Congenital bone fractures in spinal muscular atrophy: functional role for SMN protein in bone remodeling

J Child Neurol. 2007 Aug;22(8):967-73. doi: 10.1177/0883073807305664.

Abstract

Spinal muscular atrophy is the second most common fatal childhood disorder. Core clinical features include muscle weakness caused by degenerating lower motor neurons and a high incidence of bone fractures and hypercalcemia. Fractures further compromise quality of life by progression of joint contractures or additional loss of motor function. Recent observations suggest that bone disease in spinal muscular atrophy may not be attributed entirely to lower motor neuron degeneration. The presence of the spinal muscular atrophy disease-determining survival motor neuron gene (SMN), SMN expression, and differential splicing in bone-resorbing osteoclasts was recently discovered. Its ubiquitous expression and the differential expression of splice variants suggest that SMN has specific roles in bone cell function. SMN protein also interacts with osteoclast stimulatory factor. Mouse models of human spinal muscular atrophy disease suggest a potential role of SMN protein in skeletal development. Dual energy x-ray absorptiometry analysis demonstrated a substantial decrease in total bone area and poorly developed caudal vertebra in the mouse model. These mice also had pelvic bone fractures. Studies delineating SMN signaling mechanisms and gene transcription in a cell-specific manner will provide important molecular insights into the pathogenesis of bone disease in children with spinal muscular atrophy. Moreover, understanding bone remodeling in spinal muscular atrophy may lead to novel therapeutic approaches to enhance skeletal health and quality of life. This article reviews the skeletal complications associated with spinal muscular atrophy and describes a functional role for SMN protein in osteoclast development and bone resorption activity.

Publication types

  • Research Support, N.I.H., Extramural
  • Research Support, U.S. Gov't, Non-P.H.S.
  • Review

MeSH terms

  • Animals
  • Bone Development / genetics
  • Bone Remodeling / genetics*
  • Bone and Bones / metabolism
  • Bone and Bones / physiopathology*
  • Child
  • Cyclic AMP Response Element-Binding Protein / genetics
  • Cyclic AMP Response Element-Binding Protein / physiology*
  • Disease Models, Animal
  • Fractures, Bone / congenital*
  • Fractures, Bone / genetics*
  • Fractures, Bone / physiopathology
  • Humans
  • Intracellular Signaling Peptides and Proteins
  • Mice
  • Nerve Tissue Proteins / genetics
  • Nerve Tissue Proteins / physiology*
  • Osteoclasts / metabolism
  • Peptides / metabolism
  • RNA-Binding Proteins / genetics
  • RNA-Binding Proteins / physiology*
  • SMN Complex Proteins
  • Spinal Muscular Atrophies of Childhood / complications*
  • Spinal Muscular Atrophies of Childhood / genetics
  • Spinal Muscular Atrophies of Childhood / metabolism

Substances

  • Cyclic AMP Response Element-Binding Protein
  • Intracellular Signaling Peptides and Proteins
  • Nerve Tissue Proteins
  • Peptides
  • RNA-Binding Proteins
  • SMN Complex Proteins
  • osteoclast stimulating factor