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. 2021 Mar 9;144(6):1819–1832. doi: 10.1093/brain/awab077

Figure 4.

Figure 4

Methylation and expression at the NOTCH2NLC locus. (A and B) Methylation status across the expanded GGC repeat region was determined using LRS data from three affected individuals (Patients F1-III8, F1-III10 and S1), 10 normal control subjects, and four NIID patients. (A) There were no significant differences between three affected individuals (Patients F1-III8, F1-III10 and S1) and 10 normal controls in methylation. (B) There were no significant differences in methylation between three affected individuals (Patients F1-III8, F1-III10 and S1) and four NIID patients. (C and D) Methylation analysis of the promoter region of expanded GGC repeats in the 5′UTR of the NOTCH2NLC gene in blood. Methylation levels were significantly increased in three asymptomatic carriers (Patients F-II5, F-II7 and father of Patient S2), compared with OPDM3 patients (Patients F-III8, S1 and S3) and controls (F-II2, F-II3 and mother of Patient S2). M = methylated; U = unmethylated. Ratio of methylation level of NOTCH2NLC to that of unmethylation level (M/U) was used to represent the relative methylation status. (E and F) Analysis of transcriptional levels of NOTCH2NLC mRNA in normal control subjects, OPDM3 patients and asymptomatic carriers by RT-qPCR in peripheral blood or muscle samples. No significant difference was detected between control subjects and OPDM3 patients (Patients F1-III8, F1-III10, S1 and S3), while asymptomatic carriers showed significantly lower NOTCH2NLC mRNA levels in peripheral blood (*P < 0.05) (E). The transcriptional levels of NOTCH2NLC mRNA were in an increasing trend in muscle samples (F) from two OPDM3 patients (Patients F1-III10 and S2).