Parkinson病の新規治療開発に挑む―バイオロジカルステージングの時代へ

抄録

Parkin (PRKN), identified in 1998 as the primary gene responsible for familial Parkinson disease (PD), is also the most common cause of young–onset PD. PRKN, which encodes a ubiquitin–protein ligase, plays a crucial role in mitophagy and mitochondrial quality control, alongside PTEN–induced putative kinase 1 (PINK1). The discovery of PRKN's role in PD has highlighted the importance of the proteolytic system in neurodegenerative diseases. Our research has further identified CHCHD2 and prosaposin (PSAP), both involved in the Parkin mechanism. With over 25 genes and loci linked to PD, it's clear that PD is a diverse group of diseases. Diagnosis is currently based on clinical symptoms and imaging, but early detection is crucial for effective treatment. Our group is also researching potential biomarkers for PD.