Scientists have identified potential differences in brain cells of people with a rare syndrome linked to autism, a finding they say could explain the origins of the condition and lead to targeted treatment.
|Last Updated: Nov 28, 2011, 11:40 PM IST|Source: Bureau
Scientists have identified potential differences in brain cells of people with a rare syndrome linked to autism, a finding they say could explain the origins of the condition and lead to targeted treatment.
Researchers at the Stanford University in the US used a method to turn skin cells from people with "Timothy syndrome" -- who often display autistic behaviours -- into brain cells.
They found abnormal activities in these cells which were, however, corrected partially using an experimental drug.
This means, the researchers said, the findings present a useful target for scientists looking to examine what goes wrong in the developing brain of a child with autism, the BBC reported.
Compared with the millions of people worldwide thought to show characteristics of autism, Timothy syndrome is very rare and it affects an estimated 20 people across the globe.
For the study, published in the journal Nature Medicine, the researchers used a newly-developed technique to generate brain cells called neurons from only a sample of the patient`s skin. This allowed them to examine their development in the laboratory, and even use them to test out possible treatments.
They found obvious differences between neurons grown from Timothy syndrome patients, and those from healthy "controls".
The healthy neurons developed into different subtypes, ready for work in different regions of the brain, while it was very different in the Timothy syndrome samples -- more were equipped to work in the upper part of the cerebral cortex, and fewer in the lower part.
This meant there were fewer neurons equipped to work in a part of the brain called the corpus callosum, which helps the left and right "hemispheres" of the brain communicate. These differences echoed those already observed in mice specially bred with the Timothy syndrome genetic fault.
In addition, the neurons were making too much of a particular body chemical linked to the manufacture of dopamine and norepinephrine, which play a significant role in sensory processing and social behaviour.
Dr Ricardo Dolmetsch, who led the study, said that the abnormalities found tallied with other evidence that autism was due in part to poor communication between different parts of the brain.
The team managed to reduce significantly the number of these malfunctioning neurons by adding a drug they developed.
This, they said, meant it might be possible one day to treat this defect in a real patient, although the drug used was not currently suitable for children due to side-effects.
The National Autistic Society in UK, however, gave a cautious welcome to findings, and warned that they did not necessarily offer insights into every form of autism.
Researcher Georgina Gomez said: "Timothy syndrome is only one form of autism and so these findings only give a very limited picture of what might cause the condition.
"More work would need to be done to substantiate this particular piece of research."
PTI
By clicking “Accept All Cookies”, you agree to the storing of cookies on your device to enhance site navigation, analyze site usage, and assist in our marketing efforts.
Cookies Setting
By clicking “Accept All Cookies”, you agree to the storing of cookies on your device and the processing of information obtained via those cookies (including about your preferences, device and online activity) by us and our commercial partners to enhance site navigation, personalise ads, analyze site usage, and assist in our marketing efforts. More information can be found in our Cookies and Privacy Policy. You can amend your cookie settings to reject non-essential cookies by clicking Cookie Settings below.
Manage Consent Preferences
Strictly Necessary Cookies
These cookies are necessary for the website to function and cannot be switched off in our systems. They are usually only set in response to actions made by you which amount to a request for services, such as setting your privacy preferences, logging in or filling in forms. You can set your browser to block or alert you about these cookies, but some parts of the site will not then work or you may not be able to login.
Functional Cookies
These cookies enable the website to provide enhanced functionality and personalisation. They may be set by us or by third party providers whose services we have added to our pages. If you do not allow these cookies then some or all of these services may not function properly.
Targeting Cookies
These cookies may be set through our site by our advertising partners. They may be used by those companies to build a profile of your interests and show you relevant adverts on other sites. They are also used to limit the number of times you see an advert as well as help measure the effectiveness of an advertising campaign. They do not store directly personal information, but are based on uniquely identifying your browser and internet device. If you do not allow these cookies, you will experience less targeted advertising.
Performance Cookies
These cookies allow us to count visits and traffic sources so we can measure and improve the performance of our site. They help us to know which pages are the most and least popular and see how visitors move around the site. All information these cookies collect is aggregated and therefore anonymous. If you do not allow these cookies we may not know when you have visited our site, and may not be able to monitor its performance.