Therapeutic options in a patient with MELAS and diabetes mellitus: follow-up after 6 months of treatment

  • C. CosentinoEmail author
  • M. Contento
  • M. Paganini
  • E. Mannucci
  • B. Cresci
Case Report

Mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes (MELAS) syndrome are a maternally inherited mitochondrial genetic disorder characterized by defective oxidative phosphorylation. The adenine-to-guanine transition at position 3243 in the MT-TL1 gene is the most common mutation of mitochondrial DNA found in patients with MELAS syndrome. As other mitochondrial disorders, MELAS syndrome can develop in the neonatal phase, childhood, or adulthood, and show a broad spectrum of clinical presentations. Neurological and muscular disturbances (i.e., stroke-like episodes, recurrent migrainous headaches, seizures, and muscle weakness with exercise intolerance) are the earliest and most frequent manifestations of the disease. However, mitochondrial diseases, including MELAS syndrome, are multi-organ disorders including cardiomyopathy, nephropathy, hypothyroidism, and diabetes (DM).

On January 2017, a 42-year-old woman, following a determination of fasting plasma glucose for...


MELAS Diabetes DPPIV inhibitors 


Compliance with ethical standards

Conflict of interest

The authors declare that they have no conflict of interest.

Ethical approval

All procedures performed in studies involving human participants were in accordance with the ethical standards of the institutional and/or national research committee with the 1964 Helsinki declaration and its later amendments or comparable ethical standards.

Informed consent

Informed consent was obtained from the patient included in the study.


  1. 1.
    Yatsuga S et al (2012) MELAS: a nationwide prospective cohort study of 96 patients in Japan. Biochim Biophys Acta 1820(5):619–624CrossRefGoogle Scholar
  2. 2.
    Divakaruni SA et al (2013) Thiazolidinediones are acute, specific inhibitors of the mitochondrial pyruvate carrier. Proc Natl Acad Sci USA 110(14):5422–7CrossRefGoogle Scholar
  3. 3.
    El-Hattab AW et al (2014) Glucose metabolism derangements in adults with the MELAS m.3243A > G mutation. Mitochondrion 18:63–69CrossRefGoogle Scholar
  4. 4.
    Maedler K et al (2005) Sulfonylurea induced beta-cell apoptosis in cultured human islets. J Clin Endocrinol Metab 90:501–506CrossRefGoogle Scholar
  5. 5.
    Artuso R et al (2015 Feb) Therapeutic implications of novel mutations of the RFX6 gene associated with early-onset diabetes. Pharmacogenomics J 15(1):49–54CrossRefGoogle Scholar

Copyright information

© Springer-Verlag Italia S.r.l., part of Springer Nature 2019

Authors and Affiliations

  1. 1.DiabetologyAzienda Ospedaliero-Universitaria Careggi and University of FlorenceFlorenceItaly
  2. 2.Department of Neurosciences, Drug Research, and Child’s HealthUniversity of FlorenceFlorenceItaly
  3. 3.Division Neurology 2, Careggi University HospitalUniversity of FlorenceFlorenceItaly

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