Figure 2

(A) Pedigree summarizing molecular analysis of CLN5 and POLG1 in proband and her parents. (B) Results of real-time PCR analysis of relative mtDNA copy number in peripheral blood from the proband, her parents, an unrelated CLN5 patient with a typical clinical course, and normal controls. Ages are noted in parentheses. Data are shown as the mean ± SEM of triplicate measurements; *, P < 0.01, **, P < 0.05, two-tailed t test. (C) Relative mtDNA copy number in cultured skin fibroblasts from the proband, unrelated CLN5 patient, and normal control (GM8330). Fibroblasts were grown under standard conditions (25 mM glucose) or under conditions of metabolic stress (25 mM galactose). Data are shown as the mean ± SEM of triplicate measurements; *, P < 0.05, two-tailed t test. (D) Measurement of relative mitochondrial membrane potential using the ratiometric dye JC-1 in fibroblast lines from the proband, an unrelated CLN5 patient with a typical clinical course, and a normal control subject (GM8330). E₆₀₀ is the emission peak corresponding to normal mitochondrial polarization; E₅₃₅ is the emission peak corresponding to depolarization. Data are shown as the mean ± SEM of triplicate measurements; *, P < 0.01, two-tailed t test.