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


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:

More articles from Studies and Analyses:

nachricht Diagnoses: When Are Several Opinions Better Than One?
19.07.2016 | Max-Planck-Institut für Bildungsforschung

nachricht High in calories and low in nutrients when adolescents share pictures of food online
07.04.2016 | University of Gothenburg

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: New 3-D wiring technique brings scalable quantum computers closer to reality

Researchers from the Institute for Quantum Computing (IQC) at the University of Waterloo led the development of a new extensible wiring technique capable of controlling superconducting quantum bits, representing a significant step towards to the realization of a scalable quantum computer.

"The quantum socket is a wiring method that uses three-dimensional wires based on spring-loaded pins to address individual qubits," said Jeremy Béjanin, a PhD...

Im Focus: Scientists develop a semiconductor nanocomposite material that moves in response to light

In a paper in Scientific Reports, a research team at Worcester Polytechnic Institute describes a novel light-activated phenomenon that could become the basis for applications as diverse as microscopic robotic grippers and more efficient solar cells.

A research team at Worcester Polytechnic Institute (WPI) has developed a revolutionary, light-activated semiconductor nanocomposite material that can be used...

Im Focus: Diamonds aren't forever: Sandia, Harvard team create first quantum computer bridge

By forcefully embedding two silicon atoms in a diamond matrix, Sandia researchers have demonstrated for the first time on a single chip all the components needed to create a quantum bridge to link quantum computers together.

"People have already built small quantum computers," says Sandia researcher Ryan Camacho. "Maybe the first useful one won't be a single giant quantum computer...

Im Focus: New Products - Highlights of COMPAMED 2016

COMPAMED has become the leading international marketplace for suppliers of medical manufacturing. The trade fair, which takes place every November and is co-located to MEDICA in Dusseldorf, has been steadily growing over the past years and shows that medical technology remains a rapidly growing market.

In 2016, the joint pavilion by the IVAM Microtechnology Network, the Product Market “High-tech for Medical Devices”, will be located in Hall 8a again and will...

Im Focus: Ultra-thin ferroelectric material for next-generation electronics

'Ferroelectric' materials can switch between different states of electrical polarization in response to an external electric field. This flexibility means they show promise for many applications, for example in electronic devices and computer memory. Current ferroelectric materials are highly valued for their thermal and chemical stability and rapid electro-mechanical responses, but creating a material that is scalable down to the tiny sizes needed for technologies like silicon-based semiconductors (Si-based CMOS) has proven challenging.

Now, Hiroshi Funakubo and co-workers at the Tokyo Institute of Technology, in collaboration with researchers across Japan, have conducted experiments to...

All Focus news of the innovation-report >>>



Event News

#IC2S2: When Social Science meets Computer Science - GESIS will host the IC2S2 conference 2017

14.10.2016 | Event News

Agricultural Trade Developments and Potentials in Central Asia and the South Caucasus

14.10.2016 | Event News

World Health Summit – Day Three: A Call to Action

12.10.2016 | Event News

Latest News

Resolving the mystery of preeclampsia

21.10.2016 | Health and Medicine

Stanford researchers create new special-purpose computer that may someday save us billions

21.10.2016 | Information Technology

From ancient fossils to future cars

21.10.2016 | Materials Sciences

More VideoLinks >>>