Category: Parkinson's Disease: Genetics
Objective: We aimed to systematically evaluate the genetic associations of Miro1 and Miro2 with PD in a large Chinese cohort.
Background: Miro1 has been identified to be a novel causative gene of Parkinson’s disease (PD). However, no large cohort study has been conducted to confirm the association.
Method: We analyzed rare variants of Miro1 and Miro2 in 2063 PD patients with whole exome sequencing. The over-representation of rare variants in patients was examined with Fisher’s exact test at allele and gene levels.
Results: A total of 15 rare variants in Miro1 were identified in 20 individuals, including one stop-gained variant and 14 missense variants. Fourteen variants were ultra-rare in the East Asian population, and 10 variants were absent in public datasets from gnomAD and ChinaMap. Among the 14 missense variants, 6 variants were predicted to be damaging by at least 5 in-silico prediction tools. At variant level, p.Ser95Asn was nominally associated with a higher risk of PD. Thirty-four rare variants in Miro2 were identified in 62 individuals, including one splice donor variant, one frameshift variant, and 32 missense variants. Thirty-one variants were ultra-rare in the East Asian population, and 10 variants were absent in public datasets from gnomAD and ChinaMap. Among the 32 missense variants, 15 variants were predicted to be damaging by at least 5 in-silico prediction tools. At variant level, p.Lys403Asn was significantly associated with a higher risk of PD, while p.Val131Met, p.Val312Met, p.Pro357Ser, and p.Leu367Val were nominally associated with a higher risk of PD. Gene-based burden analysis did not detect enrichment of rare variants or ultra-rare variants of Miro1 or Miro2 in PD.
Conclusion: We detected a series of rare variants of Miro1 and Miro2 in a large Chinese PD cohort, which supplemented the evidence on the role of Miro1 and Miro2 in PD. Further studies and functional experiments are required for validation the pathogenicity of these variants detected in our study.
To cite this abstract in AMA style:
J. Lin, C. Li, D. Pang, R. Ou, Q. Wei, Y. Xiao, T. Yang, Y. Gao, S. Wang, Q. Jiang, J. Liu, Y. Tan, J. Huang, Y. Ma, W. Song, X. Chen, B. Zhao, J. Yang, Y. Cui, H. Shang. Mutation screening of Miro1 and Miro2 in Parkinson’s disease [abstract]. Mov Disord. 2026; 41 (suppl 1). https://www.mdsabstracts.org/abstract/mutation-screening-of-miro1-and-miro2-in-parkinsons-disease/. Accessed October 1, 2026.« Back to 2026 International Congress
MDS Abstracts - https://www.mdsabstracts.org/abstract/mutation-screening-of-miro1-and-miro2-in-parkinsons-disease/