Genetic Background of Mitochondrial Diabetes
Vaňková M., Lukášová P., Zemanová A., Včelák J., Vejražková D., 1Mazura I., Bendlová B.
Endokrinologický ústav, Praha 1Přírodovědecká fakulta Univerzity Karlovy, Praha
Diabetes mellitus type 2 represents a heterogenous disease characterized by impaired glucose
homeostasis. The disorder clusters in families suggesting genetic disposition, however the mechanism
underlying is unknown. Many studies show more frequent maternal transmission of diabetes in the
families. One of huge range of explanation is exclusively maternal transmission of mitochondria.
Mitochondria are power organelles which produce ATP molecules by oxidation-reduction reactions via
the respiratory chain. They contain their own genome which codes subunits of the respiratory chain and
proteosynthetic apparatus for proteins encoded by this genome. Pathogenic mutations of mitochondrial
DNA can affect the activity of the respiratory chain and result in various phenotypes. Mitochondrial
diabetes is commonly associated with neuromuscular disorders and often presents with nonautoimmune
beta cell failure. Although mitochondrial mutations are associated with diabetes, their low frequency
does not explain reported more frequent maternal transmission of diabetes mellitus type 2.
mitochondrial DNA, mitochondrial diabetes, diabetes mellitus type 2, transfer RNA.