Mitochondrial DNA heteroplasmy in human health and disease.
Mitochondrial DNA heteroplasmy in human health and disease.
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DOI：
10.3892/br.2016.590
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发表时间：
2016-03
影响因子：
2.3
通讯作者：
Kream RM
中科院分区：
文献类型：
--
作者：
Stefano GB;Kream RM
生物医学文献已经广泛地记录了遗传多态性在影响人类的主要转移性疾病的病因和进展中与特征明确的体细胞突变相一致的功能作用。线粒体异质性是遗传多态性和体细胞突变在个体线粒体DNA基因组中以不同比例的动态共同表达，具有重复的组织特异性模式。根据经典理论，从机制上讲，致癌细胞过程包括规范线粒体功能的深刻改变，特别是对有氧和无氧糖酵解的依赖，以及乳酸盐的异常产生和释放。在人类健康和疾病的翻译背景下，本综述讨论了建立旨在探索线粒体异质性在癌症生物学中的多种生物学作用的关键焦点的必要性。
The biomedical literature has extensively documented the functional roles of genetic polymorphisms in concert with well-characterized somatic mutations in the etiology and progression of major metastatic diseases afflicting human populations. Mitochondrial heteroplasmy exists as a dynamically determined co-expression of inherited polymorphisms and somatic mutations in varying ratios within individual mitochondrial DNA genomes with repetitive patterns of tissue specificity. Mechanistically, carcinogenic cellular processes include profound alterations of normative mitochondrial function, notably dependence on aerobic and anaerobic glycolysis, and aberrant production and release of lactate, according to a classic theory. Within the translational context of human health and disease, the present review discusses the necessity of establishing critical foci designed to probe multiple biological roles of mitochondrial heteroplasmy in cancer biology.