The children in the study had Asperger’s syndrome, infantile autism, ADHD, and Rett’s syndrome. These are so-called autism spectrum disorders that all involve some form of contact disturbance. The cause of these diseases is not known.
“Both heredity and environment play a role. I believe it’s a matter of several genes working together, and if one chromosome is damaged, there may be genes in that chromosome that have been damaged or are missing,” says research Tonnie Johannesson.
It is not known precisely which genes cause the disorders, but the dissertation provides an indication of where these genes might be situated.
“It’s as if we haven’t found the needle in the haystack yet, but now we know what haystack to look in,” says Tonnie Johannesson.
The study shows that two boys with Asperger’s syndrome had nearly identical aberrations in a chromosome. On chromosome 17, both had a break in almost exactly the same place.
“It is remarkable to find such a similarity between two unrelated patients with the same disorder,” says Tonnie Johannesson.
Following in-depth analysis, Tonnie Johannesson managed to find the faulty gene in one of the boys. The study shows that the damaged gene is of importance to the brain, but it is unclear precisely what role it plays in brain development.
Infantile autism is a form of disease that expresses itself during the child’s first year. The dissertation shows that four unrelated boys who have the disorder all had a small extra chromosome. The fifteenth pair consisted of three chromosomes instead of two.
“Genes are presumably the cause of this disorder, but we still don’t know which ones they are,” says Tonnie Johannesson.
In a mildly mentally retarded boy diagnosed with ADHD the chromosomes had changed places with each other. Three of the chromosomes had been switched around, but all the chromosome pieces seemed to be there. On the other hand, a girl with a disease resembling Rett’s syndrome proved to be lacking a piece of a chromosome in the third pair.
Elin Lindström | alfa
Shrews shrink in winter and regrow in spring
24.10.2017 | Max-Planck-Institut für Ornithologie
'Y' a protein unicorn might matter in glaucoma
23.10.2017 | Georgia Institute of Technology
Salmonellae are dangerous pathogens that enter the body via contaminated food and can cause severe infections. But these bacteria are also known to target...
University of Maryland researchers contribute to historic detection of gravitational waves and light created by event
On August 17, 2017, at 12:41:04 UTC, scientists made the first direct observation of a merger between two neutron stars--the dense, collapsed cores that remain...
Seven new papers describe the first-ever detection of light from a gravitational wave source. The event, caused by two neutron stars colliding and merging together, was dubbed GW170817 because it sent ripples through space-time that reached Earth on 2017 August 17. Around the world, hundreds of excited astronomers mobilized quickly and were able to observe the event using numerous telescopes, providing a wealth of new data.
Previous detections of gravitational waves have all involved the merger of two black holes, a feat that won the 2017 Nobel Prize in Physics earlier this month....
Material defects in end products can quickly result in failures in many areas of industry, and have a massive impact on the safe use of their products. This is why, in the field of quality assurance, intelligent, nondestructive sensor systems play a key role. They allow testing components and parts in a rapid and cost-efficient manner without destroying the actual product or changing its surface. Experts from the Fraunhofer IZFP in Saarbrücken will be presenting two exhibits at the Blechexpo in Stuttgart from 7–10 November 2017 that allow fast, reliable, and automated characterization of materials and detection of defects (Hall 5, Booth 5306).
When quality testing uses time-consuming destructive test methods, it can result in enormous costs due to damaging or destroying the products. And given that...
Using a new cooling technique MPQ scientists succeed at observing collisions in a dense beam of cold and slow dipolar molecules.
How do chemical reactions proceed at extremely low temperatures? The answer requires the investigation of molecular samples that are cold, dense, and slow at...
23.10.2017 | Event News
17.10.2017 | Event News
10.10.2017 | Event News
24.10.2017 | Life Sciences
23.10.2017 | Life Sciences
23.10.2017 | Physics and Astronomy