Forum for Science, Industry and Business

Sponsored by:     3M 
Search our Site:

 

Aberrant chromosomes uncovered in autistic children

22.05.2006
One extra chromosome, one damaged chromosome, or pieces of chromosomes missing. Eight children with four different disorders with autistic features all had one such aberration in their genes. This is shown in a dissertation from the Sahlgrenska Academy at Göteborg University in Sweden.

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
Further information:
http://www.sahlgrenska.gu.se

More articles from Life Sciences:

nachricht How brains surrender to sleep
23.06.2017 | IMP - Forschungsinstitut für Molekulare Pathologie GmbH

nachricht A new technique isolates neuronal activity during memory consolidation
22.06.2017 | Spanish National Research Council (CSIC)

All articles from Life Sciences >>>

The most recent press releases about innovation >>>

Die letzten 5 Focus-News des innovations-reports im Überblick:

Im Focus: Can we see monkeys from space? Emerging technologies to map biodiversity

An international team of scientists has proposed a new multi-disciplinary approach in which an array of new technologies will allow us to map biodiversity and the risks that wildlife is facing at the scale of whole landscapes. The findings are published in Nature Ecology and Evolution. This international research is led by the Kunming Institute of Zoology from China, University of East Anglia, University of Leicester and the Leibniz Institute for Zoo and Wildlife Research.

Using a combination of satellite and ground data, the team proposes that it is now possible to map biodiversity with an accuracy that has not been previously...

Im Focus: Climate satellite: Tracking methane with robust laser technology

Heatwaves in the Arctic, longer periods of vegetation in Europe, severe floods in West Africa – starting in 2021, scientists want to explore the emissions of the greenhouse gas methane with the German-French satellite MERLIN. This is made possible by a new robust laser system of the Fraunhofer Institute for Laser Technology ILT in Aachen, which achieves unprecedented measurement accuracy.

Methane is primarily the result of the decomposition of organic matter. The gas has a 25 times greater warming potential than carbon dioxide, but is not as...

Im Focus: How protons move through a fuel cell

Hydrogen is regarded as the energy source of the future: It is produced with solar power and can be used to generate heat and electricity in fuel cells. Empa researchers have now succeeded in decoding the movement of hydrogen ions in crystals – a key step towards more efficient energy conversion in the hydrogen industry of tomorrow.

As charge carriers, electrons and ions play the leading role in electrochemical energy storage devices and converters such as batteries and fuel cells. Proton...

Im Focus: A unique data centre for cosmological simulations

Scientists from the Excellence Cluster Universe at the Ludwig-Maximilians-Universität Munich have establised "Cosmowebportal", a unique data centre for cosmological simulations located at the Leibniz Supercomputing Centre (LRZ) of the Bavarian Academy of Sciences. The complete results of a series of large hydrodynamical cosmological simulations are available, with data volumes typically exceeding several hundred terabytes. Scientists worldwide can interactively explore these complex simulations via a web interface and directly access the results.

With current telescopes, scientists can observe our Universe’s galaxies and galaxy clusters and their distribution along an invisible cosmic web. From the...

Im Focus: Scientists develop molecular thermometer for contactless measurement using infrared light

Temperature measurements possible even on the smallest scale / Molecular ruby for use in material sciences, biology, and medicine

Chemists at Johannes Gutenberg University Mainz (JGU) in cooperation with researchers of the German Federal Institute for Materials Research and Testing (BAM)...

All Focus news of the innovation-report >>>

Anzeige

Anzeige

Event News

Plants are networkers

19.06.2017 | Event News

Digital Survival Training for Executives

13.06.2017 | Event News

Global Learning Council Summit 2017

13.06.2017 | Event News

 
Latest News

Quantum thermometer or optical refrigerator?

23.06.2017 | Physics and Astronomy

A 100-year-old physics problem has been solved at EPFL

23.06.2017 | Physics and Astronomy

Equipping form with function

23.06.2017 | Information Technology

VideoLinks
B2B-VideoLinks
More VideoLinks >>>