Fibrillin

A transgenic mouse has been created carrying a single copy of a mutant fibrillin-1, a mutation similar to that found in the human gene known to cause Marfan syndrome.

Fibrillin-1 directly binds a latent form of TGF-β, keeping it sequestered and unable to exert its biological activity.

Fibrillin-1 is essential for the proper formation of the extracellular matrix, including the biogenesis and maintenance of elastic fibers.

Reducing the level of normal fibrillin 1 causes a Marfan-related disease in mice. citation Transforming growth factor beta ( TGF-β ) plays an important role in Marfan syndrome.

The simplest model of Marfan syndrome suggests reduced levels of fibrillin-1 allow TGF-β levels to rise due to inadequate sequestration.