Homozygous mutation of the LRRK2 ROC domain as a novel genetic model of parkinsonism
Journal
Journal of biomedical science
Journal Volume
29
Journal Issue
1
Pages
60
Date Issued
2022-12
Author(s)
Chen, Meng-Ling
Abstract
Parkinson's disease (PD) is one of the most important neurodegenerative disorders in elderly people. Mutations in the leucine-rich repeat kinase 2 (LRRK2) gene are found in a large proportion of the patients with sporadic and familial PD. Mutations can occur at different locations in the LRRK2. Patients with LRRK2 ROC-COR mutations face an increased risk of typical motor symptoms of PD, along with cognitive decline. An animal model with a monogenic LRRK2 gene mutation is a suitable model for exploring the pathophysiology of PD and identifying potential drug therapies. However, the effect of homozygous (HOM) LRRK2 in PD pathophysiology is unclear.
Subjects
Anxiety; Fission; GTPase activity; Gait; Homozygous; LRRK2; PET; Parkinsonism; R1441G
SDGs
Type
journal article