Global DNA methylation is not elevated in blood samples from Machado-Joseph disease mutation carriers

Figures & data

Table 1. Characterization of the participants (controls, preclinical subjects, and patients) used in this study.

	Controls	Preclinical subjects	Patients
Cross-sectional study (n=66)
n (Female; Male)	33^Ɨ (18; 15)	14 (8; 6)	19 (10; 9)
Age^1, years	38.8 ± 13.6 [18; 71]	30.0 ± 6.2 [21; 43]	45.9 ± 14.0 [17; 73]
Smoking status^2 (n)	S (14); F (3); N (16)	S (5); F (1); N (8)	S (9); F (2); N (8)
CAGn expanded allele^3	NA	68.2 ± 2.8 [64; 75]	69.3 ± 3.9 [62; 78]
Age at onset, years	NA	NA	37.6 ± 12.3 [16; 60]
Disease duration, years	NA	NA	8.6 ± 5.4 [1; 20]
SARA score	NA	0.7 ± 0.8 [0; 2]*	12.3 ± 7.9 [3; 28.5]*
Follow-up study (n=16)
n (Female; Male)	NA	6 (5;1)	10 (5;5)
Age baseline^4, years	NA	35.0 ± 7.6 [21; 43]	39.1 ± 13.2 [17; 66]
Age visit 1^5, years	NA	37.4 ± 6.8 [28; 47]	41.1 ± 14.5 [19; 71]
Smoking status^2 (n)	NA	S (2); F (0); N (4)	S (6); F (1); N (3)
CAGn expanded allele^3	NA	68.8 ± 3.3 [66; 75]	71.2 ± 3.3 [67; 78]
Age at onset, years	NA	NA	32.1 ± 10.3 [16; 50]
Disease duration 1^6, years	NA	NA	7.0 ± 6.3 [1;20]
Disease duration 2^7, years	NA	NA	10.0 ± 7.4 [1;23]

Continuous variables are shown as mean ± standard deviation [minimum; maximum]; ¹Age at blood collection; ²Smoking status in three categories: S (Smoker), F (Former smoker), N (Never smoked); ³Number of CAG repeats in expanded allele of MJD carriers; ⁴Age at first blood collection; ⁵Age at second blood collection; ⁶Disease duration at baseline in follow-up study; ⁷Disease duration at visit 1 in follow-up study; ^ƗAge (±3 years) and sex-matched paired controls for preclinical subjects and patients; *Information available for 10 patients and eight preclinical subjects; SARA = Scale for the assessment and rating of ataxia; NA, not applicable/not available.

Figure 1. Global 5-mC levels in MJD mutation carriers. (a) Box plots for the global 5-mC levels in 33 MJD mutation carriers (MJD) and age-, sex- and smoking status-matched healthy controls (CTRL). (b) Box plots for the global levels of 5-mC in 14 preclinical subjects (MJD-PC) and age-, sex- and smoking status-matched healthy controls (CTRL-PC). (c) Box plots for the global 5-mC in 19 MJD patients (MJD-P) and age-, sex- and smoking status-matched healthy controls (CTRL-P). (d) Box plots for the global levels of 5-mC in 14 preclinical subjects (MJD-PC) and 19 MJD patients (MJD-P).

Figure 2. Follow-up analysis of global 5-mC levels in MJD mutation carriers. 5-mC levels in the two collection timepoints (baseline and visit 1) for each MJD subject (n=16), including patients 6 preclinical carriers and 10 patients. The delta value is the difference of the global 5-mC % between visit 1 and the baseline for each MJD subject. MJD subjects with a decrease in global 5-mC levels are highlighted in bold.

Data availability statement

The data presented in this study are available on request to the corresponding author.