Table 1

Percentage of 3243A→G mutation and the mean amount of mitochondrial DNA (copy number) in peripheral blood for 11 subjects

Patient demographics			Last cycle fluorescent PCR 3243A→G mutation (%)	Real-time PCR
Patient	Time between samples (years)	Age at sample (years)		mtDNA		nDNA		ΔCt	Mean mtDNA copy number/cell
Patient	Time between samples (years)	Age at sample (years)		Mean Ct	SD	Mean Ct	SD	ΔCt	Total copy number	Wild-type copy number	Mutated copy number
mtDNA, mitochondrial DNA; nDNA, nuclear DNA; PCR, polymerase chain reaction; ΔCt, difference between the threshold cycles for nDNA and mtDNA.
Mean percentage of mutated mtDNA was determined by the last cycle fluorescent PCR (undiluted, mean of three measurements from the genomic sample). Copy number measurements were determined by real-time PCR using iQ Sybr Green on the BioRad ICycler (mean of three measurements from the genomic sample). mtDNA: using a target template spanning from nucleotides 3459 to 3569 of the mtDNA ND1 gene; nDNA: using a target template spanning from nucleotide 804 to 903 of the single-copy nuclear gene GAPDH. Wild-type and mutated mtDNA copy numbers were determined from the mean total mtDNA copy number per cell, and the mean percentage mutated mtDNA. Relative copy number was calculated from the ΔCt value, 2(2^−ΔCt), to account for the two copies of glyceraldehyde-3-phosphate dehydrogenase in each mononuclear peripheral blood cell.
1	7.8	18.9	47.9	17.1	0.153	21.8	0.115	−4.6	49.6	25.9	23.8
		26.7	36.2	19.7	0.208	25.6	0.173	−5.9	122.2	78.0	44.2

2	5.3	59.1	7.7	22.6	0.153	28.4	0.289	−5.8	111.4	102.9	8.6
		64.4	6.9	14.9	0.115	21.5	0.200	−6.6	189.6	176.5	13.1

3	6.1	40.0	37.2	17.2	0.173	22.7	0.100	−5.5	90.5	56.8	33.7
		46.1	34.2	14.9	0.115	21.5	0.200	−6.6	189.6	124.7	64.8

4	5.7	24.9	39.2	18.4	0.058	23.0	0.252	−4.7	50.8	30.9	19.9
		30.6	32.4	15.7	0.058	20.6	0.100	−4.9	58.4	39.4	18.9

5	3.2	47.8	9.8	17.2	0.058	22.7	0.265	−5.5	88.4	79.8	8.7
		51.0	8.6	16.0	0.361	21.4	0.153	−5.4	82.5	75.4	7.1

6	5.4	48.0	14.8	18.0	0.153	23.0	0.100	−5.0	65.5	55.8	9.7
		53.4	12.7	15.6	0.265	20.9	0.200	−5.3	78.8	68.8	10.0

7	5.5	38.0	15.6	19.6	0.115	23.8	0.115	−4.2	36.8	31.0	5.7
		43.5	13.8	16.5	0.153	21.2	0.100	−4.7	53.2	45.9	7.3

8	5.7	35.0	13.2	26.2	0.289	30.5	0.000	−4.3	40.3	35.0	5.3
		40.7	12.6	16.1	0.153	21.9	0.115	−5.7	106.4	93.0	13.4

9	2.0	43.5	27.9	15.8	0.153	21.5	0.306	−5.6	99.3	71.6	27.7
		45.5	27.1	17.2	0.058	22.7	0.321	−5.5	90.5	66.0	24.5

10	5.1	44.0	15.8	15.3	0.153	20.7	0.208	−5.3	80.6	67.9	12.7
		49.1	10.5	16.1	0.208	21.6	0.231	−5.4	86.4	77.3	9.1

11	7.0	60.7	12.1	16.8	0.100	21.6	0.153	−4.8	54.4	47.9	6.6
		66.7	5.5	25.9	0.115	29.2	0.100	−3.3	20.2	19.1	1.1