Elizabeth BellÂYear entered program2007 (MD/PhD) Undergraduate institutionUniversity of Notre Dame Johns Hopkins University School of Medicine ResearchStiff Skin syndrome (SSS) is a congenital form of scleroderma caused my mutations that create or destroy cysteine residues in the gene for an extracellular matrix protein, fibrillin-1. The inheritance pattern is autosomal dominant and this disease is characterized by a decreased height and stiff, hardened skin over the entire body. However, there is no clinically apparent evidence of internal organ or systemic connective tissue disease in SSS patients. Marfan syndrome (MFS) is another autosomal dominant disease caused my similar mutations in fibrillin-1. In contrast to SSS, MFS is characterized by long-bone overgrowth, ocular lens dislocation, and aortic enlargement. I am exploring the mechanism of SSS and why similar mutations within the same gene result in such differing phenotypes. I am also investigating how this mechanism might provide insight into the more common autoimmune scleroderma or Systemic Sclerosis (SSc), a disease in which the genetic contribution is largely unknown. |
