Parkinson's disease mutant Miro1 causes mitochondrial dysfunction and dopaminergic neuron loss.

ABSTRACT: The complex and heterogeneous nature of Parkinson's disease (PD) is still not fully understood. However, increasing evidence supports mitochondrial impairment as a major driver of neurodegeneration. Miro1, a mitochondrial GTPase encoded by the RHOT1 gene, is involved in mitochondrial transport, mitophagy and mitochondrial calcium buffering, and is therefore essential for maintaining mitochondrial homeostasis. Recently, Miro1 has been linked genetically and pathophysiologically to PD, further supported by the identification of heterozygous variants of Miro1 in patients. Herein, we used patient-derived cellular models alongside knock-in mice to investigate Miro1-dependent pathophysiological processes and molecular mechanisms underlying neurodegeneration in PD. Experimental work performed in

SUBMITTER: Chemla A 

PROVIDER: S-EPMC12493065 | biostudies-literature | 2025 Oct

REPOSITORIES: biostudies-literature