Molecular biology of otosclerosis

Adv Otorhinolaryngol. 2007:65:68-74. doi: 10.1159/000098674.

Abstract

Otosclerosis is a bone disease of the human otic capsule, which is among the most common causes of acquired hearing loss. The pathologic process is characterized by a wave of abnormal bone remodeling in specific sites of predilection within the endochondral layer of the temporal bone. Although the cause of otosclerosis remains uncertain, there is a clear genetic predisposition with half of all cases occurring in families with more than one affected member. There is also compelling evidence that measles virus may play a role in some cases. Ultimately, how genetic factors and viral infection result in otosclerosis must be explained by effects on the molecular factors that control bone remodeling.

Publication types

  • Research Support, N.I.H., Extramural
  • Review

MeSH terms

  • Bone Remodeling / genetics
  • Cartilage / pathology
  • Ear, Middle / pathology
  • Gene Expression / physiology
  • Genetic Predisposition to Disease / genetics
  • Humans
  • Measles virus / genetics
  • Osteoblasts / pathology
  • Osteoprotegerin / genetics
  • Otosclerosis / genetics*
  • Otosclerosis / pathology
  • RANK Ligand / genetics
  • RNA, Viral / genetics
  • Receptor Activator of Nuclear Factor-kappa B / genetics
  • Temporal Bone / pathology

Substances

  • Osteoprotegerin
  • RANK Ligand
  • RNA, Viral
  • Receptor Activator of Nuclear Factor-kappa B
  • TNFRSF11A protein, human
  • TNFSF11 protein, human