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糖尿病、皮尔逊综合征和卡恩斯-塞尔综合征以及神经退行性疾病中线粒体功能障碍的分子机制

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

作者信息

Shafiee Amirmohammad, Akhlaghi Amir Ali, Ellstrom Abigail, Mohammadi Seyed Omid, Shafiee Alimohammad, Sathyamoorthy Mohanakrishnan

机构信息

Sathyamoorthy Laboratory in Department of Internal Medicine, Burnett School of Medicine at Texas Christian University, Fort Worth, TX, USA.

Burnett School of Medicine at Texas Christian University, Fort Worth, TX, USA.

出版信息

Int J Gen Med. 2025 Sep 11;18:5355-5366. doi: 10.2147/IJGM.S539967. eCollection 2025.

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.

摘要

线粒体功能障碍会导致与多种临床疾病状态相关的复杂病理生理改变,这些疾病包括癌症、心血管疾病、糖尿病和焦虑症。作为哺乳动物细胞内的关键细胞器,线粒体是细胞功能的能量来源,对细胞稳态和细胞死亡至关重要。在本报告中,我们回顾了线粒体功能障碍的关键分子原因,并讨论了其如何影响胰岛素抵抗、皮尔逊综合征和卡恩斯-塞尔综合征,后者是由于线粒体DNA中的致病变异导致直接细胞病理而发生的。我们讨论了受线粒体功能障碍影响的这些疾病的分子和细胞病理生理机制、疾病相互作用以及临床考量。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/05f2/12435500/278556628578/IJGM-18-5355-g0001.jpg

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