Mitochondrial DNA and Disease: Areview

Authors

  • Marwa Adel Hussein Forensic DNA Centre for Research and Training / AL-Nahrain University, Jadriya, Baghdad, Iraq
  • Ruaa Hameed Abdulridha Department of Applied Pathological Analyses; College of Science; Al-Nahrain University; Baghdad, Iraq
  • Ibtisam Jasim Sodani Forensic DNA Centre for Research and Training / AL-Nahrain University, Jadriya, Baghdad, Iraq.
  • Mais Adnan Al-Ward Forensic DNA Centre for Research and Training / AL-Nahrain University, Jadriya, Baghdad, Iraq.
  • May Ridha Jaafar Forensic DNA Centre for Research and Training / AL-Nahrain University, Jadriya, Baghdad, Iraq.
  • Hala Khalid Ibrahim Al-Sammarrie Forensic DNA Centre for Research and Training / AL-Nahrain University, Jadriya, Baghdad, Iraq.
  • Shahad Emad Neamah Forensic DNA Centre for Research and Training / AL-Nahrain University, Jadriya, Baghdad, Iraq.
  • Asmaa A. Jawad Forensic DNA Centre for Research and Training / AL-Nahrain University, Jadriya, Baghdad, Iraq.
  • Nadhum Hussen Safir Forensic DNA Centre for Research and Training / AL-Nahrain University, Jadriya, Baghdad, Iraq.

DOI:

https://doi.org/10.22401/476p9g15

Keywords:

Mitochondrial damage , Disease , Ribonucleic acid , Adenosine triphosphate

Abstract

Mitochondria are organelles responsible for converting energy into a usable form for cellular metabolic activities. These organelles have their own DNA. Mutations in mitochondrial DNA (mtDNA) are frequent despite Its limited number of genes. Molecular genetics diagnostics enables the examination of DNA in many fields, like infectiology, cancer, and genetics of people. It is essential to identify abnormalities in mitochondrial DNA in patients since these mutations directly affect mitochondrial metabolism and may contribute to various illnesses. The mtDNA found in every human cell is a limited and significant source of harmful mutations and rearrangements. This review provides a concise overview of the unique principles of mitochondrial genetics, including maternal inheritance, mitotic segregation, heteroplasmy, and the threshold effect. It emphasizes the relatively common occurrence of medical conditions associated with mitochondrial DNA (mtDNA) and discusses recent discoveries of pathogenic mutations, with a particular focus on mutations that impact protein-coding genes. Next, we go into more contentious topics, such as the functional or pathological significance of mtDNA haplotypes, the disease-causing potential of homoplasmic mutations, and the mostly unknown mechanisms behind mtDNA mutations.

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Published

2024-06-15

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Mitochondrial DNA and Disease: Areview. ANJS 2024, 27 (2), 81-90. https://doi.org/10.22401/476p9g15.

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