在治疗过程中监测线粒体功能改善动态的新型分子遗传学方法。

IF 3.3 Q2 BIOCHEMISTRY & MOLECULAR BIOLOGY Frontiers in bioscience (Landmark edition) Pub Date : 2024-08-21 DOI:10.31083/j.fbl2908297
Mariya A Smetanina, Valeria A Korolenya, Maxim L Filipenko
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引用次数: 0

摘要

对线粒体功能障碍相关疾病患者进行正确的遗传学诊断在遗传学和临床上都具有挑战性,而根据评估线粒体状态的分子遗传学数据对这类患者进行进一步管理也具有挑战性。在这篇观点文章中,我们提出了一种新方法(可能会形成临床方案),即使用精确的分子遗传学工具,在治疗某些疾病期间,不仅通过体征和症状,还通过当前病情的分子遗传学基础,监测线粒体的状态(这反映了线粒体的功能)。这是个性化基因组医学在个人线粒体基因组信息和临床护理交叉点上的一个应用实例。拟议方法的优点是成本相对较低(与各种测序方法相比),能够使用遗传物质输入量较少的样本,而且速度快。当这一方法得到外界的积极评价,并获得该领域专家的认可(在标准方面)时,其他开发人员可能会采用这一方法,并将其引入临床实践。
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A Novel Molecular-Genetic Approach to the Monitoring of Dynamics of Mitochondrial Function Improvement during Treatment.

Making a correct genetically based diagnosis in patients with diseases associated with mitochondrial dysfunction can be challenging both genetically and clinically, as can further management of such patients on the basis of molecular-genetic data assessing the state of their mitochondria. In this opinion article, we propose a novel approach (which may result in a clinical protocol) to the use of a precise molecular-genetic tool in order to monitor the state of mitochondria (which reflects their function) during treatment of certain conditions, by means of not only signs and symptoms but also the molecular-genetic basis of the current condition. This is an example of application of personalized genomic medicine at the intersection of a person's mitochondrial genome information and clinical care. Advantages of the proposed approach are its relatively low cost (compared to various types of sequencing), an ability to use samples with a low input amount of genetic material, and rapidness. When this approach receives positive outside reviews and gets an approval of experts in the field (in terms of the standards), it may then be picked up by other developers and introduced into clinical practice.

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