Vanková M, Lukásová P, Zemanová A, Vcelák J, Vejrazková D, Mazura I, Bendlová B
Endokrinologický ústav, Praha.
Cas Lek Cesk. 2007;146(3):235-9.
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.
2型糖尿病是一种以葡萄糖稳态受损为特征的异质性疾病。这种疾病在家族中聚集，提示存在遗传易感性，但其潜在机制尚不清楚。许多研究表明，在这些家族中糖尿病的母系遗传更为常见。众多解释之一是线粒体仅通过母系遗传。线粒体是动力细胞器，通过呼吸链的氧化还原反应产生ATP分子。它们含有自己的基因组，该基因组编码呼吸链的亚基以及由该基因组编码的蛋白质的蛋白质合成装置。线粒体DNA的致病突变会影响呼吸链的活性，并导致各种表型。线粒体糖尿病通常与神经肌肉疾病相关，并且常表现为非自身免疫性β细胞功能衰竭。尽管线粒体突变与糖尿病有关，但其低发生率并不能解释所报道的2型糖尿病更频繁的母系遗传现象。
