Comprehensive Phenotype and Treatment Description of Mitochondrial Diabetes: Insights From a Large Cohort Study
Authors' conclusion
mtDB is frequently misdiagnosed as type 2 diabetes and is associated with multisystem comorbidities. Earlier recognition and individualized management strategies are essential to improve outcomes.
Study context
- Population
- Patients with diabetes and confirmed mitochondrial mutations, predominantly MT-TL1 m.3243A>G; monogenic diabetes genes incl. MODY variants not evaluatedpredominantly MT-TL1 m.3243A>G 28
- Participants
- 30 patients
- Outcome
- Phenotype, glycemic control and treatment of mtDB
Methodological detailsdescriptive, Monogenic diabetes genes, including MODY-associated variants, were not evaluated
- Descriptive
- Monogenic diabetes genes, including MODY-associated variants, were not evaluated
Main finding
As reported in the abstract
- Female
- 63.3%
- Mean age at diabetes diagnosis, females (years)
- 38.0 (±13.0)
- Mean age at diabetes diagnosis, males (years)
- 34.6 (±13.7)
- Initially misdiagnosed with T2D
- More than 70%
- Average diagnosis delay from diabetes diagnosis (years)
- 9.3
- Mean BMI at diagnosis (kg/m²)
- 25 (±11.3)
- Maintaining HbA1c <8%
- more than 90%
- Treatment modality (insulin vs noninsulin) did not significantly impact HbA1c; mean HbA1c
- 6.85%
- Mean survival after mitochondrial diabetes (mtDB) diagnosis (years)
- 8 (±10.3)
- Died from mitochondrial disorder-related complications
- 4 patients
Observational data: associations, not effects.
Original publication
Comprehensive Phenotype and Treatment Description of Mitochondrial Diabetes: Insights From a Large Cohort Study. Endocr Pract. Published 30 January 2026. doi:10.
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