Bone lessons from Marfan syndrome and related disorders: fibrillin, TGF-B and BMP at the balance of too long and too short.

Abstract

The extracellular matrix (ECM) is a complex entity with structural proteins (such as fibrillins, collagen, elastin), ground substance (proteoglycans), modifying enzymes (ADAMTS, PLOD, lysyloxidases (LOX)) and cytokines that regulate morphogenesis, growth, homeostasis and repair (transforming growth factor-beta [TGF-beta], bone morphogenic protein [BMP]). Over the last decade, the intimate relationship between structural proteins and these growth factors has emerged. The study of the extracellular matrix in human conditions and relevant mouse models is gradually unmasking the key role of these structural molecules in the regulation of the bio-availability of these growth factors. Major progress has been made in the study of the cardiovascular system (1) and the first clues in the skeletal system have emerged. (2) In this review, we will discuss the clinical, molecular, and pathogenic aspects of Marfan syndrome, Loeys-Dietz syndrome and related disorders with emphasis on the role of fibrillins and TGF-beta.

• Authors: Bart L Loeys, Geert Mortier, Harry C Dietz
• Journal: Pediatric endocrinology reviews : PER (Pediatr Endocrinol Rev) Vol. 10 Suppl 2 Pg. 417-23 (Jun 2013) ISSN: 1565-4753 [Print] Israel
• PMID: 23858625 (Publication Type: Journal Article, Review)

Chemical References

• Bone Morphogenetic Proteins
• Fibrillins
• Microfilament Proteins
• Transforming Growth Factor beta

Topics

• Animals
• Bone Morphogenetic Proteins (metabolism)
• Extracellular Matrix (metabolism)
• Fibrillins
• Humans
• Loeys-Dietz Syndrome (etiology, metabolism, physiopathology)
• Marfan Syndrome (etiology, metabolism, physiopathology)
• Mice
• Microfilament Proteins (metabolism)
• Transforming Growth Factor beta (metabolism)