Forum for Science, Industry and Business

Sponsored by:     3M 
Search our Site:

 

Scientists advance understanding of the role of a key brain protein in autism

20.07.2005


Results of a genetic linkage analysis of PRKCB1 with autism published



Scientists working at IntegraGen SA, the personalized medicines company, have shown that variations in the gene for protein kinase C beta 1 (PRKCB1), a protein with an important role in brain function, are strongly associated with autism. This exciting finding suggests some answers to a number of previous, but unexplained, observations about autism and provides the potential for a mechanistic explanation for some of the characteristics of the condition. The results of the study are published today in the journal Molecular Psychiatry.

The PRKCB1 gene is expressed in the granule cells within the cerebellum (a region of the brain) where the PRKCB1 protein plays a central role in the transmission of signals by the granule cells to the Purkinje cells. It has previously been reported that there is a decreased number of both granule and Purkinje cells in the brains of autistic individuals and the association of PRKCB1 with autism reported in this study indicates that the cerebellum may play a key role in many of the brain activities that are impaired in autism. Another intriguing observation is that studies using animal models have shown that PRKCB1 is involved in auditory reversal learning. Considered in light of IntegraGen’s results, this suggests that deficiency of the protein might lead to the impairment of this learning capacity, as is frequently seen in autism.


“This is the first time that the protein PRKCB1, and the brain functions it is involved with, have been associated with autism,” explained Dr Jorg Hager, Chief Scientist at IntegraGen. “For this reason, we think that this is a significant development in the field of autism research and we hope it will make an important contribution to understanding the causes of the condition.”

Autism is a complex genetic disorder and it is believed that the combined action of a number of genes may increase a person’s susceptibility to the condition. Genetic researchers at IntegraGen have been using the Company’s novel GenomeHIP™ method to identify genes associated with autism. The Company has so far identified 12 regions of the genome linked to autism and, within those, has been able to specifically identify the region coding for PRKCB1. Work is continuing to identify further genes associated with autism within those loci identified.

As has been shown with this study, IntegraGen’s work to identify the genes involved in autism will contribute towards understanding the mechanisms behind the disease. IntegraGen plans to use its knowledge of the genetic risk factors to develop a genetic risk assessment test for the condition, based on the PRKCB1 and additional genes which it hopes to launch in 2006. The Company envisages that this will be used to help confirm diagnosis and to help patients and families better understand the condition and its causes. They hope that it may also prove to be a useful tool in assessing the risk of the condition developing when a child is still too young to show clear symptoms, so that informed decisions can be made by clinicians as to the use of interventional therapies as early and as appropriately as possible, at a time when they are known to be most effective.

Rowan Minnion | alfa
Further information:
http://www.nature.com/mp/index.html

More articles from Studies and Analyses:

nachricht Real-time feedback helps save energy and water
08.02.2017 | Otto-Friedrich-Universität Bamberg

nachricht The Great Unknown: Risk-Taking Behavior in Adolescents
19.01.2017 | Max-Planck-Institut für Bildungsforschung

All articles from Studies and Analyses >>>

The most recent press releases about innovation >>>

Die letzten 5 Focus-News des innovations-reports im Überblick:

Im Focus: Researchers Imitate Molecular Crowding in Cells

Enzymes behave differently in a test tube compared with the molecular scrum of a living cell. Chemists from the University of Basel have now been able to simulate these confined natural conditions in artificial vesicles for the first time. As reported in the academic journal Small, the results are offering better insight into the development of nanoreactors and artificial organelles.

Enzymes behave differently in a test tube compared with the molecular scrum of a living cell. Chemists from the University of Basel have now been able to...

Im Focus: Safe glide at total engine failure with ELA-inside

On January 15, 2009, Chesley B. Sullenberger was celebrated world-wide: after the two engines had failed due to bird strike, he and his flight crew succeeded after a glide flight with an Airbus A320 in ditching on the Hudson River. All 155 people on board were saved.

On January 15, 2009, Chesley B. Sullenberger was celebrated world-wide: after the two engines had failed due to bird strike, he and his flight crew succeeded...

Im Focus: Breakthrough with a chain of gold atoms

In the field of nanoscience, an international team of physicists with participants from Konstanz has achieved a breakthrough in understanding heat transport

In the field of nanoscience, an international team of physicists with participants from Konstanz has achieved a breakthrough in understanding heat transport

Im Focus: DNA repair: a new letter in the cell alphabet

Results reveal how discoveries may be hidden in scientific “blind spots”

Cells need to repair damaged DNA in our genes to prevent the development of cancer and other diseases. Our cells therefore activate and send “repair-proteins”...

Im Focus: Dresdner scientists print tomorrow’s world

The Fraunhofer IWS Dresden and Technische Universität Dresden inaugurated their jointly operated Center for Additive Manufacturing Dresden (AMCD) with a festive ceremony on February 7, 2017. Scientists from various disciplines perform research on materials, additive manufacturing processes and innovative technologies, which build up components in a layer by layer process. This technology opens up new horizons for component design and combinations of functions. For example during fabrication, electrical conductors and sensors are already able to be additively manufactured into components. They provide information about stress conditions of a product during operation.

The 3D-printing technology, or additive manufacturing as it is often called, has long made the step out of scientific research laboratories into industrial...

All Focus news of the innovation-report >>>

Anzeige

Anzeige

Event News

Booth and panel discussion – The Lindau Nobel Laureate Meetings at the AAAS 2017 Annual Meeting

13.02.2017 | Event News

Complex Loading versus Hidden Reserves

10.02.2017 | Event News

International Conference on Crystal Growth in Freiburg

09.02.2017 | Event News

 
Latest News

A better way to measure the stiffness of cancer cells

01.03.2017 | Health and Medicine

Exploring the mysteries of supercooled water

01.03.2017 | Physics and Astronomy

Research team of the HAW Hamburg reanimated ancestral microbe from the depth of the earth

01.03.2017 | Life Sciences

VideoLinks
B2B-VideoLinks
More VideoLinks >>>