Clinical Outcomes of Elastin Fibre Defects

Abstract

Elastic fibres are a major class of extracellular matrix fibres that are abundant in dynamic connective tissues such as arteries, lungs, skin and ligaments. Their structural role is to endow tissues with elastic recoil and resilience. They also act as an important adhesion template for cells, and they regulate growth factor availability. Mutations in major structural components of elastic fibres, especially elastin, fibrillins and fibulin-5, cause severe, often life-threatening, heritable connective tissue diseases such as Marfan syndrome, Menkes Syndrome, Cutis laxa. Elastic-fibre function is also frequently compromised in damaged or aged elastic tissues. The ability to regenerate or engineer elastic fibres and tissues remains a significant challenge, requiring improved understanding of the molecular and cellular basis of elastic-fibre biology and pathology. The aim of the article is to present in brief the structural details of elastin fibres, the defects and pleiotrophic effects as a result of damage and various clinical conditions associated with defects in elastin fibres ranging from rare pediatric syndromes to common entities like hypertension.