Confirmation of the severe phenotypic effect of serine at codon 41 of the superoxide dismutase 1 gene

S. H. Subramony, Tetsuo Ashizawa, Leigh Langford, Robert McKenna, Balu Avvaru, Teepu Siddique, V. Vedanarayanan

Research output: Contribution to journalArticle

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Abstract

Introduction: A Gly41Ser mutation in the superoxide dismutase 1 gene (SOD1) has been reported to cause a very rapid course of amyotrophic lateral sclerosis (ALS) in a limited number of Italian patients, but a Gly41Asp mutation results in a more benign course. Methods: Four members of an African American family with autosomal dominant ALS were evaluated clinically over 12 years. Mutation analysis of SOD1 was done on 1 patient. Results: All patients had a pure lower motor neuron syndrome with onset to death in 9-15 months. A Gly41Ser mutation in SOD1 was established. In silico modeling suggested that this mutation can have a more deleterious effect than a Gly41Asp mutation. Conclusion: The more rapid course of ALS with the Gly41Ser SOD1 mutation is confirmed in a distinct ethnic group.

Original languageEnglish (US)
Pages (from-to)499-502
Number of pages4
JournalMuscle and Nerve
Volume44
Issue number4
DOIs
StatePublished - Oct 1 2011

Keywords

  • ALS
  • Disease course
  • Pathogenicity
  • Phenotype-genotype
  • Sod1 mutation

ASJC Scopus subject areas

  • Physiology
  • Clinical Neurology
  • Cellular and Molecular Neuroscience
  • Physiology (medical)

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    Subramony, S. H., Ashizawa, T., Langford, L., McKenna, R., Avvaru, B., Siddique, T., & Vedanarayanan, V. (2011). Confirmation of the severe phenotypic effect of serine at codon 41 of the superoxide dismutase 1 gene. Muscle and Nerve, 44(4), 499-502. https://doi.org/10.1002/mus.22117