TY - JOUR

T1 - A Novel Molecular-Genetic Approach to the Monitoring of Dynamics of Mitochondrial Function Improvement during Treatment

AU - Smetanina, Mariya A

AU - Korolenya, Valeria A

AU - Filipenko, Maxim L

N1 - This research was funded by the Program of Fundamental Scientific Research of the Russian Federation (PFSR RF) "Fundamental Basics of Health Preservation", grant number 121031300045-2. © 2024 The Author(s). Published by IMR Press.

PY - 2024/8/21

Y1 - 2024/8/21

N2 - 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.

AB - 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.

KW - Humans

KW - DNA, Mitochondrial/genetics

KW - Genome, Mitochondrial/genetics

KW - Mitochondria/genetics

KW - Mitochondrial Diseases/genetics

KW - Precision Medicine/methods

KW - mtDNA heteroplasmy

KW - mtDNA

KW - treatment/recovery progress monitoring

KW - ND4-region mtDNA deletions

KW - mitochondrial DNA

KW - mtDNA copy number

UR - https://www.scopus.com/record/display.uri?eid=2-s2.0-85203114358&origin=inward&txGid=b56ba7332b8b9b038169cb1fddb6b083

UR - https://www.mendeley.com/catalogue/b95cec28-7655-371f-9336-82d203eec85b/

U2 - 10.31083/j.fbl2908297

DO - 10.31083/j.fbl2908297

M3 - Review article

C2 - 39206924

VL - 29

JO - Frontiers in Bioscience - Landmark

JF - Frontiers in Bioscience - Landmark

SN - 2768-6701

IS - 8

M1 - 297

ER -