lederr

New autism research (with promising findings…)

In Autism Spectrum Disorders, Neuroscience, Psychiatry on Tuesday, 18 September 2012 at 16:24

some promising new studies on autism.  the first discusses the development of a genetic test that may be able to predict the risk of developing an asd.  while gene studies bring up both ethical and moral concerns for some, the findings and possible implications can not be dismissed.  the next study discusses the possibility of a drug involving glutamate receptor antagonists as a treatment for asd.  good stuff…ENJOY!

Genetic Test Predicts Risk for Autism Spectrum Disorder

Australian researchers have developed a genetic test that is able to predict the risk of developing autism spectrum disorder (ASD). (Credit: © Lucian Milasan / Fotolia)

ScienceDaily (Sep. 11, 2012) — A team of Australian researchers, led by University of Melbourne has developed a genetic test that is able to predict the risk of developing autism spectrum disorder (ASD).

Lead researcher Professor Stan Skafidas, Director of the Centre for Neural Engineering at the University of Melbourne said the test could be used to assess the risk for developing the disorder. “This test could assist in the early detection of the condition in babies and children and help in the early management of those who become diagnosed,” he said. “It would be particularly relevant for families who have a history of autism or related conditions such as Asperger’s syndrome,” he said.

Autism affects around one in 150 births and is characterized by abnormal social interaction, impaired communication and repetitive behaviours. The test correctly predicted ASD with more than 70 per cent accuracy in people of central European descent. Ongoing validation tests are continuing including the development of accurate testing for other ethnic groups.

Clinical neuropsychologist, Dr Renee Testa from the University of Melbourne and Monash University, said the test would allow clinicians to provide early interventions that may reduce behavioural and cognitive difficulties that children and adults with ASD experience. “Early identification of risk means we can provide interventions to improve overall functioning for those affected, including families,” she said.

A genetic cause has been long sought with many genes implicated in the condition, but no single gene has been adequate for determining risk. Using US data from 3,346 individuals with ASD and 4,165 of their relatives from Autism Genetic Resource Exchange (AGRE) and Simons Foundation Autism Research Initiative (SFARI), the researchers identified 237 genetic markers (SNPs) in 146 genes and related cellular pathways that either contribute to or protect an individual from developing ASD.

Senior author Professor Christos Pantelis of the Melbourne Neuropsychiatry Centre at the University of Melbourne and Melbourne Health said the discovery of the combination of contributing and protective gene markers and their interaction had helped to develop a very promising predictive ASD test.

The test is based on measuring both genetic markers of risk and protection for ASD. The risk markers increase the score on the genetic test, while the protective markers decrease the score. The higher the overall score, the higher the individual risk.

“This has been a multidisciplinary team effort with expertise across fields providing new ways of investigating this complex condition,” Professor Pantelis said.

The study was undertaken in collaboration with Professor Ian Everall, Cato Chair in Psychiatry and Dr Gursharan Chana from the University of Melbourne and Melbourne Health, and Dr Daniela Zantomio from Austin Health.

The next step is to further assess the accuracy of the test by monitoring children who are not yet diagnosed over an extended study. The study has been published today in the journal Molecular Psychiatry.


Story Source:

The above story is reprinted from materials provided by University of Melbourne.

Note: Materials may be edited for content and length. For further information, please contact the source cited above.

University of Melbourne (2012, September 11). Genetic test predicts risk for autism spectrum disorder. ScienceDaily. Retrieved September 18, 2012, from http://www.sciencedaily.com­ /releases/2012/09/120912093827.htm?goback=.gde_2514160_member_163245605

Retrieved from: http://www.sciencedaily.com/releases/2012/09/120912093827.htm?goback=.gde_2514160_member_163245605

***

Disorder of Neuronal Circuits in Autism is Reversible

14 September 2012 08:43 Universität Basel

People with autism suffer from a pervasive developmental disorder of the brain that becomes evident in early childhood. Peter Scheiffele and Kaspar Vogt, Professors at the Biozentrum of the University of Basel, have identified a specific dysfunction in neuronal circuits that is caused by autism. In the respected journal „Science“, the scientists also report about their success in reversing these neuronal changes. These findings are an important step in drug development for the treatment for autism.

According to current estimates, about one percent of all children develop an autistic spectrum disorder. Individuals with autism may exhibit impaired social behavior, rigid patterns of behavior and limited speech development. Autism is a hereditary developmental disorder of the brain. A central risk factor for the development of autism are numerous mutations in over 300 genes that have been identified, including the gene neuroligin-3, which is involved in the formation of synapses, the contact junction between nerve cells.

Loss of neuroligin-3 interferes with neuronal signal transmission

The consequences of neuroligin-3 loss can be studied in animal models. Mice lacking the gene for neuroligin-3 develop behavioral patterns reflecting important aspects observed in autism. In collaboration with Roche the research groups from the Biozentrum at the University of Basel have now identified a defect in synaptic signal transmission that interferes with the function and plasticity of the neuronal circuits. These negative effects are associated with increased production of a specific neuronal glutamate receptor, which modulates the signal transmission between neurons. An excess of these receptors inhibits the adaptation of the synaptic signal transmission during the learning process, thus disrupting the development and function of the brain in the long term.

Of major importance is the finding that the impaired development of the neuronal circuit in the brain is reversible.  When the scientists reactivated the production of neuroligin-3 in the mice, the nerve cells scaled down the production of the glutamate receptors to a normal level and the structural defects in the brain typical for autism disappeared. Hence, these glutamate receptors could be a suitable pharmacological target in order to stop the developmental disorder autism or even reverse it.

Vision for the future: Medication for autism

Autism currently cannot be cured.  At present, only the symptoms of the disorder can be alleviated through behavioral therapy and other treatment. A new approach to its treatment, however, has been uncovered through the results of this study. In one of the European Union supported projects, EU-AIMS, the research groups from the Biozentrum are working in collaboration with Roche and other partners in industry on applying glutamate receptor antagonists for the treatment of autism and hope, that in the future, this disorder can be treated successfully in both children and adults.

http://www.unibas.ch/index.cfm?uuid=BF9F46B0ADFE4138B2556373D7286FD5&type=search&show_long=1

  • Full bibliographic information: Baudouin S. J., Gaudias J., Gerharz S., Hatstatt L., Zhou K., Punnakkal P., Tanaka K. F., Spooren W., Hen R., De Zeeuw C.I., Vogt K., Scheiffele K.
    Shared Synaptic Pathophysiology in Syndromic and Non-syndromic Rodent Models of Autism
    Science; Published online September 13 (2012) | doi: 10.1126/science.1224159

 

Advertisements

Thanks for your comments!

Please log in using one of these methods to post your comment:

WordPress.com Logo

You are commenting using your WordPress.com account. Log Out / Change )

Twitter picture

You are commenting using your Twitter account. Log Out / Change )

Facebook photo

You are commenting using your Facebook account. Log Out / Change )

Google+ photo

You are commenting using your Google+ account. Log Out / Change )

Connecting to %s

%d bloggers like this: