Controversies in RELN/reelin expression in otosclerosis

Péter Csomor, I. Sziklai, T. Karosi

Research output: Contribution to journalArticle

4 Citations (Scopus)

Abstract

Several studies have reported a potential genetic association between disease-specific single nucleotide polymorphism (SNPs) of RELN and otosclerosis and confirmed RELN expression in human stapes footplates. These are conflicting results, since RELN expression has been attributed exclusively to neural tissues and to odontoblasts. Otosclerosis is a disease of complex bone remodeling disorder, which is limited to the human otic capsule. Genetic predisposition has long been suspected, however, the pathogenesis remained unclear. Ankylotic stapes footplates (n = 85), cortical bone fragments (n = 4), hearing ossicles (n = 2) and human brain tissue specimens (n = 4) were processed to RELN-specific RT-PCR and reelin-specific immunofluorescent assay (IFA). The first group of ankylotic stapes footplates (n = 22) showed a consistent positive reaction against reelin by IFA; however, RELN-specific mRNA could not be detected in the second, RT-PCR group (n = 63). Brain specimens were characterized by robust expression of reelin (n = 2) and RELN-specific mRNA (n = 2). In case of bone-specific controls (n = 6), reelin/RELN expression was excluded obviously. Concerning current observations, RELN gene does not show active expression in adult stapes footplates. Since, the otic capsule surrounds a special neural structure (membranous labyrinth), reelin might play a coordinative role in the early embryonic stage of development. As being a part of the otic capsule, stapes footplate might be characterized by persisting reelin detectability without mRNA expression. Between these conditions, the etiologic role of RELN is questionable in the pathogenesis of otosclerosis.

Original languageEnglish
Pages (from-to)431-440
Number of pages10
JournalEuropean Archives of Oto-Rhino-Laryngology
Volume269
Issue number2
DOIs
Publication statusPublished - Feb 2012

Fingerprint

Stapes
Otosclerosis
Capsules
Ear
Messenger RNA
Odontoblasts
Polymerase Chain Reaction
Bone Remodeling
Brain
Inner Ear
Genetic Predisposition to Disease
Hearing
Embryonic Development
Single Nucleotide Polymorphism
Bone and Bones
Genes

Keywords

  • Disease-association
  • Otosclerosis
  • Otosclerosis genes
  • Pathogenesis
  • Reelin
  • RELN

ASJC Scopus subject areas

  • Otorhinolaryngology

Cite this

Controversies in RELN/reelin expression in otosclerosis. / Csomor, Péter; Sziklai, I.; Karosi, T.

In: European Archives of Oto-Rhino-Laryngology, Vol. 269, No. 2, 02.2012, p. 431-440.

Research output: Contribution to journalArticle

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