Most people are born with 23 pairs of chromosomes; one set from Mom and one set from Dad. These chromosomes contain genetic instructions; the basic information for a person’s development. While there is no one genetic abnormality that can explain all cases of autism, there is one genetic abnormality that is common enough to warrant further investigation. As scientists began to successfully map the human genome it was discovered that a large group of children diagnosed with autism were missing a small part of chromosome 16, affecting 27 genes (Specifically, the deletion is found in 16p11.2). The small deletion causes children to inherit only one copy of the 27-genes. To test the theory that this deletion was responsible for some of the observable autism behaviors scientist engineered mice with the same missing genes.
The research out of Cold Spring Harbor Laboratory [1] revealed that when the same genetic alteration was done to chromosome 16 in mice features resembling autism could be observed. Basically, the scientists created mice with autism. The mice had several autism-typical behaviors that included hyperactivity, difficulty adapting to a new environment, and restricted, repetitive behaviors.
This three-dimensional representation of the mouse brain highlights eight regions (shown with different colors) affected by 16.p11.2 deletion. (Credit: Image courtesy of Mills@CSHL)
The researchers also used MRI to examine the specific parts of the brain affected by the genetic alteration in the mice. Eight different parts of the brain were identified as being changed because of the genetic deletion. The researchers are now trying to figure out which gene or genes in the missing portion of chromosome 16 are responsible for the observed behaviors.
The hope is that the mice will help scientists pinpoint the genetic basis for autism. If scientists are successful it would allow doctors to diagnose children with autism, and start interventions, before the child is in full-blown syndrome.
[1] Cold Spring Harbor Laboratory. “Evidence found for the genetic basis of autism: Models of autism show that gene copy number controls brain structure and behavior.” ScienceDaily, 3 Oct. 2011.
7 Comments
If this is proven, would it be possible to repair missing part of the gene in children in order to cure them?
my autistic son aged 10 years and also suffering epilepcy since 3 years and under treatment of a neuro physician, doctor prescribed ‘adwize’, ‘lamitor DT’,'valparin syrup’, somazina syrup, and ‘ bethodixin B12 syrup my son having hyperactive behaviour. i live in india, please suggest me which medicine can cure or which therapy can cure my child fully, pradip.
Hi
Thank you very much
How does one get their child tested to see if part of chromosome 16 is missing?
Hello Carmel, normally a genetic testing is provided in larger hospital or university hospital. You want to ask that it includes chromosome 16 as this gene is related with a lot of disease conditions.
Hello Praip, you are asking me a concerned question that any parents wish to ask for their child. It is not that simple to just tell you what to you online although if you are inventive enough you could find resources on this site. Unfortunately, ASD leads to seizure at later age for an autistic child if not treated earlier for the ASD condition. The clue to hyperactivity behavior is dopamine and you should do a GFCF diet and food therapy to balance your child imbalanced blood sugar handling. Good luck!
Hi Bojan, it is not ready yet to repair genetic abberations as it is still in research phase.