Abstract for presentation at 11th International Congress of Human Genetics

Molecular Genetic Approaches Toward Understanding of multiple system atrophy (MSA)

  • Shoji Tsuji, Department of Neurology, The University of Tokyo Graduate School of Medicine, Japan
  • Kenju Hara, Brain Research Institute, Niigata University, Japan
  • Osamu Onodera, Brain Research Institute, Niigata University, Japan
  • Yoshio Momose, Department of Neurology, The University of Tokyo Graduate School of Medicine, Japan
  • Yasuo Nakahara, Department of Neurology, The University of Tokyo Graduate School of Medicine, Japan
  • Jun Goto, Department of Neurology, The University of Tokyo Graduate School of Medicine, Japan
  • Katsusi Tokunaga, Department of Human Genetics, The University of Tokyo Graduate School of Medicine, Japan

    • Multiple system atrophy (MSA) is a sporadic neurodegenerative disorder characterized by various combinations of parkinsonism, cerebellar ataxia and autonomic failure. The discovery of a characteristic pathological hallmark, glial cytoplasmic inclusions (GCIs), established MSA as a distinct neurodegenerative disorder. MSA comprises the most frequent form of sporadic spinocerebellar degenerations in the Japanese population. Although the discovery of α-synuclein as a major component of the GCIs may provide clues as to the pathogenesis, the etiologies of MSA remain to be elucidated.
    Although MSA has been regarded as a sporadic disease, we have recently experienced families in which multiple siblings are affected with MSA, suggesting involvement of genetic component in the pathogenesis of MSA. Based on this experience, we have started molecular genetic approaches to identify genes involved in MSA. We are focusing on the two approaches: 1. non-parametric and parametric linkage analyses on multiplex families with MSA, and 2. large-scale genome-wide association studies on sporadic MSA patients and controls. To accomplish this aim, we have established a consortium focusing on multiple system atrophy (Japan Multiple System Atrophy Research Consortium, JAMSAC). Based on JAMSAC, collection of large-scale cases and controls, as well as familial cases is in progress. Non-parametric linkage analyses on the MSA families conducted so far indicate loci suggesting linkage, but we need further collection of MSA families to obtain any conclusive results.

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