News Releases & Research Results Involvement of the gene responsible for lysosomal disease in the development of Parkinson's disease - Possibility of a novel therapy targeting a lysosomal-related protein -

The results of international collaborative research and development conducted by Professor Nobutaka Hattori, Associate Professor Taku Hatano, and Assistant Professor Yutaka Oji of the Department of Neurology, Juntendo University Graduate School of Medicine, Kawasaki Medical School, and Chang Gung University (Taiwan).

• The prosaposin gene responsible for lysosomal disease, a genetic disease causing various organ disorders due to protein gene abnormalities, was found to be involved in the development of Parkinson's disease.
• Specifically, three types of mutations were found in the saposin D region of the prosaposin gene in hereditary Parkinson's disease patients, while two polymorphisms are commonly detected in the same region in sporadic Parkinson's disease patients.
• Besides, iPS cells derived from Parkinson's disease patients carrying a mutation in the saposin D region showed accumulation and aggregation of α-synuclein, a protein characteristic of Parkinson's disease, suggesting that mice carrying a mutation in the saposin D region should serve as an animal model with the pathology of Parkinson's disease.
• The results of research and development should facilitate the elucidation of the pathology of Parkinson's disease and the development of new treatments and drugs.

This R&D project was conducted with the support of the Brain Mapping by Integrated Neuro-
technologies for Disease Studies and the Research Center Network for Realization of Regenerative Medicine by AMED.

The results of R&D were published online in the British scientific journal, Brain, on March 23.

Oji Y., et al. Variants in saposin D domain of prosaposin gene linked to Parkinson’s disease Brain
DOI：10.1093/brain/awaa064