SOD1 mRNA expression in sporadic amyotrophic lateral sclerosis

Stella Gagliardi, Emanuela Cova, Annalisa Davin, Stefania Guareschi, Kenneth Abel, Elena Alvisi, Umberto Laforenza, Roberta Ghidoni, John Richard Cashman, Mauro Ceroni, Cristina Cereda

Research output: Contribution to journalArticle

Abstract

The mutated Cu,Zn-superoxide dismutase gene (SOD1) (E.C. No. 1.15.1.1) is generally recognized as a pathological cause of 20% of the familial form of Amyotrophic Lateral Sclerosis (ALS). However, several pieces of evidence also show that wild-type SOD1, under conditions of cellular stress, is implicated in a significant fraction of sporadic ALS cases, which represent 90% of ALS patients. Herein, we describe an abnormally high level of SOD1 transcript in spinal cord, brain stem and lymphocytes of sporadic ALS patients. Protein expression studies show a similar or lower amount of SOD1 in affected brain areas and lymphocytes, respectively. No differences are found in brain regions (cerebellum and non-motor cerebral cortex) not involved in the ALS neurodegenerative processes. In this report, cell and disease specificity are shown since no mRNA SOD1 increase is observed in sporadic ALS fibroblasts or in lymphocytes of patients affected by Alzheimer's disease. These findings provide new insight and understanding of the pathologic causes of sporadic forms of ALS and allow a possible explanation for the molecular involvement of wild-type SOD1.

Original languageEnglish
Pages (from-to)198-203
Number of pages6
JournalNeurobiology of Disease
Volume39
Issue number2
DOIs
Publication statusPublished - Aug 2010

Keywords

  • Amyotrophic lateral sclerosis
  • Brain stem
  • Cerebellum
  • Fibroblasts
  • Lymphocytes
  • MRNA
  • Non-motor cerebral cortex
  • SOD1
  • Spinal cord

ASJC Scopus subject areas

  • Neurology

Fingerprint Dive into the research topics of 'SOD1 mRNA expression in sporadic amyotrophic lateral sclerosis'. Together they form a unique fingerprint.

Cite this