Table 2.

Characteristics of the cohort of all adult m.3243A>G carriers and their family-matched controls

		All carriers (n = 97)				Family-matched controls (n = 30)				Difference
		Central value	Spread	Range	n	Central value	Spread	Range	n	p
Gender	% female	71			97	73			30	1.00
Age (years)	Mean, 95%CI	45	17–72	18–81	97	41	20–68	18–68	30	0.518
BMI (kg/m2)	Median, IQR	22.8	20.7–26.0	16.7–40.9	97	24.0a	19.7–33.0	19–37	30	0.004
Smoking (current)	% yes	22			84	8			13	0.286
Diabetes mellitus (prevalence)	% yes	39			97	7			30	0.001
Heteroplasmy percentage, leukocytes (%)	Median, IQR	17	8–26	2–49	95	1	0–3	0–3	30	<0.001
Heteroplasmy percentage, UEC (%)	Median, IQR	45	27–69	4–96	95	1	0–2	0–2	29	<0.001
NMDAS score	Mean, 95%CI	12a	1–67	0–56	97	3a	0–17	0–22	30	<0.001
QoL mental	Median, IQR	48	41–55	25–66	97	49	33–64	31–65	30	0.314
QoL physical	Median, IQR	41	33–51	17–61	97	51	43–56	33–64	l	<0.001
[GDF15] (pg/mL)	Mean, 95%CI	1,525a	411–5,691	333–7,421	97	490a	272–1,616	236–1,687	30	<0.001
[FGF21] (pg/mL)	Median, IQR	263	142–534	3–1,491	93	13	0–444	3–1,072	25	<0.001

Characteristics for all adult carriers (n = 97) at baseline and for the family-matched controls (n = 30). P-values for the difference at baseline between the family-matched controls and all carriers were calculated (difference at baseline; χ-square test (2 sided); Fisher’s exact test (2 sided), Mann–Whitney U test; independent sample t-test). The presence of diabetes mellitus was obtained from the NMDAS scale (score on diabetes mellitus item 3)

BMI body mass index, 95%CI 95% confidence interval, GDF15 growth and differentiation factor 15, IQR interquartile range, n number of carriers/controls of which data were available, NMDAS Newcastle mitochondrial disease adult scale, UEC urinary epithelial cells

^aLognormal distribution