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Elastin-driven genetic diseases.

Maria Laura Duque Lasio1, Beth A Kozel2

  • 1Washington University School of Medicine, Department of Pediatrics, St. Louis, MO, USA.

Matrix Biology : Journal of the International Society for Matrix Biology
|March 5, 2018
PubMed
Summary
This summary is machine-generated.

Elastic fibers, crucial for tissue recoil, are made of elastin (ELN). Alterations in the ELN gene cause diseases affecting protein dosage and function, impacting tissue health.

Keywords:
Autosomal dominant cutis laxaElastinEmphysemaSupravalvar aortic stenosisWilliams Beuren duplication syndromeWilliams Beuren syndrome

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Area of Science:

  • Biochemistry
  • Molecular Biology
  • Genetics

Background:

  • Elastic fibers provide essential recoil to tissues like blood vessels, lungs, and skin, enabling repeated deformation.
  • These fibers, composed of elastin (ELN) and accessory proteins, are synthesized during a specific developmental period and remain stable.
  • Degradation of elastic fibers is linked to reduced tissue resilience and the aging process.

Purpose of the Study:

  • To review the structural aspects of the elastin molecule and its assembly.
  • To highlight how elastin alterations contribute to human diseases.
  • To discuss potential therapeutic strategies for elastin insufficiency disorders.

Main Methods:

  • Literature review focusing on elastin structure, assembly, and genetic alterations.
  • Analysis of genetic mutations in the elastin (ELN) gene and their disease associations.
  • Review of current and emerging therapeutic approaches for elastin-related conditions.

Main Results:

  • Rare mutations in the elastin (ELN) gene can lead to diseases by affecting protein levels (dosage) or function.
  • Specific ELN gene alterations are associated with conditions such as supravalvar aortic stenosis, Williams Beuren syndrome, and autosomal dominant cutis laxa.
  • The review consolidates understanding of elastin's role in tissue integrity and disease pathogenesis.

Conclusions:

  • Understanding elastin's molecular properties and assembly is key to comprehending associated human diseases.
  • Genetic variations in elastin significantly impact tissue function and lead to various pathologies.
  • Targeted therapies for elastin insufficiency disorders hold promise for improving patient outcomes.