Abstract
In this issue of Science Translational Medicine, a report by Loeys et al. on mutations in the fibrillin-1 gene in patients with skin fibrosis (stiff skin) adds a new piece of information on a connective tissue disorder that resembles systemic sclerosis, an autoimmune disease characterized by skin fibrosis and visceral organ involvement. Here, we discuss the implications of these findings, as well as new opportunities for targeted therapy for fibrosis.
MeSH terms
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Animals
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Extracellular Matrix / metabolism
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Extracellular Matrix / pathology
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Fibrillin-1
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Fibrillins
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Fibrosis / drug therapy
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Fibrosis / genetics
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Fibrosis / pathology
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Humans
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Inflammation / genetics
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Inflammation / pathology
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Marfan Syndrome / genetics
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Marfan Syndrome / pathology
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Mice
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Microfilament Proteins / genetics
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Skin / pathology*
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Skin Diseases / drug therapy
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Skin Diseases / genetics
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Skin Diseases / pathology*
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Smad Proteins / metabolism
Substances
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FBN1 protein, human
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Fbn1 protein, mouse
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Fibrillin-1
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Fibrillins
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Microfilament Proteins
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Smad Proteins