Marfan syndrome, fibrillin mutations causing

EGF-like domains were identified in extracellular proteins such as fibrillin-1. EGF-modules contain about 40-45 amino acids including six cysteine residues which normally build S-S disulfide bond bridges. Mutations in the fibrillin-1 gene cause Marfan syndrome and related disorders. 

Function and location of elastin Cause of Marfan syn drome Elastin is a connective tissue protein with rubber-like properties. Elastic fibers composed of elastin and glycoprotein microfibrils, such as fibrillin, are found in the lungs, the walls of large arteries, and elastic ligaments. [Note Mutations in the fibrillin gene are responsible for Marfan syndrome]... 

Fibrillin microfibrils are widely distributed extracellular matrix assemblies that endow elastic and non elastic connective tissues with long-range elasticity. They direct tropoelastin deposition during elastic fibrillogenesis and form an outer mantle for mature elastic fibers. Microfibril arrays are also abundant in dynamic tissues that do not express elastin, such as the ciliary zonules of the eye. Mutations in fibrillin-1—the principal structural component of microfibrils—cause Marfan syndrome, a heritable disease with severe aortic, ocular, and skeletal defects. Isolated fibrillin-rich microfibrils have a complex 56 nm beads-on-a-string appearance the molecular basis of their assembly and... 

Mutations in fibrillin-1 cause the autosomal dominant disorder Marfan syndrome and related disorders, termed fibrillinopathies (Robinson and Booms, 2001). MFS is characterized by life-threatening cardiovascular... 

Reinhardt, D. P., Ono, R. N., Notbohm, H., Muller, P. K., Bachinger, H. P., and Sakai, L. Y. (2000a). Mutations in calcium-binding epidermal growth factor modules render fibrillin-1 susceptible to proteolysis. A potential disease-causing mechanism in Marfan syndrome. / Biol. Chem. 275, 12339-12345. 

Dietz HC, Cutting CR, Pyeritz RE, Maslen CL, Sakai LY, Corson GM, Puffenberger EG, Hamosh A, Nanthakumar EJ, Curristin SM, Stetten G, Meyers DA, Francomano CA. Marfan syndrome caused by a recurrent de novo missense mutation in the fibrillin gene. Nature 1991 352 337-339. 

The amorphous elastin is organized into elastic fibers with a sheath of microfibrils surrounding each 10 nm fiber. The major component of the sheath is the glycoprotein fibrillin, mutations in whose gene causes Marfan syndrome. 

Marfan syndrome is caused by mutations in the fibrillin-1 gene located on chromosome 15. Fibrillin is a protein that plays a role in the characteristically elastic properties of connective tissne. The biochemical abnormality that leads to Marfan syndrome is not well under-... 

Fibrillin is encoded by a gene located in the long arm of chromosome 15. Mutations in the fibrillin gene lead to an autosomal dominant trait known as Marfan s syndrome. The incidence of this disorder is 1 10,000, and 15-30% of cases are caused by new mutations in the fibrillin gene. Consistent with the function of fibrillin in the elastic connective tissues, the clinical manifestations present as disorders of cardiovascular, musculoskeletal, and opthalmic systems. For example, dissecting aneurysm of... 

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