Preclinical study by Roche and University of Basel researchers shows neuronal changes in the brain can be reversed to treat autism
Findings published in respected journal Science seen as important step in drug development for the treatment for autism
NUTLEY, NJ – September 14, 2012 -- Roche (SIX: RO, ROG; OTCQX: RHHBY) and the Biozentrum of the University in Basel today announced the publication of a preclinical study identifying a specific dysfunction in neuronal circuits that is caused by autism. The study1 will be published in the October 5 issue of Science.
People with autism suffer from a pervasive developmental disorder of the brain that becomes evident in early childhood. 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. A central risk factor for the development of autism is the numerous mutations in over 300 candidate genes that have been identified, including the gene neuroligin-3.
“Neuroligin-3 is involved in the formation of synapses, the contact junctions between nerve cells. In studies using neuroligin-3 knockout mice we have now identified a defect in synaptic signal transmission that interferes with the function and plasticity of neuronal circuits. These negative effects are associated with increased production of a specific glutamate receptor, mGlu1, which modulates signal transmission between neurons. An excess of these receptors inhibits the adaptation of synaptic signal transmission during the learning process, thus disrupting the development and function of the brain in the long term,” said Peter Scheiffele, Professor at the University of Basel Biozentrum and lead investigator of the study.
When production of neuroligin-3 in the mice was reactivated, the nerve cells scaled down the production of the glutamate receptor mGlu1 to a normal level, and structural defects in the brain typical of autism disappeared.
“These findings represent a significant step in enabling the identification of medicines for autism and highlight the pivotal role of public–private partnerships in advancing our understanding of this complex disease.” said Luca Santarelli, Head of Neuroscience Research at Roche. “These results are of major importance because they support the notion that, although many genes are involved in autism, there is a convergence at the level of the synapse which can be targeted for therapeutics.”
Autism currently cannot be cured. At present, only the symptoms of the disorder can be alleviated through behavioral therapy and other treatment.
In EU-AIMS, a project supported by European Union, research groups from Roche and the Biozentrum are working in collaboration with partners in industry to evaluate the potential of using glutamate receptor antagonists in the treatment of autism.
Headquartered in Basel, Switzerland, Roche is a leader in research-focused healthcare with combined strengths in pharmaceuticals and diagnostics. Roche is the world’s largest biotech company with truly differentiated medicines in oncology, virology, inflammation, metabolism and CNS. Roche is also the world leader in in-vitro diagnostics, tissue-based cancer diagnostics and a pioneer in diabetes management. Roche’s personalized healthcare strategy aims at providing medicines and diagnostic tools that enable tangible improvements in the health, quality of life and survival of patients. In 2011, Roche had over 80,000 employees worldwide and invested over 8 billion Swiss francs in R&D. The Group posted sales of 42.5 billion Swiss francs. Genentech, headquartered in the United States, is a wholly owned member of the Roche Group. Roche has a majority stake in Chugai Pharmaceutical, Japan. For more information: www.roche.com.
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The study, “Shared Synaptic Pathophysiology in Syndromic and Non-syndromic Rodent Models of Autism” can be accessed here: http://www.sciencemag.org/content/early/2012/09/12/science.1224159.full?sid=c1926940-d35c-491b-ab03-31a7af0105aa
 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. (2012) Shared Synaptic Pathophysiology in Syndromic and Non-syndromic Rodent Models of Autism. Science; Published online September 13, 2012