INNOVATION:  Researchers in the Department of Neurology and the Autism Center in the Semel Institute at UCLA have identified genetic factors which are associated with autism. Researchers performed genome-wide expression profiling of lymphoblasts from individuals who had either the fragile X mutation (FMR) or 15q11-13 duplication (d15q) and the diagnosis of autism. Dysregulation of two genes were found in common between the FMR and d15q mutations, and were verified in vitro and in vivo models of autism. Furthermore, these two markers were shown to be dysregulated in males diagnosed with idiopathic autism (without known mutations such as FMR or d15q) relative to their non-affected siblings.

Further validation of the markers are planned in the near future utilizing phenotype and genotype resources of the Autism Genetic Resource Exchange.

POTENTIAL APPLICATIONS 

• Examination of these biomarkers will assist in the identification of children at risk for ASD
• Correlative analysis of ASD and these markers may allow for indication of future treatment
• These biomarkers may help identify pathophysiologic targets for treatment development.

Related Papers (Selected)

• Genome-wide expression profiling of lymphoblastoid cell lines distinguishes different forms of autism and reveals shared pathways. [more]