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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.
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BMC Nephrology

ISSN: 1471-2369

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