A preliminary report on spinal muscular atrophy lymphoblastoid cell lines: Are they an appropriate tool for drug screening?


Dayangac-Erden D. , Topaloglu H., Erdem-Yurter H.

ADVANCES IN THERAPY, vol.25, no.3, pp.274-279, 2008 (Journal Indexed in SCI) identifier identifier identifier

  • Publication Type: Article / Article
  • Volume: 25 Issue: 3
  • Publication Date: 2008
  • Doi Number: 10.1007/s12325-008-0030-1
  • Title of Journal : ADVANCES IN THERAPY
  • Page Numbers: pp.274-279
  • Keywords: histone deacetylase inhibitors, lymphoblastoid cell lines, phenylbutyrate, survival motor neuron gene, therapy, VALPROIC ACID INCREASES, GENE, DELETION, PROTEIN

Abstract

Introduction: Spinal muscular atrophy (SMA) is a neurodegenerative disease of the motor neurons that results in progressive muscle weakness. It is also the leading hereditary cause of infant mortality. Homozygous loss of the survival motor neuron (SMN1) gene causes SMA, and the number of copies of the SMN2 gene modulates the severity of the disease. Increasing the expression of the SMN2 gene by pharmacological agents is one of the therapeutic approaches currently being implemented.