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Van Buchem disease decoded

ransfection enhancer analyses, and one of them a 250-base-pair region named ECR5 was found to drive expression in osteoblast-like cells.

These results provide a strong causal link between the 52-kilobase deletion and Van Buchem disease in humans. Drs. Michaela Kneissel and Hansjoerg Keller, collaborators on the project from the Novartis Institutes for BioMedical Research in Basel, Switzerland, point out that, in addition to addressing a fundamental problem in genomics, this project has clinical relevance. "Human genetic diseases of the skeleton, such as sclerosteosis and Van Buchem disease, provide a starting point for understanding the modulation of anabolic bone formation, and ultimately have the potential to identify key molecular components that can be used as new therapeutic agents to treat individuals suffering from bone loss disorders," say the researchers.

On an important scientific note, the methodological approaches employed by these researchers in elucidating the basis for Van Buchem disease will be widely applicable and very powerful in the characterization of other distant, cis-acting regulatory elements.


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Contact: Maria A. Smit
smit@cshl.edu
516-422-4013
Cold Spring Harbor Laboratory
16-Jun-2005


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