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.
Autism is a genetic disorder the etiology of which has yet to be clearly described. Recent evidence suggests that the genetic determinants do not follow simple Mendelian inheritance. Instead, the phenotype of autism appears governed by multiple genetic aberrations which together can variably contribute to the severity of the phenotype. Therefore, the identification and examination of these aberrations at both the genetic and functional level will facilitate in the diagnosis and possible treatment of this disorder.
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.
|United States Of America||Issued Patent||8,173,369||05/08/2012||2007-713|