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Recurrent genetic microdeletion linked to autism

Researchers from the University of hicago Medical Center, the University of Illinois at Chicago, nd the Roswell Park Cancer Institute have discovered that the eletion of a tiny part of chromosome 16, callled 16p11.2, is inked to autism.

Washington, Jan 9 : Researchers from the University of hicago Medical Center, the University of Illinois at Chicago, nd the Roswell Park Cancer Institute have discovered that the eletion of a tiny part of chromosome 16, callled 16p11.2, is inked to autism.

The study was led by Susan Christian, PhD, associate professor of uman genetics at the University of Chicago.

This genetic 'microdeletion', despite of being detected in only our out of 712 subjects with autism (0.6pct), is the second most ommon recurrent genomic disorder associated with autism, ffecting almost 1 out of 160 children in the United States.

"We suspect that 16p11.2 microdeletions are a risk factor for utism spectrum disorders generally and may cause mild autism in ome families. By disturbing the network of affected genes, this oss of selected genes may underlie the development of autism," aid Dr. Christian.

This deletion results in the loss of about 25 known genes.

"Twelve of those genes appear to be part of a single genetic etwork that includes genes involved in cell-to-cell signaling nd interaction. At least three of the deleted genes are rimarily expressed in the brain and are thought to influence ehavior which makes them very promising candidates for autism," aid first author Ravinesh A. Kumar, PhD. postdoctoral scientist n human genetics at the University of Chicago.

It was also suspected that the lost or damaged genes may be nvolved in other cognitive, language and social impairments.

In order to find genes associated with autism, the entire genomes f 180 subjects with autism was scanned to search for ubmicroscopic pieces of DNA that were either lost or mistakenly uplicated in patients diagnosed with autism.

It was first found that 2 out of those 180 (1.1pct) had a eletion in region 16p11.2, on the short arm of chromosome 16. esides, none of the 372 control subjects was found to have the ame deletion.

For confirmation of this result, DNA from an additional 532 ubjects with autism was scanned. They found two additional ubjects with the same deletion (0.4pct), not seen in any of the 65 controls. When the two samples were combined, a total revalence of 16p11.2 deletions of 0.6 percent was produced.

The 16p11.2 region is lined on both sides by bands of segmental uplications, short strings of nearly identical DNA that affect he loss, shuffling or amplification of this region at the time f genetic recombination.

"Many human diseases are caused by these types of chromosomal earrangements, however, this is the first recurrent icrodeletion in autism too small to be seen under a microscope," aid Christian.

However, the most common known genetic cause of autism is a much arger duplication of part of chromosome 15, involving about a ozen genes. The chromosome 15 abnormality is associated with utism as well as intellectual disability. On the other hand, the hromosome 16 deletion is not consistently associated with ntellectual disability.

The study was recently published online by the journal Human olecular Genetics.

ANI