Otosclerosis: From Genetics to Molecular Biology

Otolaryngol Clin North Am. 2018 Apr;51(2):305-318. doi: 10.1016/j.otc.2017.11.002.

Abstract

Over the past several years, with the evolution of genetic and molecular research, several etiologic factors have been implicated in the pathogenesis of otosclerosis. Overall, current evidence suggests that otosclerosis is a complex disease with a variety of potential pathways contributing to the development of abnormal bone remodeling in the otic capsule. These pathways involved in the pathogenesis of otosclerosis are influenced by both genetic and environmental factors.

Keywords: Gene; Genetics; Otic capsule; Otosclerosis; Pathophysiology.

Publication types

  • Review

MeSH terms

  • Bone Remodeling / genetics
  • Ear, Inner / pathology
  • Gene Expression / physiology
  • Genetic Predisposition to Disease / genetics
  • Humans
  • Measles virus / pathogenicity
  • Osteoprotegerin / genetics
  • Otosclerosis / etiology
  • Otosclerosis / genetics*
  • Otosclerosis / pathology*
  • RANK Ligand / genetics
  • Temporal Bone / pathology

Substances

  • Osteoprotegerin
  • RANK Ligand
  • TNFRSF11B protein, human
  • TNFSF11 protein, human