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

Project Title

Project Title

Gastrointestinal functions in autism

Principal Investigator

Principal Investigator

Duffey, Michael

Description

Description

Autism is defined by behavioral patterns and delays in language development, but chronic gastrointestinal (GI) problems are also seen, like abdominal pain, diarrhea, constipation, esophagitis, and gaseousness. The central hypothesis of this proposal is that altered handling of intracellular calcium ion by GI nerve and muscle causes some of these GI disorders. To study these disorders, we will use a genetically altered mouse that exhibits the rare disorder of Timothy Syndrome (TS). Individuals with TS have a genetic mutation in a cell membrane calcium ion channel, known as Cav1.2. Strikingly, over 80% of patients carrying this mutation have also been diagnosed with autism. No other human mutation shows this high degree of correlation. We hypothesize that this mutation in TS mice will cause nerve and muscle cells to be overloaded with calcium ion. Specifically, we will examine intestinal smooth muscle in TS mice to determine if intracellular calcium ion overload alters its ability to propel food. We will also determine if nerves of the intestine abnormally regulate the absorption processes. Next, we will use molecular biological techniques to identify mutant Cav1.2 channels in intestinal smooth muscle and nerves of TS mice and electro-physiological techniques to determine the mechanisms that lead to altered function of these channels. Study of this unique mouse will provide key insights into the cellular basis of autism and its relationship to GI disorders and will provide a model for testing new therapies.

Funder

Funder

Department of Defense

Fiscal Year Funding

Fiscal Year Funding

0

Current Award Period

Current Award Period

2009-2011

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. 2SE. Launch three studies that target the underlying biological mechanisms of co-occurring conditions with autism, including seizures/epilepsy, sleep disorders, wandering/elopement behavior, and familial autoimmune disorders, by 2012. IACC Recommended Budget: $9,000,000 over 5 years.

Project Link

Project Link

Gastrointestinal functions in autism (External web link)

Institution

Institution

University at Buffalo, The State University of New York

State/Country

State/Country

New York

Project Number

Project Number

AR080107

Federal or Private?

Federal or Private?

Federal

Received ARRA Funding?

Received ARRA Funding?

No

History/Related Projects

History/Related Projects

Gastrointestinal functions in autism | 0 | 2009 | AR080107
Gastrointestinal functions in autism | 0 | 2011 | AR080107

 
Back to Top