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Table 1 Characteristics of the donors of fibroblasts utilized in this study.

From: Altered Redox Mitochondrial Biology in the Neurodegenerative Disorder Fragile X-Tremor/Ataxia Syndrome: Use of Antioxidants in Precision Medicine

1D

Age (y)

CGG

Sex

Outcome

  

CONTROLS

 

C1

7

26

M

mtDNA

C2

8

30

M

CS, EPR, Metabol, mtDNA

C3

10

30

M

CS, Metabol, mtDNA, VDAC

C4

12

34

M

ACT, MDRS, OE, Metabol, mtDNA

C5

16

21

M

NT, MDA, mtDNA

C6

18

23

M

ACT, MDRS, Metabol, mtDNA

C7

20

29

M

ACT, mtDNA

C8

23

29, 30

F

NT, MDA, mtDNA

C9

24

30

M

NT, MDA, mtDNA

C10

25

29

M

NT, MDA, mtDNA

C11

26.3

30, 37

F

mtDNA

C12

29

30

M

NT, MDA, mtDNA

C13

29.1

29

M

ACT, MDRS, mtDNA

C14

33.7

23, 30

F

mtDNA

C15

34

N/A

M

mtDNA

C16

34

29

F

CS, mtDNA, VDAC

C17

36

30

M

ACT, MDRS, mtDNA, VDAC

C18

39

N/A

F

CS, Metabol

C19

40

N/A

F

CS, Metabol, mtDNA

C20

41.2

43

M

ACT, mtDNA

C21

46

N/A

F

ACT, Metabol

C22

59

21

M

mtDNA

C23

61

30

M

NT, MDA, mtDNA

C24

62

30

M

NT, MDA, mtDNA

C25

63

22

M

mtDNA

  

ASYMPTOMATIC PREMUTATION

PA1

8.4

150, 180

M

ACT, CS, EPR, Metabol, mtDNA, VDAC

PA2

8.4

157, 180

M

ACT, CS, EPR, Metabol, mtDNA, VDAC

PA3

9.7

31, 63

F

mtDNA

PA4

17.1

170

M

ACT, MDRS

PA5

17.3

16, 67

F

mtDNA

PA6

23.4

77

M

ACT, MDRS, OE

PA7

24

31, 93

F

mtDNA

PA8

24

30, 79

F

mtDNA

PA9

25

72

M

ACT, NT, MDA, mtDNA

PA10

33.1

30, 137

F

NT, MDA, mtDNA

PA11

33.5

133

M

VDAC

PA12

37

43, 78

F

CS, VDAC, Metabol, mtDNA

PA13

38.4

33, 60

F

NT, MDA, mtDNA

PA14

40.8

127

M

MDRS, mtDNA

PA15

40.8

150

M

NT, MDA

PA16

43

106

F

mtDNA

PA17

49.3

31, 86

F

NT, MDA, mtDNA

PA18

49.9

20, 98

F

VDAC, mtDNA

PA19

52

29, 81

F

mtDNA

PA20

54

133

M

ACT, MDRS, mtDNA, VDAC

PA21

55.4

30, 69

F

mtDNA

PA22

55.6

104

M

mtDNA

PA23

56

81

M

ACT, MDRS, mtDNA

  

SYMPTOMATIC PREMUTATION

PS1 (Stage N/A)

54

133

M

MDRS

PS2 (Stage N/A)

56

81

M

MDRS

PS3 (Stage 3)

59.1

33,107

F

ACT, NT, MDA, mtDNA

PS4 (Stage 1)

61.8

110,130

M

ACT, NT, MDA, mtDNA

PS5 (Stage 4)

62.5

105

M

VDAC, NT, MDA, mtDNA

PS6 (Stage 3)

63.0

102

F

mtDNA

PS7 (Stage 1)

63.1

60

M

ACT, VDAC, NT, MDA, mtDNA

PS8 (Stage N/A)

67

79

M

MDRS

  1. All samples were tested for polarography and citrate synthase activities. Other outcomes evaluated in each of the samples are indicated in the last column, for not all samples were available on a timely manner or their yield was limiting for some of the analyses. Western blots for voltage-dependent anion channel (VDAC), malondialdehyde crosslinked to Lys-containing proteins (MDA); nitrotyrosine (NT); citrate synthase activity before and after antioxidants treatment (CS); MDRS indicates the Western blots performed for selected proteins (namely, COX17, NDUFB7, MIA40, GFER and cytochrome c); overexpression of MIA40 (OE); identification and detection of oxygen-centered free radicals performed by electron paramagnetic resonance with the addition of spin trap (EPR); metabolomics studies (Metabol); mtDNA indicates evaluation of mtDNA copy number and deletions; Complex I, IV and citrate synthase activities (ACT). Abbreviations: N/A = not available.