Academic Journal
Main Category: Autism
Also Included In: Genetics; Neurology / Neuroscience
Article Date: 14 Aug 2012 - 11:00 PDT
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Autism Defective Gene Link
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| Healthcare Prof: |  | 3.33 (3 votes) |
| Article opinions: | 3 posts |
According to a study published online in PLoS ONE, researchers have identified how a defective gene causes brain changes that lead to the atypical social behavior characteristic of autism.
The study, conduced by researchers affiliated with the UC Davis MIND Institute, also offers a potential target for drugs to treat the condition.
Previous studies have already demonstrated that the gene is defective in children with autism, but were unable to determine its effects on neurons on the brain. In this study, the team found that in mice, the gene disrupted energy use in neurons. They found that these damaging effects were associated with antisocial and prolonged repetitive behavior - characteristics of autism.
Cecilia Giulivi, Professor of molecular biosciences in the UC Davis School of Veterinary Medicine and a researcher affiliated with the UC David MIND Institute, explained:
"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. Once you understand the mechanism, that opens the way for developing drugs to treat the condition.
The defective gene appears to disrupt neurons' use of energy, the critical process that relies on the cell's molecular energy factories called mitochondria."
For the study, the researchers tweaked a gene called pten in mice so that neurons were deficient in the normal amount of pten's protein. Four to six weeks after birth, the team discovered malfunctioning mitochondria in the mice.
By weeks 20-29, the team found that DNA damage in the mitochondria and disruption of their function had increased significantly. Around this time, the mice began engaging in repetitive grooming behavior and avoided contact with the other mice.
Giulivi explained: "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."
According to the researchers, when pten proteins are defective, they interact with the protein of a second gene (p53) to reduce how much energy is produced in neurons. This causes an increase in harmful mitochondria DNA changes and abnormal levels of energy production in the cerebellum and hippocampus, areas of the brain vital for cognition and social behavior.
Mutations in pten proteins have also been associated with Alzheimer's disease and a spectrum of autism disorders. According to the researchers, when pten protein was lacking, its interaction with p53 activated deficiencies and defects in other proteins that have been identified in individuals with learning disabilities, such as autism.
The study was funded by the Autism Speaks Foundation, the MIND Institute, the Elsa U. Pardee Foundation and the National Institute of Environmental Health Sciences.
Written by Grace Rattue
Copyright: Medical News Today
Not to be reproduced without permission of Medical News Today
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n.p. "Autism Defective Gene Link." Medical News Today. MediLexicon, Intl., 14 Aug. 2012. Web.
23 Aug. 2012. <http://www.medicalnewstoday.com/articles/249009.php>
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http://www.medicalnewstoday.com/articles/249009.php.
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Visitor Opinions (latest shown first)
defective vs. damaged Re: Autism defective gene link
posted by Ken on 22 Aug 2012 at 9:23 amIts great to find another piece of the puzzle. Placing the piece where it fits properly in the puzzle is the next step. The term "defective" being applied to genes has me curious. If something is defective that usually means that it deviates in either form or function or both. The author mentions evidence of mitochondria DNA "damage" as a result of gene pten having been "tweaked" by researchers. The DNA did not function properly which affected the neurons, because the pten had been "tweaked". Isn't the tweaking of the pten in effect altering form and/or function?
Damage and tweak can both be verbs (action words). Defect is either used as a noun or adverb. A "defective" gene implies a "defective" parent (sound familiar....think 1960's). How is it that so many "defective"parents have suddenly appeared on the radar screen via their autistic offspring. Could it be that,at least in some (unknown quantity) of cases that the parents or childs genes were "damaged" or "tweaked in a way that was not previously occurrng at the rate of 1 in 108 (or whatever the lastest astronomical figure is)?
antisocial vs. asocial
posted by Kyle on 15 Aug 2012 at 4:38 pmA very thought provoking article! I'm looking forward to following the research in this area. One area of possible confusion - the use of the term antisocial appears to be misused. Antisocial (as in Antisocial Personality Disorder) connotes a pattern of behavior that acts against society, such as is engaged in by sociopaths. Individuals with autism are characterized by qualitatived impairments in social interaction, better described as "asocial". The confusion of the terms may contribute to the idea that persons affected by autistic spectrum disorders are necessarily violent or otherwise dangerous within society. They are not.
Give me a break
posted by Autistic on 15 Aug 2012 at 1:42 amWhilst you're making undergraduate mistakes like calling genes "defective" (way to put Human Agency where it doesn't exist), what you also fail to state is which part of the spectrum you are referring to because it has been known for a long time that unity in the Autism Spectrum genetically is a big fat lie.
Cause if it's my end then it's the best defective gene in the universe. Just like the tail gene in most Humans.
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