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Interagency Autism Coordinating Committee (IACC)
Autism Research Database
Office of Autism Research Coordination (OARC)
 
Project Element Element Description

Project Title

Project Title

Mechanisms of mitochondrial dysfunction in autism

Principal Investigator

Principal Investigator

Shoffner, John

Description

Description

Autism spectrum disorder (ASD) children have disturbances in language, perception, and socialization. Defects in oxidative phosphorylation (OXPHOS)/mitochondrial disease impacts cell energy functioning and may be the largest category of gene defects found in ASD, and may help to explain the heterogeneity of neurodevelopmental symptoms and identify a specific ASD subtype. OXPHOS defects can significantly impact brain development and functioning. In two large series, 17% to 20% of ASD patients had blood levels of chemicals suggestive of OXPHOS problems. Some ASD patients have also been reported with defects in their OXPHOS genes. OXPHOS diseases can start at any age and can even be triggered by exposure to certain chemicals, drugs, or stressors. This study will be the first comprehensive investigation of OXPHOS disease in ASD. Our short-term objective is to establish how OXPHOS defects relate to specific neurologic features in ASD, and develop testing that can easily identify ASD patients with OXPHOS, while a long-term goal is to use this information to develop treatment protocols of the dysfunction. We plan to compare 30 children with ASD plus OXPHOS, matched on age/sex/race and symptoms, with 30 children with ASD who have normal OXPHOS function, on neuropsychological tests, brain scans, and biochemical and genetic lab studies using easily accessible skin and blood cells to find the best indicators of OXPHOS genetic defects. This study will provide less invasive and more broadly available indicators of OXPHOS in ASD children, which then can be used in more in-depth studies.

Funder

Funder

Department of Defense - Army

Fiscal Year Funding

Fiscal Year Funding

0

Current Award Period

Current Award Period

2010-2013

Strategic Plan Question

Strategic Plan Question

Question 2: How Can I Understand What Is Happening?

Strategic Plan Objective

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.)

Project Link

Project Link

Mechanisms of mitochondrial dysfunction in autism (External web link)

Institution

Institution

Georgia State University

State/Country

State/Country

Georgia

Project Number

Project Number

AR093329

Federal or Private?

Federal or Private?

Federal

Received ARRA Funding?

Received ARRA Funding?

No

History/Related Projects

History/Related Projects

Mechanisms of mitochondrial dysfunction in autism | 0 | 2010 | AR093329
Mechanisms of mitochondrial dysfunction in autism | 489354 | 2009 | AR093329
Mechanisms of mitochondrial dysfunction in autism | 0 | 2011 | AR093329
Mechanisms of mitochondrial dysfunction in autism | 0 | 2012 | AR093329
Mechanisms of mitochondrial dysfunction in autism | 0 | 2014 | AR093329

 
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