News Releases & Research Results Important roles of the synapses in spinal and bulbar muscular atrophy - Elucidation of pathology and development of therapies by targeting neuromuscular junctions -

• The results of collaborative research and development led by Associate Professor Yohei Okada and Researcher Kazunari Onodera of the Division of Internal Medicine, Aichi Medical University; Keio University School of Medicine; Nagoya University Graduate School of Medicine; Niigata University Graduate School of Medical and Dental Sciences; and Tokyo Medical and Dental University and Tokyo University.

• A new disease model of Spinal and Bulbar Muscular Atrophy (SMBA)*, an intractable neurodegenerative disease, was developed by generating iPS cells from an SMBA patient and inducing their differentiation into motor neurons.
  *Intractable motor neurodegenerative disease that occurs in adult males, with gradually progressive dysphagia, weakness of limbs, and muscle atrophy.
• Comprehensive transcriptome analysis* demonstrated that pathological abnormalities of the synapses, i.e., contact structures to transmit neural information between neurons, were deeply involved in the neurodegeneration of spinal and bulbar muscular atrophy.
  *Gene expression analysis with all cell transcripts
• The results of  R&D should facilitate the understanding of the pathology of SMBA and the development of therapies targeting the synapses.

This R&D project was conducted with the support of the Practical Research Project for Rare/Intractable Diseases by AMED.

The results of R&D were published in Molecular Brain, a British scientific journal, on February 19.

Onodera K., et al. Unveiling synapse pathology in spinal bulbar muscular atrophy by genome-wide transcriptome analysis of purified motor neurons derived from disease specific iPSCs Molecular Brain
DOI：10.1186/s13041-020-0561-1