Mutations in the Notch pathway alter the patterning of multifidus

Rebecca E. Fisher, Heather F. Smith, Kenro Kusumi, Erica E. Tassone, Alan Rawls, Jeanne Wilson-Rawls

Research output: Contribution to journalArticle

4 Citations (Scopus)

Abstract

Clinical studies have suggested that defects in the epaxial muscles, particularly multifidus, may contribute to the etiology of idiopathic scoliosis. While the epaxial muscles and the vertebrae derive from the same embryonic segmentation process, the mechanisms that pattern the multisegmental back muscles are still unclear. The process of segmentation is regulated by the Notch signaling pathway, and mutations in the modulators delta-like 3 (Dll3) and lunatic fringe (Lfng) are genetic models for spinal disorders such as scoliosis. Osteological defects have been characterized in these genetic models, but myological phenotypes have not previously been studied. We analyzed the multifidus muscle in the mouse (Mus musculus) and observed intriguing changes in the cranio-caudal borders of multifidus in Dll3 and Lfng models. Statistical analysis did not find a significant association between the majority of the multifidus anomalies and the vertebral defects, suggesting a previously unappreciated role for Notch signaling in patterning epaxial muscle groups. These findings indicate an additional mechanism by which DLL3 and LFNG may play a role in the etiology of human idiopathic scoliosis.

Original languageEnglish (US)
Pages (from-to)32-39
Number of pages8
JournalAnatomical Record
Volume295
Issue number1
DOIs
StatePublished - Jan 2012

Fingerprint

Paraspinal Muscles
mutation
scoliosis
Scoliosis
muscle
Muscles
muscles
Mutation
Genetic Models
defect
etiology
segmentation
Back Muscles
back (body region)
Mus musculus
Spine
vertebrae
phenotype
clinical trials
Phenotype

Keywords

  • Delta-like 3
  • Idiopathic scoliosis
  • Lunatic fringe
  • Multifidus
  • Notch

ASJC Scopus subject areas

  • Anatomy
  • Histology
  • Ecology, Evolution, Behavior and Systematics
  • Biotechnology

Cite this

Mutations in the Notch pathway alter the patterning of multifidus. / Fisher, Rebecca E.; Smith, Heather F.; Kusumi, Kenro; Tassone, Erica E.; Rawls, Alan; Wilson-Rawls, Jeanne.

In: Anatomical Record, Vol. 295, No. 1, 01.2012, p. 32-39.

Research output: Contribution to journalArticle

Fisher, Rebecca E. ; Smith, Heather F. ; Kusumi, Kenro ; Tassone, Erica E. ; Rawls, Alan ; Wilson-Rawls, Jeanne. / Mutations in the Notch pathway alter the patterning of multifidus. In: Anatomical Record. 2012 ; Vol. 295, No. 1. pp. 32-39.
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