1. [Molecular biological aspects of Marfan syndromes].
- Author
-
Belsing TZ, Lund AM, Abildstrøm SZ, Søndergaard L, and Friis-Hansen L
- Subjects
- Fibrillin-1, Fibrillins, Humans, Marfan Syndrome etiology, Marfan Syndrome metabolism, Marfan Syndrome physiopathology, Microfilament Proteins genetics, Microfilament Proteins metabolism, Microfilament Proteins physiology, Mutation, Signal Transduction physiology, Transforming Growth Factor beta genetics, Transforming Growth Factor beta metabolism, Transforming Growth Factor beta physiology, Marfan Syndrome genetics
- Abstract
Marfan syndrome (MFS) is a hereditary connective tissue disorder. Studies of MFS have established the critical contribution of fibrillin-1 deficiency to disease progression through altered cell-matrix interactions and dysregulated TGF-β signalling. It is now known that the disease is caused by altered regulation of TGF-β. As a result, the definition of MFS- and MFS-related diseases as the prototypical structural disorder of the connective tissue has changed to that of a developmental abnormality with broad and complex effects on the morphogenesis and tissue remodelling.
- Published
- 2011