August 6, 2024
´ºÓêÖ±²¥app
Mie University
A research group has made significant strides in understanding Muro disease¨Da prevalent condition in the Kii Peninsula of Japan that manifests as an amyotrophic lateral sclerosis (ALS) and Parkinson's disease dementia complex. The group included Professor Hideyuki Okano (currently director of the ´ºÓêÖ±²¥app Regenerative Medicine Research Center) and Project Assistant Professor Nicolas Leventoux (currently a research scientist at RIKEN) from the Department of Physiology at the ´ºÓêÖ±²¥app School of Medicine, Assistant Professor Satoshi Morimoto (currently project associate professor at the ´ºÓêÖ±²¥app Frontier Research & Education Collaborative Square [K-FRECS]), Guest Professor Yasumasa Kokubo from the Mie University Graduate School of Regional Innovation Studies, and colleagues. By using induced pluripotent stem cell (iPS cell) models derived from Muro disease patients, the team successfully created astrocytes¨Dcells believed to play a crucial role in the disease¨Dand revealed a significant decrease in the expression ofCHCHD2, a gene and protein critical for mitochondrial function. Further, they identified a decline in the neuroprotective functions of these astrocytes, developed methods to restore these functions, and confirmed abnormalities inCHCHD2in astrocytes within the brains and spinal cords of actual patients.
For over 300 years since Muro disease was first documented, its cause has remained unknown. In a major step forward, researchers have employed patient-derived iPS cell models and advanced cell differentiation techniques to elucidate critical aspects of the disease's pathology, paving the way for iPS cell-based drug discovery.
This breakthrough sheds light on the previously enigmatic Muro disease¨Dan illness for which no animal disease models even existed¨Dsignificantly advancing our understanding and opening new avenues for developing treatment.
These research findings were published online on May 16, 2024, in the renowned scientific journalActa Neuropathologica, which focuses on the pathology and etiology of neurological disorders.
For further information, please refer to the following PDF file.