Abstract
Mitochondria are the main producers of energy in eukaryotic cells. Mitochondrial dysfunction is associated with specific mitochondrial DNA (mtDNA) variations (haplogroups), and these variations can contribute to human disease. East Asian populations show enrichment of many mitochondrial haplogroups, including A, B, D, G, M7, M8, M9, N9, R9, and exhibit half of the known haplogroups of worldwide. In this review, we summarize the current research in the field of mtDNA variation and associated disease in East Asian populations and discuss the physiological and pathological relevance of mitochondrial biology. mtDNA haplogroups are associated with various metabolic disorders ascribed to altered oxidative phosphorylation. The same mitochondrial haplogroup can show either a negative or positive association with different diseases. Mitochondrial dynamics, mitophagy, and mitochondrial oxidative stress, ultimately influence susceptibility to various diseases. In addition, mitochondrial retrograde signaling pathways may have profound effects on nuclear-mitochondrial interactions, affecting cellular morphology, and function. Other complex networks including proteostasis, mitochondrial unfolded protein response and reactive oxygen species signaling may also play pivotal roles in metabolic performance.
Highlights
Mitochondria are cytoplasmic organelles of eukaryotic cells that provide more than 90% of the cell’s adenosine triphosphate (ATP) through oxidative phosphorylation (OXPHOS) and the mitochondrial electron transport chain (ETC)
This study revealed that haplogroup N contributed to overall prostate cancer, the mitochondrial DNA (mtDNA)-encoded OXPHOS genes were not associated with prostate cancer risk in this cohort (Giorgi et al, 2016)
The studies described in this review shed light on the pathogenesis of diseases associated with mitochondrial dysfunction
Summary
Mitochondria are cytoplasmic organelles of eukaryotic cells that provide more than 90% of the cell’s adenosine triphosphate (ATP) through oxidative phosphorylation (OXPHOS) and the mitochondrial electron transport chain (ETC). We review the current research on mtDNA variations and haplogroups in various metabolic diseases and discuss the physiological and pathological relevance of mitochondrial biology in East Asia. MITOCHONDRIAL HAPLOGROUPS ASSOCIATED WITH DISEASE IN EAST ASIA
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