Molecular Aspects of Mitochondrial Dysfunction in Diabetes, Pearson and Kearns-Sayre Syndromes, and Neurodegenerative Disorders

糖尿病、皮尔逊综合征、卡恩斯-塞雷综合征和神经退行性疾病中线粒体功能障碍的分子机制

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Abstract

Mitochondrial dysfunction results in complex pathophysiological alterations associated with clinical disease states including cancer, cardiovascular diseases, diabetes mellitus, and anxiety disorders. As a key organelle within mammalian cells, the mitochondrion serves as the energetic source of cellular function which are crucial to cellular homeostasis, and cell death. In this report, we review key molecular causes of mitochondrial dysfunction and discuss how it influences insulin resistance, Pearson Syndrome and Kearns-Sayre syndrome, the latter of which occur due to pathogenic variants in mitochondrial DNA that lead to direct cellular pathology. We discuss the molecular and cellular pathophysiological mechanisms, disease interplays, and clinical considerations related to these diseases influenced by mitochondrial dysfunction.

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