Project Detail
Interagency Autism Coordinating Committee (IACC) logo
Office of Autism Research Coordination (OARC) logo

A mitochondrial etiology of autism  

A comparative genomic hybridization (CGH) analysis of the DNA from an autism spectrum disorder (ASD) lymphoblastoid cell line has revealed multiple copy number variants (CNVs) that impact nuclear DNA (nDNA) mitochondrial genes, with many of the CNVs found within the mitochondrial genes. Alterations in the mitochondrial DNA (mtDNA) were also found. To determine if a subset of ASD is caused by mitochondrial dysfunction, this research will survey patient lymphoblastoid cell lines for those harboring nDNA CNVs or mtDNA mutations that alter mitochondrial genes. Cell lines from patients with the mutations will be tested for the expected mitochondrial function. If mitochondrial defects are found, selected patients will be tested using non-invasive biophysical and biochemical tools to determine if they manifest a functional mitochondrial defect. Demonstration that a subset of ASD patients harbor mitochondrial defects would suggest new approaches for the treatment of this class of ASDs. Project Status


Funder National Institutes of Health
Fiscal Year Funding $657,793.00
Current Award Period 2009-2011
Project Number 7R01NS070298-02
Principal Investigator Wallace, Douglas
Received ARRA Funding? Yes
Strategic Plan Question Question 2: How Can I Understand What Is Happening? (Biology)
Subcategory Immune/Metabolic Pathways
Strategic Plan Objective Green dot: Objective has greater than or equal to the recommended funding. 2SA. Support at least four research projects to identify mechanisms of fever, metabolic and/or immune system interactions with the central nervous system that may influence ASD during prenatal-postnatal life by 2010. IACC Recommended Budget: $9,800,000 over 4 years. (Fever studies to be started by 2012.)
Federal or Private? Federal
Institution Children's Hospital of Philadelphia
State/Country Pennsylvania
Web Link 1 A mitochondrial etiology of autism (External web link)
Web Link 2 No URL available.
Web Link 3 No URL available.
History/Related Projects A mitochondrial etiology of autism | $597,884.00 | 2009 | 1R01NS070298-01