MITOCHONDRIAL GENETICS AND HUMAN DISEASE: A COMPREHENSIVE REVIEW FROM GENETIC PRINCIPLES TO SYSTEMS BIOLOGY PERSPECTIVES: A NARRATIVE REVIEW

Mohammad Refat; Zahraa Melo; Ayat Satar; Shahlaa Loay Jawad; Fatima Kadhim Abbood; Zainab Muhammed Daher; Teeba Durade Maki; Amna Abdulkaream; Ali Ahmed Fakher; Ayoob Radhi Al-Zaalan

doi:10.61796/jmgcb.v3i6.1752

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Mohammad Refat Department of Medical Laboratory Technology, Southern Technical University, Iraq
Zahraa Melo Department of Medical Laboratory Technology, Southern Technical University, Iraq
Ayat Satar Department of Medical Laboratory Technology, Southern Technical University, Iraq
Shahlaa Loay Jawad Department of Medical Laboratory Technology, Southern Technical University, Iraq
Fatima Kadhim Abbood Department of Medical Laboratory Technology, Southern Technical University, Iraq
Zainab Muhammed Daher Department of Medical Laboratory Technology, Southern Technical University, Iraq
Teeba Durade Maki Department of Medical Laboratory Technology, Southern Technical University, Iraq
Amna Abdulkaream Department of Medical Laboratory Technology, Southern Technical University, Iraq
Ali Ahmed Fakher Department of Medical Laboratory Technology, Southern Technical University, Iraq
Ayoob Radhi Al-Zaalan
ayoob.r.tuama@stu.edu.iq
Department of Medical Laboratory Technology, Southern Technical University, Iraq

Vol. 3 No. 6 (2026): Journal of Medical Genetics and Clinical Biology

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April 21, 2026

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Objective: Mitochondrial diseases are a category of clinically diverse and difficult to diagnose disorders that are also challenging to treat. These disorders are caused by mutations of the mitochondrial DNA (mtDNA) or the nuclear DNA (nDNA), which encode mitochondrial and nuclear genes respectively. It is a complicated process in which these two genomes interact with some special genetic characteristics that determine the spectrum of clinical manifestations: the phenomenon of maternal inheritance, heteroplasmy, genetic bottleneck, makes the task of diagnosis a daunting endeavor. This review attempts to uncover the basic genetic concepts of the mitochondrial genome and the revolutionary role of bioinformatics and systems biology in the knowledge of mitochondrial pathology. Method: We explore the concept of the next-generation sequencing (NGS) technologies that have transformed the genetic diagnostics process, allowing to identify causative mutations fast. In addition, we discuss how multi-omics integration and computational modeling could be used to understand the complexity of molecular networks and pathways that are impaired in these diseases. Results: We demonstrate, using case study of particular mitochondrial diseases such as Leigh syndrome, Leber hereditary optic neuropathy (LHON) and mitochondrial cardiomyopathy, how such sophisticated methods are not only enhancing the accuracy of diagnosis but also leading to new treatment interventions. Novelty: Lastly, we explain the recent problems and perspectives of the field, with the prospects of a new era of personalized medicine to patients with mitochondrial disorders.

Refat, M., Melo, Z., Satar, A., Jawad, S. L., Abbood, F. K., Daher, Z. M., Maki, T. D., Abdulkaream, A., Fakher, A. A., & Al-Zaalan, A. R. (2026). MITOCHONDRIAL GENETICS AND HUMAN DISEASE: A COMPREHENSIVE REVIEW FROM GENETIC PRINCIPLES TO SYSTEMS BIOLOGY PERSPECTIVES: A NARRATIVE REVIEW. Journal of Medical Genetics and Clinical Biology, 3(6), 1–15. https://doi.org/10.61796/jmgcb.v3i6.1752

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