Table 1 Human cohorts included in the quantitative meta-analysis of energy expenditure and related clinical phenotypes in patients with mitochondrial diseases (see Fig. 1).

From: OxPhos defects cause hypermetabolism and reduce lifespan in cells and in patients with mitochondrial diseases

Cohort #

Author (year)

N = (W/M)

Age

Genetics

Mutations

Clinical

Cohort 1

Taivassalo (2003)

40 Mito (22/18); 32 Ctrl (9/22)

37; 39

mtDNA (n = 35) nDNA (n = 5)

m.3243 A > G, m.8344 A > G, m.14710 G > A, m.5543 T > C, m.4409 T > C, m.14846 G > A, m.5920 G > A, ND2 and COXIII microdeletions, sDel, mDel, other (3), unknown (4)

CPEO, MELAS, MERRF, EI, mixed

Cohort 2

5a:Bates (2013)

5b:Newman (2015)

5c:Galna (2014)

5d: Gorman et al. Newcastle cohort

a:10 Mito (4/6); 10 Ctrl (4/6)

b:8 Mito (5/3)

c:6 Mito (1/5)

d:8 Mito (2/6)

a:42.4; 39.0

b:42

c:40.5

d:42

mtDNA

a:m.3243 A > G

b:m.3243 A > G

c:m.8344 A > G + 3243 A > G

d:sDel

SNHL, DM, Ei, AT, FT, DP, mixed

Cohort 3

Strauss (2013)

9 Mito (7/2); 28 Ctrl

14.6; 14.0

nDNA

SLC25A4 (ANT1) mutations (c.523delC, p.Q175RfsX38)

CM, EI, insomnia, DP, anxiety

Cohort 4

Delaney (2017)

21 Mito (15/6); 12 Ctrl (8/4)

44; 34

mtDNA

sDel, mDel, m.3243 A > G, m.10010 T > C, m.12261 T > C, ISCU, m.4281 A > G, CYTB, m.8344 A > G, m.5543 T > C

Mild to severe mixed

Cohort 5

MiSBIE

23 Ctrl (15/8); 12 Mito (8/4)

34.0; 32.9

mtDNA

m.3243 A > G

MELAS, mixed

Cohort 6

Jeppesen (2013)

10 Mito (6/4); 10 Ctrl (6/4)

39; 39

mtDNA

m.3243 A > G, 8344 A > T, 4409 T > C, 8340 G > A, 2-bp deletion, 12,113–14422, 7177–13767

CPEO, EI, HI, GI, Enc, SS, DM, ME, AT

Cohort 7

Jeppesen (2009)

10 Mito (5/5); 10 Ctrl (5/5)

39; 40

mtDNA

m.3243 A > G, m.8344 A > T, m.5543t > C, sDel

CPEO, EI, HI, GI, Enc, SS, DM, ME, AT

Cohort 8

Heinicke (2011)

5 Mito (2/3); 4 Ctrl (2/2)

42; 34

mtDNA, nDNA

m.3243 A > G, m.5543 T > C, m.14846 G > A, ISCU

Myopathy

Cohort 9

Grassi (2009)

15 Mito (7/8); 21 PCtrla (7/14); 22 Ctrl (9/13)

40.1; 38.3; 37.9

mtDNA

sDel, mDel, m.8344 A > G

Myopathy

Cohort 10

Porcelli (2016)

6 Mito (2/4)

51

mtDNA

mDel, sDel, m.3255 G > A, m.3243 A > G

Myopathy

Cohort 11

Grassi (2007)

6 Mito (1/5); 25 PCtrla (5/20); 20 Ctrl (8/12)

37.8; 31.6; 32.7

mtDNA

mDel, m.8344 A > G

Myopathy

Cohort 12

Hou (2019)

89 Mito (57/32)

30.4

mtDNA, nDNA

sDel, POLG, RRM2B, Twinkle, TK2, m.3243 A > G, m.8344 A > G, m.5541 C > T, m.10158 C > T

MELAS, CPEO

Cohort 13

Kaufman (2011)

31 Mito (16/15); 54 Ctrlb (15/39)

30; 38

mtDNA

m.3243 A > G

MELAS

Cohort 14

Barends (2015)

30 Mito (15/15)

50.4c

mtDNA, nDNA

m.3243 A > G, sDel, mDel, c.1635C > G, m.8344 A > G, m.13094 T > C, m.14709 T > C, m.5816 A > G, m.14484 T > C, m.12258 G > A, POLG mutations

MELAS, CPEO, KSS, MERRF, mixed

Cohort 15

Eom (2017)

221 Mito Pediatric

6.0c

mtDNA, nDNA

m.3243 A > G, LS mutations

LS, MELAS, mixed

Cohort 16

Wedatilake (2013)

44 Mito (20/24) Pediatric

<14c

nDNA

SURF1 mutations

Poor feeding/vomiting, PWG, DD, HT, MD, AT

Cohort 17

McFarland et al. Newcastle cohort

109 Mito (56/53)

48.1

mtDNA, nDNA

In addition to Cohort 14: AGK, ETFDH, m.10010 T > C, m.11778 G > A, m.13513 G > A, m.8993 T > C, m.8993 T > G, m.9176 T > C, m.9997 T > C, MRPL44, NDUFAF6, NDUFS1, RRM2B, SDHA, SURF1, TYMP

MELAS, PMM, MERRF, MIDD, MNGIE, KSS, CM, mixed

  1. ANT1 adenine nucleotide translocator 1, AT ataxia, CM cardiomyopathy, CPEO chronic progressive external ophthalmoplegia, DD developmental delay, Dm diabetes mellitus, DP depression, EI pure exercise intolerance, Enc encephalopathy, FT fatigue, GI glucose intolerance, HI hearing impairment, HT hypotonia, KSS Kearns-Sayre Syndrome, LS Leigh Syndrome, MD movement disorder, mDel multiple mtDNA deletions, ME myoclonic epilepsy, MELAS mitochondrial encephalopathy, lactic acidosis, stroke-like episodes, MERRF myoclonus epilepsy with ragged red fibers, MiSBIE mitochondrial stress, brain imaging, and epigenetics study, mtDNA mitochondrial DNA, nDNA nuclear DNA, PWG poor weight gain, sDel single, large-scale mtDNA deletion, SNHL sensorineural hearing loss, SS: short stature.
  2. aPCtrl: “patient controls” with symptoms of mitochondrial myopathy but with biopsy negative for primary mitochondrial disease.
  3. bControls were m.3243 A > G carrier relatives without MELAS.
  4. cBased on age at death. The number of women (W) and men (M) are shown in parentheses.
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