Aberration of the spliceosome in amyotrophic lateral sclerosis

DOI Web Site 1 Citations 21 References
  • Ishihara Tomohiko
    Department of Neurology, Brain Research Institute, Niigata University Department of Molecular Neuroscience, Center for Bioresource-based Researches, Brain Research Institute, Niigata University
  • Kakita Akiyoshi
    Department of Pathological Neuroscience, Center for Bioresource-based Researches, Brain Research Institute, Niigata University
  • Takahashi Hitoshi
    Department of Pathology, Bioresource-based Researches, Brain Research Institute, Niigata University
  • Onodera Osamu
    Department of Molecular Neuroscience, Center for Bioresource-based Researches, Brain Research Institute, Niigata University
  • Nishizawa Masatoyo
    Department of Neurology, Brain Research Institute, Niigata University

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Other Title
  • ALSにおけるspliceosome異常
  • 皮質基底核変性症(CBD)と進行性核上性麻痺(PSP)の病理診断基準
  • ヒシツ キテイカク ヘンセイショウ(CBD)ト シンコウセイカク ジョウセイ マヒ(PSP)ノ ビョウリ シンダン キジュン

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Abstract

TDP-43 is a nuclear protein that plays a role in RNA metabolism, and its dysfunction has been implicated in the pathogenesis of amyotrophic lateral sclerosis (ALS), a typical adult-onset motor neuron disease. We investigated RNA metabolism in relation to TDP-43 function in neuronal tissues affected by ALS, and found a decrease in the number of nuclear GEM bodies, as well as reduced expression of minor spliceosomes, which are functional RNA-protein complexes. Similar features have been reported in spinal muscular atrophy (SMA), a motor neuron disease affecting infants. These findings, together with those reported in SMA, strongly suggest that reduction of minor spliceosomes has an important role in the pathomechanism underlying the selective degeneration of motor neurons characteristic of both ALS and SMA.

Journal

  • Rinsho Shinkeigaku

    Rinsho Shinkeigaku 54 (12), 1155-1157, 2014

    Societas Neurologica Japonica

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