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Autism Spectrum Disorders Health Center

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Gene May Be Involved in Autism

Researchers Call the Gene 'a Potential Link With Autism'
WebMD Health News
Reviewed by Louise Chang, MD

May 3, 2006 -- A new study shows that a certain gene may be involved in autismautism.

The study, published in Neuron, doesn't prove that that particular gene -- which is called the Pten gene -- causes autism. Many other genetic factors have also been linked to autism, the study also notes.

The study states that when researchers deleted the Pten gene in certain parts of mice's brains, those mice showed some autism-like symptoms, including "abnormal social interaction and exaggerated responses to sensory stimuli."

The Pten gene may be a "potential link to autism," write the researchers. They included Chang-Hyuk Kwon, PhD, and Luis Parada, PhD, of the University of Texas Southwestern Medical Center at Dallas.

Kwon works at the university's Center for Developmental Biology, which Parada directs. Parada also directs the university's Kent Waldrep Center for Basic Research on Nerve Growth and Regeneration.

Studying the Gene

The Pten gene suppresses tumors and has been noted in some people with autism, write Kwon and colleagues. People with Pten gene mutations "are prone to tumors," the researchers write, and may display brain disorders including seizuresseizures and mental retardation.

Kwon's team compared mice without the Pten gene with normal mice. In a university news release, Parada explains that by studying mice lacking the Pten gene, researchers can study specific parts of the brain where the Pten gene is found.

"In diseases where virtually nothing is known, any inroad that gets into at least the right cell or the right biochemical pathway is very important," Parada says.

Study's Findings

Compared with normal mice, those lacking the Pten gene were:

  • Less social
  • Hypersensitive to sensory stimuli, such as a startling noise
  • Less interested in making nests when given nesting material
  • More anxious in 2 out of 3 anxiety tests

Obviously, people don't make nests and aren't exactly like mice. However, the researchers saw some parallels between autism and some of the behavior of the mice lacking the Pten gene.

"We found that mutant mice exhibit a distinct pattern of behavioral abnormalities reminiscent of ASD [autism spectrum disorder]," write Kwon and colleagues. The researchers note that they don't understand exactly what role the Pten gene may play in those behaviors.

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