berkel and collaboration with a Canadian research team headed by Steve Scherer. The study has already been published online in the leading scientific journal Nature Genetics.

Autism is a congenital perception and information-processing disorder of the brain that is often associated with low intelligence, but also with above-average intelligence. The disease is characterized by limited social communication and stereotypical or ritualized behavior. Men are affected much more frequently than women. Autism and mental retardation can occur together but also independently of one another and are determined to a great extent by hereditary factors. Some of the responsible genes have already been identified but the precise genetic mechanisms have not yet been explained.

Genetic makeup of hundreds of patients analyzed

Professor Rappold and her team focused their studies on the SHANK2 gene, which encodes a structural protein at the nerve cell synapses. It is responsible for the mesh structure of the basic substance in the postsynapse. Only when the postsynapse is properly structured can nerve impulses be correctly transmitted. The researchers analyz
'/>"/>

Contact: Dr. Gudrun A. Rappold
gudrun_rappold@med.uni-heidelberg.de
49-62-215-65059
University Hospital Heidelberg
Source:Eurekalert

Page: 1 2

Related biology news :

1. Newly created cancer stem cells could aid breast cancer research
2. Newly-identified exercise gene could help with depression
3. Newly defined signaling pathway could mean better biofuel sources
4. Newly identified role for power plants in human cells could lead to targeted therapies
5. Death, division or cancer? Newly discovered checkpoint process holds the line in cell division
6. Newly described dragon protein could be key to bird flu cure
7. Leatherback turtles newly discovered migration route may be roadmap to salvation
8. Newly discovered monkey is threatened with extinction
9. Newly discovered molecular switch helps decide cell type in early embryo development
10. Genes newly explained effect on height may change tumor disorder treatment
11. Newly-discovered mechanism can explain the Beckwith-Wiedemann syndrome
Post Your Comments:
*Name:
*Comment:
*Email:
(Date:7/10/2014)... Foundation, a nonprofit organization funding cutting-edge, innovative research ... glaucoma and macular degeneration, today announced the recipients ... scientists in 19 U.S. states, the District of ... . , With these latest grants, BrightFocus ... research funding in 2014. , The research projects ...
(Date:7/10/2014)... ANN ARBOR Because the strong currents in the ... rupture of the oil pipeline beneath the channel would ... and Huron, according to a new University of Michigan ... one scenario examined in the study and accompanying animations, ... and Round Island after 12 hours and Bois Blanc ...
(Date:7/10/2014)... University Medical Center (CUMC) researchers have created a way ... pigmentosa (RP), a leading cause of vision loss. The ... induced pluripotent stem (iPS) cell technology to transform skin ... a patient-specific model for disease study and preclinical testing. ... Tsang, MD, PhD, showed that a form of RP ...
Breaking Biology News(10 mins):BrightFocus Foundation announces 55 new grantees in Alzheimer's and vision research 2BrightFocus Foundation announces 55 new grantees in Alzheimer's and vision research 3Straits of Mackinac 'worst possible place' for a Great Lakes oil spill 2Straits of Mackinac 'worst possible place' for a Great Lakes oil spill 3Patient-specific stem cells and personalized gene therapy 2Patient-specific stem cells and personalized gene therapy 3
... nerve cell degeneration plays a crucial role. In the future, ... generation and/or migration mechanism. These findings have been published in ... . Until only a few years ago, neurogenesis the ... impossible in the adult brain. The textbooks asserted that dead ...
... Yehezkel Ben-Ari, winner of the 2009 Inserm Grand Prix. ... to paying tribute to outstanding,work performed in its laboratories ... diversity and wealth of activities involved in today,s biological, ... the men and women who carry out and,drive this ...
... world first, a Monash University-led international research team has ... the next generation of solar cells. Scientists at ... of Wollongong and Ulm in Germany, have produced tandem ... conversion efficiency compared with previously reported tandem dye-sensitised solar ...
Cached Biology News:New source discovered for the generation of nerve cells in the brain 2Yehezkel Ben-Ari, winner of the 2009 INSERM Grand Prix 2Yehezkel Ben-Ari, winner of the 2009 INSERM Grand Prix 3Innovation puts next-generation solar cells on the horizon 2
(Date:1/15/2014)... 15, 2014 TaiGen Biotechnology Company, Limited ("TaiGen") today ... R-Pharm, a leading Russian pharmaceutical company, to develop and ... Russian Federation , Turkey ... is a novel antibiotic for the treatment of bacterial ...
(Date:1/14/2014)... 2014  3D Communications, a leading provider of strategic communications services to ... events in the United States and ... Cox , JD, is returning to the firm,s Washington, ... 3D after more than two years of service as Associate Commissioner ...
(Date:1/14/2014)... SAN DIEGO and BETHESDA, Md. ... they are joining together with two institutes from the ... more reliable tools for bringing safer, more effective treatments ... with the National Center for Advancing Translational Sciences (NCATS) ...
(Date:1/14/2014)... Rockville, MD (PRWEB) January 14, 2014 ... dedicated to developing innovative information technology solutions for ... other health care stakeholders, announced today the signing ... the US Food and Drug Administration (FDA). ...
Breaking Biology Technology:TaiGen Biotechnology Signed Exclusive License Agreement with R-Pharm for Nemonoxacin (Taigexyn(R)) 2TaiGen Biotechnology Signed Exclusive License Agreement with R-Pharm for Nemonoxacin (Taigexyn(R)) 3TaiGen Biotechnology Signed Exclusive License Agreement with R-Pharm for Nemonoxacin (Taigexyn(R)) 4Former FDA Associate Commissioner Returns To 3D Communications 2Organovo Announces Collaboration with National Institutes of Health 2Organovo Announces Collaboration with National Institutes of Health 3Global Record Systems Announces Research Collaboration Agreement with FDA to Create a Novel “Big Data” Paradigm for Collection of Patient Safety and Outcomes Information 2
... a unit of Fiserv, Inc. , and Union ... iLINK Remote Deposit product to the bank's commercial banking customers. ... for remote corporate capture and deposit services, allows commercial banking ... directly from their offices, eliminating trips to the branch and ...
... Software, Inc . has entered into agreements to provide its ... for whom it may become a key retention tool. ... parts of the bundle play a role in staff recruitment ... nursing shortages. , ,Shift bidding, for example, has become ...
... Wis. - The Wisconsin Angel Network , hoping ... new ePlan system to enable companies to use rich media ... ePlan, which uses Mediasite technology from Sonic Foundry , ... effort and expense. For about the cost of an airplane ...
Cached Biology Technology:Medical software may be a retention tool 2Angel network introduces ePlan 2
Protein Marker Detection Pack contains biotinylate...
This antibody is specific for human J-chain as defined by ELISA assay using purified human immunoglobulin fragments as solid phase target antigen....
UltraMount is formulated for coverslipping sections stained with alcohol soluble chromogens, such as Fast-Red or AEC. No heating is required prior to use. Coverslips may be removed by soaking in wate...
This monoclonal antibody specifically recognizes Y. pestiscapsular F1 antigen. It does not cross-react with Y. pseudotuberculosisor Y. enterocolitica....
Biology Products: