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:7/30/2015)... MOUNTAIN VIEW, Calif. , July 30, 2015 ... products and services for gene function analysis and ... CRISPR Guide RNA (sgRNA) Knockout Library targeting all ... to specifically and permanently "knock out" a gene,s ... library provides a high throughput screening tool so ...
(Date:7/23/2015)... July 23, 2015 Aware, Inc. (NASDAQ: AWRE ... reported financial results for its second quarter ended June 30, ... 2015 was $4.5 million, a decrease of 33% compared to ... in the second quarter of 2015 was $0.3 million, or ... $0.04 per diluted share, in the same period a year ...
(Date:7/21/2015)... Connecticut , July 21, 2015  NXT-ID, ... "Company"), a biometric authentication company focused on the ... Wocket® smart wallet, announces that it has filed ... System and Method. This invention ... not only authorizes an account, but also the ...
Breaking Biology News(10 mins):CELLECTA, INC. Announces Launch of Human Whole Genome CRISPR Knockout Library 2Aware, Inc. Reports Second Quarter 2015 Financial Results 2Aware, Inc. Reports Second Quarter 2015 Financial Results 3Aware, Inc. Reports Second Quarter 2015 Financial Results 4Aware, Inc. Reports Second Quarter 2015 Financial Results 5Aware, Inc. Reports Second Quarter 2015 Financial Results 6NXT-ID Patents Personalized Tokenized Payments for Next Generation Secure Payment Technology 2NXT-ID Patents Personalized Tokenized Payments for Next Generation Secure Payment Technology 3NXT-ID Patents Personalized Tokenized Payments for Next Generation Secure Payment Technology 4
... pair of proteins that work in concert to restart the ... The Hawley Lab has described the dual actions ... awakens the long-dormant egg, allowing for production of a mature ... 4, 2007 issue of PLoS Biology. The long ...
... from the John Innes Centre have proven that by ... and delivering it with an existing antibiotic they can ... transfer company PBL, the scientists have launched a spin-out ... The DNA sequence acts as a decoy, disrupting gene ...
... severe weather and climate change joined forces to study ... severe storms in the future and discovered a dramatic ... the United States. The Purdue University-led team used ... formation of severe thunderstorms - those that produce flooding, ...
Cached Biology News:Stowers Institute's Hawley Lab identifies factors responsible for restart of meiotic cycle 2Decoy makes sitting duck of superbugs 2Research forecasts increased chances for stormy weather 2Research forecasts increased chances for stormy weather 3Research forecasts increased chances for stormy weather 4Research forecasts increased chances for stormy weather 5
(Date:7/30/2015)... , July 30, 2015 AACC ... to the 2015 AACC Annual Meeting & Clinical ... from July 26–30. The meeting showcased revolutionary advancements ... the ability of healthcare providers to diagnose patients ... effective medical treatment. As of ...
(Date:7/30/2015)... VANCOUVER, Washington , July 30, 2015 ... "Biosimulation Market, by Product (Software, Molecular Modeling, PB/PK, PKPD, ... (Drug Discovery & Development, Preclinical, Clinical Trial), by End ... the Biosimulation Market is expected to reach USD 2,107.99 ... at a CAGR of 15.29%. Browse ...
(Date:7/30/2015)... globe, ISN improves the efficiency and effectiveness of contractor management systems. ISN,s online contractor ... in over 80 countries. ... ... Over 60,000 Worldwide Customers In More Than 80 Countries ... Dallas, TX , ISN has additional offices in Calgary , ...
(Date:7/30/2015)... ... 30, 2015 , ... As part of its 2015 growth plan and as a follow up ... business units, Whitehouse Laboratories is pleased to announce that it has begun construction on ... of Excellence and will be strictly dedicated to basic USP 51, USP 61, and USP ...
Breaking Biology Technology:Innovative Research on Cancer, Heart Disease, and Infectious Diseases Draws More than 17,500 Attendees to 2015 AACC Annual Meeting 2Innovative Research on Cancer, Heart Disease, and Infectious Diseases Draws More than 17,500 Attendees to 2015 AACC Annual Meeting 3Innovative Research on Cancer, Heart Disease, and Infectious Diseases Draws More than 17,500 Attendees to 2015 AACC Annual Meeting 4Biosimulation Market Worth 2,107.99 Million USD by 2020 2Biosimulation Market Worth 2,107.99 Million USD by 2020 3Biosimulation Market Worth 2,107.99 Million USD by 2020 4ISN Reaches Over 60,000 Worldwide Customers 2ISN Reaches Over 60,000 Worldwide Customers 3Whitehouse Labs Formally Announces Plans to Open a Microbiological Laboratory 2
... VIENNA, Va., June 4 In response to ... is providing an,update on the construction of its ... built out, will comprise 73,000 square,feet and will ... product. This dedicated facility will produce the Multikine ...
... Research, MELVILLE, N.Y., June 4 ... University,s Feinberg School of,Medicine announced the opening ... a partnership that brings improved research,capabilities to ... development. One of only three such centers ...
... (OTC Bulletin Board: BSTC.OB) today announced that it,sold ... at $13 per,share with aggregate proceeds to BioSpecifics ... group on May 30, 2008. The shares were ... premium over the market price., BioSpecifics Technologies ...
Cached Biology Technology:CEL-SCI CORPORATION Manufacturing Facility for Pivotal Phase III Cancer Trial Scheduled to Be Completed During 2008 Third Quarter 2CEL-SCI CORPORATION Manufacturing Facility for Pivotal Phase III Cancer Trial Scheduled to Be Completed During 2008 Third Quarter 3Nikon Instruments Opens New Imaging Center at Northwestern University 2Nikon Instruments Opens New Imaging Center at Northwestern University 3
Monoclonal mouse antibody for immunihistology, clone AD12, Isotype IgG 1, purified, specific for rat pyruvatekinase type L, no cross-reactivities with other pyruvate kinase isoenzymes have been obser...
For testing the AQUA technique on your MS instruments....
A robust formulation of Taq Polymerase supplied with a 10X colored reaction buffer which allows Direct Gel-Loading...
... Dinitro-5,5'-dithiodibenzoic acid , DTNB , Ellman's reagent ... , *CAS-No.: 69-78-3 *Storage: RT, ... a reactive grouping not present in the substrate, ... which will react directly with the product to ...
Biology Products: