Table 1

Mutation load and brain phosphorus magnetic resonance (MR) spectroscopy data

Mutated mtDNA (%)Phosphorus MR spectroscopy
CaseAge/sexWhole bloodPlateletsLeucocytesLiver biopsyUrinary epithelium[PCr] (mM)[Pi] (mM)[ADP] (μM)PP (mM−1)
na, not available; PCr, phosphocreatine; Pi, inorganic phosphate; PP, phosphorylation potential (=[ATP]/[ADP]×[Pi]).
I-256/F562436nana3.301.284552
II-133/M1001001001001003.031.545238
II-225/F100100100na1002.781.585535
II-325/F100nanana1002.631.486133
ControlsMean (SD)4.39 (0.25)1.31 (0.13)29 (2)80 (6)
(n=36)(range)(3.97 to 4.78)(1.02 to 1.47)(24 to 33)(71 to 98)