Bridging pleiotropic mechanisms in leprosy type-1 reactions and neurodegenerative diseases.

ABSTRACT: Leprosy is an infectious disease of the skin and peripheral nervous system. Sudden episodes of hyperinflammation, known as Type 1 Reactions (T1R), are a main contributor to permanent nerve damage in leprosy. The genetic component associated with the neuro-inflammatory phenotype of T1R displays pleiotropic effects with Parkinson's disease (PD). In this study, we explored the genetic overlap between PD and T1R and expanded the evaluation of pleiotropic effects between T1R and other neurodegenerative disorders. We replicated the association of PD-linked rare variants in PRKN with T1R in Vietnamese leprosy patients. Analysis of 24 PD associated-genes revealed compound effects between rare protein-altering variants and T1R in the interacting genes PRKN/PINK1 (P = 2.7^-05; OR = 4.0) an

SUBMITTER: Fava VM 

PROVIDER: S-EPMC12749272 | biostudies-literature | 2025 Dec

REPOSITORIES: biostudies-literature