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Medical News and Perspectives
October 12, 2005

Genes Help Unravel Marfan Pathology, Point Way to Potential New Therapies

JAMA. 2005;294(14):1745-1746. doi:10.1001/jama.294.14.1745

Modern genetic techniques are providing new insights into the pathogenesis of Marfan syndrome, a genetic disorder that can cause skeletal malformations and abnormalities of the heart and other organs. In the process, these insights are challenging long-held beliefs about the disease and related disorders and raising hope for better treatments.

Such hope counters the pessimism that accompanied the 1991 discovery that Marfan syndrome is caused by mutations in the gene that encodes fibrillin-1, a component of the extracellular matrix (Dietz et al. Nature. 1991;352:337-339). After all, defects in structural proteins throughout the body would be nearly impossible to correct.

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