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 -
News Releases & Research Results
- 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.
The key results of R&D are as follows:
- 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
Last updated 02/19/20