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Prevalence and treatment of mitochondrial diabetes in Southwest Finland

Rindell N, Immonen H, Martikainen MH

Journal of diabetes and metabolic disorders, 2026

1,004 participants

Abstract

Purpose: Diabetes mellitus (DM) is a common manifestation of mitochondrial disease, typically associated with the mitochondrial DNA (mtDNA) variant m.3243A>G. We investigated the clinical features, treatment, and epidemiology of mitochondrial DM in the region of Southwest Finland.

Methods: Electronic medical records at Turku University Hospital were searched for patients assigned ICD-10 codes E13.0-E13.9 during 2000-2022. Among 1004 screened individuals, nine patients with genetically confirmed mitochondrial diabetes were identified. Eight additional genetically confirmed patients were included from an ongoing mitochondrial disease research project, resulting in a cohort of 17 patients. The clinical characteristics and DM treatment of the patients were obtained from medical records.

Results: We identified 17 patients with mitochondrial DM. Mean age at diagnosis of DM was 35 years (range 11 to 60 years). Most patients with mitochondrial DM had hearing impairment (14/17). Insulin treatment was typically initiated 3.5 years after the diagnosis of DM. Only six (35%) patients had HbA1c below 7.0% (53 mmol/mol). The prevalence of mitochondrial DM in the region of Southwest Finland in the end of 2022 was 2.7/100,000 and annual incidence during the study period 0.14/100,000.

Conclusions: The onset of non-autoimmune diabetes in young adult age, particularly when associated with hearing impairment, suggests possible mitochondrial DM. Recognition of mitochondrial diabetes is essential…

How strong is the evidence?

Evidence Hub reads this as a cohort study, done in people. Its evidence level is 3 of 5 (Moderate · trial / cohort / secondary analysis). Trials without a large randomized design, cohorts and secondary analyses give moderate evidence. Reported size: 1,004 participants or records.

How the five levels of evidence work. The level is assigned automatically from the abstract and can be wrong, so check the paper.

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