Finsterer Josef
Neurology, Krankenanstalt Rudolfstiftung, Vienna, AUT.
Cureus. 2020 Feb 13;12(2):e6987. doi: 10.7759/cureus.6987.
One of the systems that are potentially affected in mitochondrial disorders, but hardly get systematically investigated, are the arteries. One of the phenotypic manifestations in arteries is atherosclerosis. This review focuses on the current knowledge and recent advances of mitochondrial atherosclerosis. We conducted a systematic literature review via PubMed using appropriate search terms. Atherosclerosis in mitochondrial disorders may result from a primary pathomechanism or a secondary one due to mitochondrial diabetes, arterial hypertension, or hyperlipidemia. Anecdotal reports show that primary atherosclerosis can be a phenotypic feature of mitochondrial disorders. Predominantly, patients carrying mutations in mtDNA-located genes may develop primary mitochondrial atherosclerosis. Though not systematically investigated, it is conceivable that primary mitochondrial atherosclerosis results from increased oxidative stress, mitophagy, metabolic breakdown, or lactic acidosis. Mitochondrial disorder patients with primary mitochondrial atherosclerosis should receive not only antithrombotic medication but also antioxidants and cofactors. Atherosclerosis in mitochondrial disorders may occur even in the absence of classical atherosclerosis risk factors, suggesting that atherosclerosis can be a primary manifestation of the metabolic defect. Though primary atherosclerosis in mitochondrial disorders has not been systematically investigated, anecdotal data indicate that mitochondrial dysfunction can be a mechanism for the development of primary, mitochondrial atherosclerosis. These patients require antioxidants and cofactors in addition to antithrombotic medication.
动脉是线粒体疾病中可能受到影响但几乎未得到系统研究的系统之一。动脉的表型表现之一是动脉粥样硬化。本综述聚焦于线粒体动脉粥样硬化的现有知识和最新进展。我们通过PubMed使用适当的检索词进行了系统的文献综述。线粒体疾病中的动脉粥样硬化可能源于原发性发病机制，也可能是由线粒体糖尿病、动脉高血压或高脂血症导致的继发性机制。轶事报道显示，原发性动脉粥样硬化可能是线粒体疾病的一种表型特征。主要地，携带线粒体DNA定位基因突变的患者可能会发生原发性线粒体动脉粥样硬化。尽管未进行系统研究，但可以想象原发性线粒体动脉粥样硬化是由氧化应激增加、线粒体自噬、代谢紊乱或乳酸性酸中毒引起的。患有原发性线粒体动脉粥样硬化的线粒体疾病患者不仅应接受抗血栓药物治疗，还应接受抗氧化剂和辅因子治疗。线粒体疾病中的动脉粥样硬化甚至可能在没有经典动脉粥样硬化危险因素的情况下发生，这表明动脉粥样硬化可能是代谢缺陷的主要表现。尽管线粒体疾病中的原发性动脉粥样硬化尚未得到系统研究，但轶事数据表明线粒体功能障碍可能是原发性线粒体动脉粥样硬化发生发展机制之一。除抗血栓药物外，这些患者还需要抗氧化剂和辅因子。
