Health News - Sunday, February 18, 2007
The largest study of the genetics of autism ever conducted, involving DNA from almost 1,200 affected families worldwide, has already yielded two important clues to the poorly understood disorder, scientists say.
Discoveries in two areas of the genome -- a region on chromosome 11 suspected of having links to autism, and aberrations in a brain-development gene called neurexin 1 -- could spur more targeted research, the experts noted. "That's the real promise here," said Autism Genome Project co-researcher Dr. Stephen Scherer, director of the Center for Applied Genomics at The Hospital for Sick Children in Toronto. "When you identify certain genes, you can then develop genetic tests -- in some cases prenatal and in some cases postnatal -- because early diagnosis is crucial here." Continue reading
Irritable bowel syndrome (IBS) is a common gastrointestinal disorder in the developed world. It is characterized by altered bowel function, abdominal discomfort, and pain. However, there are few effective treatments for IBS, in part because the molecular mechanisms underlying the disease symptoms have not been well defined. But now, researchers from the University of Calgary have provided evidence that serine proteases and PAR2 might provide new therapeutic targets for the treatment of IBS.
In the study, which appears online in advance of publication in the March print issue of the Journal of Clinical Investigation, Nathalie Vergnolle and colleagues show that colonic biopsies from individuals with IBS release increased amounts of serine proteases when cultured in vitro, compared with colonic biopsies from healthy individuals. Likewise, colonic washes from individuals with IBS contained higher levels of serine proteases than did colonic washes from healthy individuals. Continue reading