Aspies For Freedom

Full Version: Autism and Pten gene
You're currently viewing a stripped down version of our content. View the full version with proper formatting.
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.

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 seizures 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.

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.

To test sociability, the researchers presented a newcomer mouse and an empty cage to the mice. The normal mice were more interested in the newcomer mouse than the empty cage, but the mutant mice didn’t show the same preference.

In the anxiety tests, the researchers placed mice in an open space, maze, or boxes that were partly dark and partly lighted. The mice without the Pten gene acted more anxious in the open space and lingered longer in the dark part of the box than the other mice.

When the scientists studied the mice’s brains, they found thicker nerve cells and a higher-than-normal number of connections to other nerve cells in the brains of the mice lacking the Pten gene.

Those brain differences may lead to the sensory overload that people with autism develop, Parada notes in the news release.

The mice without the Pten gene didn’t show any problems with strength or the ability to move, the study also shows.

By Miranda Hitti, reviewed by Louise Chang, MD

Amy Wrote:
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.


This link's also on the subject, Amy (BBC Website)

'...Dr Luis Parada, director of the Centre for Developmental Biology at the University of Texas Southwestern Medical Center in Dallas, who led the study, said: "It would be really exciting if it turned out that we've zeroed in on the anatomical regions where things go wrong in autistic patients, regardless of how the autism occurs."

Anthony Wynshaw-Boris and Joy Greer from the University of California San Diego School of Medicine in La Jolla, writing in the same journal, say the findings are "intriguing".

But they caution that the research does not provide the complete answer as there were other behaviours seen in people with autistic spectrum disorders - such as repetitive behaviours - which were not seen in the mice.

Professor Simon Baron Cohen, of the Autism Research Centre in Cambridge, added that the research " may have some relevance to understanding the genetic basis of autism spectrum conditions" because the mouse behaviour mirrored that of a subgroup of people with autistic spectrum conditions.

But he added: "Social abnormalities in a mouse may be caused by very different factors to human social abnormalities.

"Further human, clinical studies will be needed to test if PTEN is a susceptibility gene for autistic spectrum disorders.

"But this new study adds to our understanding of how genes expressed in the brain may have specific functions related to neuroanatomy and behaviour."...'

http://news.bbc.co.uk/1/hi/health/4967866.stm

© BBC MMVI

Reference URL's