2026.09.25
Discovery of a Novel Genetic Variant Associated with Multiple System Atrophy (MSA)
A collaborative research group from Hiroshima University, Yamaguchi University, and Aichi Medical University has identified AGG repeat expansions in the BIN1 gene as a novel cause of multiple system atrophy (MSA), a intractable neurodegenerative disease. Using long-read whole-genome sequencing, the team revealed that this repeat expansion is highly prevalent in MSA patients and that BIN1 protein accumulates alongside $\alpha$-synuclein in the brain. These findings are expected to contribute significantly to elucidating the pathogenesis of MSA and to developing future diagnostic biomarkers and therapeutic targets.
- Division of Advanced Genome Editing Therapy
- Takeshi Itabashi (Department of Molecular and Cellular Physiology)
- Tatsuo Miyamoto (Department of Molecular and Cellular Physiology)
- Title: AGG Repeat Expansion and Aggregation of BIN1 in Multiple System Atrophy
- Authors: Kodai Kume*, Takashi Kurashige*, Takeshi Itabashi*, Akio Akagi, Takashi Ando, Masataka Nakamura, Mai Kikumoto, Atsushi Tamada, Masaki Kamada, Takashi Ayaki, Yuishin Izumi, Ichiro Yabe, Keiko Muguruma, Tatsuo Miyamoto, Yasushi Iwasaki, Hideshi Kawakami
- (*Co-first authors, Corresponding author)
- Journal: Brain
- DOI: https://doi.org/10.1093/brain/awag194
- Publication Date: August 28, 2026
- Research Inquiries:
- Takeshi Itabashi, Associate Professor
- Department of Molecular and Cellular Physiology, Graduate School of Medicine, Yamaguchi University
- TEL: +81-836-22-2209
- E-mail: itabashi@ ( followed by yamaguchi-u.ac.jp)
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- Public Relations / Media Inquiries:
- Research Institute for Cell Design Medical Science, Yamaguchi University
- (Institute Affairs Section, Academic Research and Life Science Support Division)
- TEL: +81-836-85-3065.
- E-mail: sh088@ ( followed by yamaguchi-u.ac.jp)