title: Mitochondrial DNA aberrations and pathophysiological implications in hematopoietic diseases, chronic inflammatory diseases, and cancers.
abstract: Mitochondria are important intracellular organelles that produce energy for cellular development, differentiation, and growth. Mitochondrial DNA (mtDNA) presents a 10- to 20-fold higher susceptibility to genetic mutations owing to the lack of introns and histone proteins. The mtDNA repair system is relatively inefficient, rendering it vulnerable to reactive oxygen species (ROS) produced during ATP synthesis within the mitochondria, which can then target the mtDNA. Under conditions of chronic inflammation and excess stress, increased ROS production can overwhelm the antioxidant system, resulting in mtDNA damage. This paper reviews recent literature describing the pathophysiological implications of oxidative stress, mitochondrial dysfunction, and mitochondrial genome aberrations in aging hematopoietic stem cells, bone marrow failure syndromes, hematological malignancies, solid organ cancers, chronic inflammatory diseases, and other diseases caused by exposure to environmental hazards.
authors.affiliation: Department of Laboratory Medicine, Chonnam National University Medical School and Chonnam National University Hwasun Hospital, Hwasun, Korea. ; Brain Korea 21 Project, Center for Biomedical Human Resources, Chonnam National University, Gwangju, Korea.
authors.forename: Hye-Ran
authors.initials: HR
authors.lastname: Kim
authors.affiliation: Department of Integrative Biology, University of California, Berkeley, CA, USA.
authors.forename: Stephanie Jane
authors.initials: SJ
authors.lastname: Won
authors.affiliation: Department of Cell Therapy, Fraunhofer Institute for Cell Therapy and Immunology, Leipzig, Germany.
authors.forename: Claire
authors.initials: C
authors.lastname: Fabian
authors.affiliation: Department of Laboratory Medicine, Chonnam National University Medical School and Chonnam National University Hwasun Hospital, Hwasun, Korea. ; Brain Korea 21 Project, Center for Biomedical Human Resources, Chonnam National University, Gwangju, Korea.
authors.forename: Min-Gu
authors.initials: MG
authors.lastname: Kang
authors.affiliation: Department of Cell Therapy, Fraunhofer Institute for Cell Therapy and Immunology, Leipzig, Germany.
authors.forename: Michael
authors.initials: M
authors.lastname: Szardenings
authors.affiliation: Department of Laboratory Medicine, Chonnam National University Medical School and Chonnam National University Hwasun Hospital, Hwasun, Korea. ; Brain Korea 21 Project, Center for Biomedical Human Resources, Chonnam National University, Gwangju, Korea. ; Environment Health Center for Childhood Leukemia and Cancer, Chonnam National University Hwasun Hospital, Hwasun, Korea.
authors.forename: Myung-Geun
authors.initials: MG
authors.lastname: Shin
mesh_terms: D004272:DNA, Mitochondrial / Q000235:genetics* / Q000378:metabolism; D006402:Hematologic Diseases / Q000235:genetics / Q000473:pathology*; D006801:Humans; D007249:Inflammation; D008928:Mitochondria / Q000235:genetics; D009154:Mutation; D009369:Neoplasms / Q000235:genetics / Q000473:pathology*; D018384:Oxidative Stress; D017382:Reactive Oxygen Species / Q000378:metabolism
chemical_list: D004272:DNA, Mitochondrial; D017382:Reactive Oxygen Species
keywords: Aberrations; Diseases; mtDNA