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.
Kuehn BM. Genes Help Unravel Marfan Pathology, Point Way to Potential New Therapies. JAMA. 2005;294(14):1745-1746. doi:10.1001/jama.294.14.1745