UQCRC1 sequencing result.xlsx

UQCRC1 variants in early-onset and familial Parkinson’s disease in a Taiwanese cohort </p

Data_Sheet_1_UQCRC1 variants in early-onset and familial Parkinson's disease in a Taiwanese cohort.docx

BackgroundA recent Taiwanese study reported variants of the ubiquinol-cytochrome c reductase core protein 1 (UQCRC1) gene linked to autosomal dominant parkinsonism with polyneuropathy. This study investigated the pathogenicity of UQCRC1 in a Taiwanese cohort of patients with Parkinson's disease (PD).MethodThis study involved 107 participants (98 with early-onset PD and nine with familial PD). All UQCRC1 coding exons and exon–intron boundaries were sequenced. The rarity and pathogenicity of the identified variants were analyzed. The carrier frequencies of our cohort and the Taiwan Biobank were compared through a Pearson's χ2 or Fisher's exact test along with Bonferroni corrections.ResultsThree missense variants (c.643G > C, p.D215H; c.800C > G, p.P267R, and c.923A > G, p.N308S) and seven rare variants were identified. No significant differences in the missense-variant carrier frequency were noted between our cohort and individuals in the Taiwan Biobank. Furthermore, no significant associations were noted between the variants and the risk of PD.ConclusionsOur study is not supporting a role of UQCRC1 variants in PD.</p

Mutation identification and amino acid sequence alignment.

<p><b>a</b> Chromatograms of direct cDNA sequencing of R767H, S885N and R1441H. <b>b</b> Restriction enzyme RFLP or ARMS analysis of R767H, S885N, R1441H mutations. On agarose gel, R767H results restriction by <i>Bsp</i>HI and leads to additional 419 and 154 bp bands, whereas R1441H prevents restriction by <i>Bst</i>UI and leads to an additional 715 bp band. <b>c</b> Evolutionary conservation of the regions of LRRK2 R767H, S885N and R1441H using the program Vector NTI.</p