Accession Number : ADA631878


Title :   A Collaborative Translational Autism Research Program for the Military


Descriptive Note : Final rept. Sep 2012-Dec 2015


Corporate Author : NATIONWIDE CHILDREN'S HOSPITAL COLUMBUS OH RESEARCH INST


Personal Author(s) : Herman, Gail E ; Hansen-Kiss, Emily ; Sadee, Wolfgang ; Barrie, Elizabeth


Full Text : https://apps.dtic.mil/dtic/tr/fulltext/u2/a631878.pdf


Report Date : 26 Feb 2016


Pagination or Media Count : 35


Abstract : The central hypothesis for the proposed research is that a collaborative translational autism research program with the military will result in the improved diagnosis and care of those enrolled in the study and enhance biomedical research on the diagnosis, causes, and treatment of autism spectrum disorders (ASD), in general. With approved revised Specific Aims, during this project, we enrolled 65 families (259 individuals) in the existing Central Ohio Registry for Autism, including 26 families from Wright-Patterson Air Force Base. Ninety-six percent of these families had a chromosomal microarray analysis performed. Exome sequencing was performed on 210 individuals from Autism I and II with the identification of 7 clinically relevant likely pathogenic variants in probands related to their ASD diagnosis. Transcriptome analysis and subsequent analysis in Central Ohio Registry for Autism trios of 14 single nucleotide polymorphisms in relevant genes found a significant association between a variant in the serotonin receptor 2A gene that modulates its expression. Preliminary data also suggest an association between ASD and the immune-related genes C4A and DEFA3. Finally, using a mouse model for an X-linked gene involved in cholesterol synthesis, we demonstrated behavioral abnormalities consistent with a role for the pathway in neural development and, perhaps, ASD.


Descriptors :   *MENTAL DISORDERS , ABNORMALITIES , BEHAVIOR , BIOMEDICINE , CELLS(BIOLOGY) , CHOLESTEROL , CLINICAL MEDICINE , DEOXYRIBONUCLEIC ACIDS , DIAGNOSIS(MEDICINE) , LEARNING DISABILITIES , MEDICAL RESEARCH , MICE , NEOPLASMS , PATHOGENESIS , PHOSPHATASES , POLYMORPHISM , QUESTIONNAIRES , SEROTONIN , STATISTICAL ANALYSIS , TRANSCRIPTION(GENETICS)


Subject Categories : Psychology
      Biochemistry
      Genetic Engineering and Molecular Biology
      Medicine and Medical Research


Distribution Statement : APPROVED FOR PUBLIC RELEASE