Objective: To screen the variants of UQCRC1 in Chinese patients with early onset PD (EOPD).

Background: Mitochondrial ubiquinol-cytochrome c reductase core protein 1 (UQCRC1) gene was recently identified to be a causative gene for autosomal dominant Parkinson’s disease (PD).

Method: A total of 682 EOPD patients were sequenced with whole exome sequencing and analyzed rare variants in UQCRC1 with minor allele frequency <0.1%.

Results: In total, 3 rare variants (including 2 novel) were found, including 1 (1/168, 0.59%) familial case and 2 (0.39%, 2/514) sporadic cases. Functional studies revealed that mutant variants compromised the activity of mitochondrial function. Furthermore, burden analysis revealed that EOPD patients did not have an excessive burden of rare variants.

Conclusion: In conclusion, our findings of the novel variants expanded the mutation spectrum of UQCRC1 in EOPD. Moreover, burden analysis indicated the lack of evidence for genetic associations of UQCRC1 and EOPD in the Chinese population.

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MDS Abstracts - https://www.mdsabstracts.org/abstract/rare-uqcrc1-variants-in-chinese-patients-with-early-onset-parkinsons-disease/