Abstract for presentation at The Australian and New Zealand Association of Neurologists Annual Scientific Meeting 2007

Hsp60 Gene Mutations in Patients with Hereditary Spastic Paraplegia: A Pilot Study

  • Miss Stephanie Barnes, Departments of Neurology and Neurogenetics, Kolling Institute, Royal North Shore Hospital and University of Sydney, Australia
  • Prachi Mehta, Departments of Neurology and Neurogenetics, Kolling Institute, Royal North Shore Hospital and University of Sydney, Australia
  • Dr Himesha Vandebona, Departments of Neurology and Neurogenetics, Kolling Institute, Royal North Shore Hospital and University of Sydney, Australia
  • Carolyn Sue, Departments of Neurology and Neurogenetics, Kolling Institute, Royal North Shore Hospital and University of Sydney, Australia

    • Introduction: Hereditary spastic paraplegia (HSP) comprises a group of neurodegenerative disorders characterised by gradual degradation of the corticospinal axons resulting in limb weakness and spasticity. Mutations in 13 known genes have been found to be pathogenic in this condition. Mutations in the mitochondrial chaperonin heat shock protein 60 (Hsp60) are associated with SPG13, an autosomal dominant uncomplicated form of HSP.
    Aim: To identify mutations in the Hsp60 gene in patients with HSP.
    Methods: We amplified the 12 exons of the Hsp60 gene in 15 Australian patients with HSP using conventional PCR methods and known intronic primer sequences. We then performed direct sequencing of the purified PCR products and carried out sequence analysis using BioEdit Sequence Alignment Editor software.
    Results: We found two neutral polymorphisms: one in exon 3 (G333A) and the other in exon 12 (G2074A). We did not identify any pathogenic mutations in any of the coding regions in the genomic DNA from our patients.
    Conclusions: No pathogenic mutations in the Hsp60 gene were found to be the cause of HSP in our fifteen Australian patients. More studies are warranted to determine the frequency of mutations in the Hsp60 gene in patients with HSP.

    Conference Organiser - ICMS Pty Ltd