Elastinproteiini

Elastinproteiini, known in English as elastin, is a highly elastic protein that provides durability and resilience to various connective tissues throughout the body. It is a key component of the extracellular matrix and is especially abundant in elastic arteries, skin, lungs, and the elastic fibres of the sclera and certain ligaments. The protein is encoded primarily by the ELN gene located on chromosome 7q21–q22. Elongation of fibroblasts in both embryonic and adult tissues results in the deposition of elastin fibres, which are cross‑linked by lysyl oxidase to form a durable network.

Elastin is composed of a hydroxyproline‑rich core domain interspersed with glycine‑rich repeats, enabling it to contract and recoil. The protein’s elastic properties stem from its ability to undergo reversible stretching; when a mechanical force is applied, the elastin fibre elongates but returns to its original shape once the load is removed. This property is critical in vascular compliance, providing elastic recoil to blood flow, and in skin, maintaining flexibility against deformation.

Genotype–phenotype studies reveal that mutations in ELN or in genes regulating the cross‑linking process can lead to connective tissue disorders. Conditions such as cutis laxa, supravalvular aortic stenosis, and Williams syndrome show elastin abnormalities, presenting with lax skin, aortic aneurysms, or aortic stenosis, respectively. Developmental defects may also emerge due to impaired elastogenesis, contributing to craniofacial and spinal anomalies.

Diagnosis of elastin-related disorders typically involves molecular genetic testing, histological examination of tissue biopsies to assess elastic fibre density, and imaging modalities that assess arterial compliance or valvular integrity. Therapeutic approaches are mainly supportive, focusing on monitoring cardiovascular complications and managing skin laxity. Research into gene therapy, stem cell-derived fibroblasts, and pharmacological agents that enhance elastin synthesis is ongoing, aiming to address the underlying structural deficits in affected patients.