Table 7 Summary of included studies for mitochondrial diabetes

From: Precision treatment of beta-cell monogenic diabetes: a systematic review

Mitochondrial diabetes caused by m.3243 A > G Cohort studies or case series (N = 242 (91 men, 146 women, NA: 5), see also the footnote)

Study ID

Number of participants

Sex (M/F)

Age (years)

Duration of diabetes (years)

Treatment before/after the genetic diagnosis

Intervention

Response

At diagnosis

At appraisal

Before

After

Guillausseau et al.59

77

31/46

38.8 ± 9.6

(12–67)

48.6 ± 10.2

(31–71)

11.0 ± 9.0

(0–37)

13 INS

64 non- INS

44 INS

21 SU and/or MET

12 LS

  

Esterhuizen et al.60

30

9/21

 

50.0 ± 9.6

  

22 INS

2 MET

10 SU

(partial overlap)

  

5a

     

3 INS, 1 OAD

  

bColclough et al.46

54

22/32

33.5

[26–39]

 

6 [2–15]

34 INS

8 INS + OAD

   

24

6/18

28

[22–34.5]

 

2 [1–7.5)

13 INS

2 INS + OAD

   

cSuzuki et al.61

28

13/15

38.7 ± 10.2

43.5 ± 12.3

  

14 INS, 8 OAD, 6 LS

(Coenzyme Q10)

C-peptide; no glycemic endpoints

16

8/8

39.6 ± 8.7

44.4 ± 9.8

  

8 INS, 4 OAD, 4 LS

(non-blinded control group)

 

Case reports combined

d(see foot-notes)

8

2/6

 

47.5

(32–72)

0–30

2 MET;1 AGI;

1 DPP4i+MET

1 INS; 2 GLP1RA;

1 SGLT2i; 2 DPP4i

1 SGLT2i+D PP4i; 1 TDD

  
  1. Data are shown as median (range) or [interquartile range] or mean ± SD; M/F M/F, number of male/female cases,NA not available, INS insulin, OAD oral antidiabetic agent, SU sulphonylurea, MET metformin, GLP1RA GLP1-receptor agonist, DPP4i DPP4 inhibitor, TDD thiazolidinedione, AGI Alpha-glucosidase inhibitor.
  2. a5 patients with diabetes and mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes (MELAS), not included in the 30 patients above.
  3. bGenetic testing laboratory serving clients globally; two subcohorts based on clinical suspicion of mitochondrial diabetes (N = 54) or MODY (N = 24).
  4. cA larger cohort described by Suzuki et al. in 2003 (PMID 12590018) included 113 patients with MD, of whom 86.1% required insulin. Because of potentially overlapping data, the table includes this open trial in 1998 with more detailed clinical data. To calculate the proportion of patients with MD on insulin, we used the larger cohort instead of the cohort in the table and excluded Colclough (2022) with no treatment data after the genetic diagnosis (resulting in a total cohort of N = 233).
  5. dLebbar (2021), Cosentino (2019), Keidai (2019), Ninomiya (2016), Lin (2022), Yeung (2021).
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