个性化医学在线粒体健康与疾病中的应用:基于营养补充剂及其类似物的治疗方法的分子基础。
Personalized Medicine in Mitochondrial Health and Disease: Molecular Basis of Therapeutic Approaches Based on Nutritional Supplements and Their Analogs.
机构信息
Department of Biosciences, Biotechnologies, Biopharmaceutics, University of Bari Aldo Moro, Via E. Orabona, 4, 70125 Bari, Italy.
Institute of Biomembranes, Bioenergetics and Molecular Biotechnologies (IBIOM), National Research Council (CNR), 70126 Bari, Italy.
出版信息
Molecules. 2022 May 29;27(11):3494. doi: 10.3390/molecules27113494.
Mitochondrial diseases (MDs) may result from mutations affecting nuclear or mitochondrial genes, encoding mitochondrial proteins, or non-protein-coding mitochondrial RNA. Despite the great variability of affected genes, in the most severe cases, a neuromuscular and neurodegenerative phenotype is observed, and no specific therapy exists for a complete recovery from the disease. The most used treatments are symptomatic and based on the administration of antioxidant cocktails combined with antiepileptic/antipsychotic drugs and supportive therapy for multiorgan involvement. Nevertheless, the real utility of antioxidant cocktail treatments for patients affected by MDs still needs to be scientifically demonstrated. Unfortunately, clinical trials for antioxidant therapies using α-tocopherol, ascorbate, glutathione, riboflavin, niacin, acetyl-carnitine and coenzyme Q have met a limited success. Indeed, it would be expected that the employed antioxidants can only be effective if they are able to target the specific mechanism, i.e., involving the central and peripheral nervous system, responsible for the clinical manifestations of the disease. Noteworthily, very often the phenotypes characterizing MD patients are associated with mutations in proteins whose function does not depend on specific cofactors. Conversely, the administration of the antioxidant cocktails might determine the suppression of endogenous oxidants resulting in deleterious effects on cell viability and/or toxicity for patients. In order to avoid toxicity effects and before administering the antioxidant therapy, it might be useful to ascertain the blood serum levels of antioxidants and cofactors to be administered in MD patients. It would be also worthwhile to check the localization of mutations affecting proteins whose function should depend (less or more directly) on the cofactors to be administered, for estimating the real need and predicting the success of the proposed cofactor/antioxidant-based therapy.
线粒体疾病 (MDs) 可能由影响核或线粒体基因的突变引起,这些基因编码线粒体蛋白或非蛋白编码的线粒体 RNA。尽管受影响的基因具有很大的变异性,但在最严重的情况下,观察到神经肌肉和神经退行性表型,并且没有针对疾病完全康复的特定治疗方法。最常用的治疗方法是基于抗氧化鸡尾酒的对症治疗,结合抗癫痫/抗精神病药物和多器官受累的支持性治疗。然而,抗氧化鸡尾酒治疗 MD 患者的实际效果仍需要科学证明。不幸的是,使用α-生育酚、抗坏血酸、谷胱甘肽、核黄素、烟酸、乙酰肉碱和辅酶 Q 的抗氧化治疗临床试验取得的成功有限。事实上,如果抗氧化剂能够针对导致疾病临床表现的特定机制(即涉及中枢和外周神经系统),则可以预期它们是有效的。值得注意的是,经常出现的 MD 患者的表型与功能不依赖于特定辅助因子的蛋白质的突变有关。相反,抗氧化鸡尾酒的给药可能会导致内源性氧化剂的抑制,从而对细胞活力产生有害影响和/或对患者产生毒性。为了避免毒性作用,并在进行抗氧化治疗之前,确定要在 MD 患者中给予的抗氧化剂和辅助因子的血清水平可能是有用的。检查影响其功能应(或多或少直接)依赖于要给予的辅助因子的蛋白质的突变的定位,以估计实际需求并预测所提议的辅助因子/抗氧化剂为基础的治疗的成功,也是值得的。