Skip to main content

Table 1 Mitochondrial respiratory chain activities in patients with HUPRA syndrome

From: A new mutation in the gene encoding mitochondrial seryl-tRNA synthetase as a cause of HUPRA syndrome

  Skeletal muscle Fibroblasts
Enzyme II-1 II-2 C (mean ± SD)c II-2 C (mean ± SD)d
Citrate synthase (CS) a 455 298 550 ± 350 76 87 ± 13
Complex I b 14.8 19.5 15.9 ± 5.9 13.8 19.5 ± 3.9
Complex II b 14.0 11.0 12.5 ± 8.0 41.8 39.7 ± 2.5
Complex III b 73.7 34.8 68.8 ± 37.8 63.6 63.1 ± 6.5
Complex IV b 53.6 43.8 66.5 ± 36.5 74.8 86.3 ± 4.2
  1. aIn SA (SA is specific activity: nmol × min-1 × mg protein-1).
  2. bIn (SA of Complex / SA of Citrate Synthase) × 100.
  3. cSkeletal muscle from controls: N = 14.
  4. dFibroblasts from controls: N = 6.
  5. Bold data indicate that they are below the normal range.