Study shows gene defect's role in autism-like behavior
Scientists affiliated with the UC Davis MIND Institute have discovered how a defective gene causes brain changes that lead to the atypical social behavior characteristic of autism. The research offers a potential target for drugs to treat the condition.
Earlier research already has shown that the gene is defective in children with autism, but its effect on neurons in the brain was not known. The new studies in mice show that abnormal action of just this one gene disrupted energy use in neurons. The harmful changes were coupled with antisocial and prolonged repetitive behavior -- traits found in autism.
The research is published online today in the scientific journal PLoS ONE.
"A number of genes and environmental factors have been shown to be involved in autism, but this study points to a mechanism -- how one gene defect may trigger this type of neurological behavior," said study senior author Cecilia Giulivi, professor of molecular biosciences in the UC Davis School of Veterinary Medicine and a researcher affiliated with the UC Davis MIND Institute.
"Once you understand the mechanism, that opens the way for developing drugs to treat the condition," she said.
The defective gene appears to disrupt neurons' use of energy, Giulivi said, the critical process that relies on the cell's molecular energy factories called mitochondria.
In the research, a gene called pten was tweaked in the mice so that neurons lacked the normal amount of pten's protein. The scientists detected malfunctioning mitochondria in the mice as early as 4 to 6 weeks after birth.
By 20 to 29 weeks, DNA damage in the mitochondria and disruption of their function had increased dramatically. At this time the mice began to avoid contact with their litter mates and engage in repetitive grooming behavior. Mice without the single gene change exhibited neither the mitochondria malfunctions nor the behavioral problems.
The antisocial behavior was most pronounced in the mice at an age comparable in humans to the early teenage years, when schizophrenia and other behavioral disorders become most apparent, Giulivi said.
The research showed that, when defective, pten's protein interacts with the protein of a second gene known as p53 to dampen energy production in neurons. This severe stress leads to a spike in harmful mitochondrial DNA changes and abnormal levels of energy production in the cerebellum and hippocampus -- brain regions critical for social behavior and cognition.
Pten mutations previously have been linked to Alzheimer's disease as well as a spectrum of autism disorders. The new research shows that when pten protein was insufficient, its interaction with p53 triggered deficiencies and defects in other proteins that also have been found in patients with learning disabilities including autism.
Journal reference: PLoS ONE
Provided by UC Davis
- Multiple genes implicated in autism Feb 09, 2009 | not rated yet | 0
- Scientists point to link between missing synapse protein and abnormal behaviors Nov 23, 2011 | not rated yet | 0
- Gene mutation in autism found to cause hyperconnectivity in brain's hearing center Jan 31, 2012 | not rated yet | 0
- Decreased levels of binding gene affect memory and behavior Dec 10, 2008 | not rated yet | 0
- Gene mutation is linked to autism-like symptoms in mice Feb 23, 2010 | not rated yet | 0
- Motion perception revisited: High Phi effect challenges established motion perception assumptions Apr 23, 2013 | 3 / 5 (2) | 2
- Anything you can do I can do better: Neuromolecular foundations of the superiority illusion (Update) Apr 02, 2013 | 4.5 / 5 (11) | 5
- The visual system as economist: Neural resource allocation in visual adaptation Mar 30, 2013 | 5 / 5 (2) | 9
- Separate lives: Neuronal and organismal lifespans decoupled Mar 27, 2013 | 4.9 / 5 (8) | 0
- Sizing things up: The evolutionary neurobiology of scale invariance Feb 28, 2013 | 4.8 / 5 (10) | 14
Calculating Steam Pressure in Closed Container
3 hours ago I am trying to calculate the volume of liquid water i need to place in a sealed container in order to obtain 10 psi of steam pressure in that closed...
Learning curve of Electromagnetism?
8 hours ago I'm taking a first year physics course and have been having a little trouble with the basics of newtons laws and forces and whatnot, though nothing...
thin glass in liquid
9 hours ago I have one question about optics because I start interested in it. If an object is placed a distance p from a thin glass lens (index of refraction...
How many joules expended for a push up?
12 hours ago Just wondering if any of you can do the calculation that well approximates the amount of joules expended by a push up.
force to keep the folding doors
12 hours ago Hello, I would like to ask you to calculate the force F, which needed to keep the folding doors in this position. I would like to know what is the...
Confusion regarding direction of kinetic friction on inclined plane.
13 hours ago *please help! * The formula for kinetic friction acting on a sliding body is μkN When the body is sliding with constant velocity down an...
- More from Physics Forums - Classical Physics
More news stories
Research by Victoria University PhD education graduand Larah van der Meer highlights the importance of understanding the communication preferences of children with developmental disabilities such as autism.
Autism spectrum disorders May 14, 2013 | 3.3 / 5 (3) | 1
At times, Andy Shih still finds himself overwhelmed by the groundswell of interest in autism applications he's seen in the three years since Apple Inc. released the first iPad.
Autism spectrum disorders May 09, 2013 | 2 / 5 (1) | 0
Children with autism see simple movement twice as quickly as other children their age, and this hypersensitivity to motion may provide clues to a fundamental cause of the developmental disorder, according ...
Autism spectrum disorders May 08, 2013 | not rated yet | 0 |
(AP)—Autism scientists are seeking more brain samples for research.
Autism spectrum disorders May 02, 2013 | 5 / 5 (1) | 0
An increasing number of U.S. children are experiencing gastrointestinal issues that require interventions to resolve, according to research presented at Digestive Disease Week (DDW).
12 hours ago | not rated yet | 0 |
The latest makeover to a massive psychiatric tome honored by some, reviled by others and even called the "Bible" of mental disorders is being released Saturday with a host of new changes.
10 hours ago | not rated yet | 0
A new case of the deadly coronavirus has been detected in Saudi Arabia where 15 people have already died after contracting it, the health ministry announced on Saturday on its Internet website.
10 hours ago | not rated yet | 0
Big names in medicine are set to give an upbeat assessment of the war on AIDS on Tuesday, 30 years after French researchers identified the virus that causes the disease.
20 hours ago | 5 / 5 (1) | 0
For combat veterans suffering from post-traumatic stress disorder, 'fear circuitry' in the brain never rests
Chronic trauma can inflict lasting damage to brain regions associated with fear and anxiety. Previous imaging studies of people with post-traumatic stress disorder, or PTSD, have shown that these brain regions can over-or ...
21 hours ago | 5 / 5 (1) | 0 |
A ground-breaking advance in colonoscopy technology signals the future of colorectal care, according to research presented today at Digestive Disease Week(DDW). Additional research focuses on optimizing the minimal withdrawal ...
12 hours ago | 5 / 5 (2) | 0