Mitochondrial DNA haplogroup D4b is a protective factor for ischemic stroke in Chinese Han population

Yang, Dongzhi; Wang, Qing; Shi, Yunshu; Fan, Yujia; Zheng, Hou-Feng; Song, Guoying; Feng, Qingchuan; Zheng, Hong; He, Ying

doi:10.1007/s00438-014-0884-7

Cited by 9 publications

(4 citation statements)

References 35 publications

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“…The relationship between mtDNA haplogroup and ischemic stroke has been studied with inconclusive results. Mitochondrial DNA haplogroup K and H1 have been identified as protective factors in the European population (OR = 0.54 and OR = 0.61, respectively) [ 6 , 7 ], while mtDNA haplogroup D4b was found to be protective in Han Chinese patients (OR = 0.028) [ 8 ]. Recently, mtDNA haplogroup N9 was reported as an independent protective factor against neurological worsening in acute ischemic stroke patients [ 9 ].…”

Section: Introductionmentioning

confidence: 99%

Ischemic Stroke Risk Associated with Mitochondrial Haplogroup F in the Asian Population

Tsai

Kuo

Lin

et al. 2020

Cells

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Mitochondrial dysfunction is involved in the pathogenesis of atherosclerosis, the primary risk factor for ischemic stroke. This study aims to explore the role of mitochondrial genomic variations in ischemic stroke, and to uncover the nuclear genes involved in this relationship. Eight hundred and thirty Taiwanese patients with a history of ischemic stroke and 966 normal controls were genotyped for their mitochondrial haplogroup (Mthapg). Cytoplasmic hybrid cells (cybrids) harboring different Mthapgs were used to observe functional differences under hypoxia-ischemia. RNA sequencing (RNASeq) was conducted to identify the particularly elevated mRNA. The patient study identified an association between Mthapg F1 and risk of ischemic stroke (OR 1.72:1.27–2.34, p = 0.001). The cellular study further demonstrated an impeded induction of hypoxic inducible factor 1α in the Mthapg F1 cybrid after hypoxia-ischemia. Additionally, the study demonstrated that Mthapg F cybrids were associated with an altered mitochondrial function, including decreased oxygen consumption, higher mitochondrial ROS production, and lower mitochondrial membrane potential. Mthapg F cybrids were also noted to be prone to inflammation, with increased expression of several inflammatory cytokines and elevated matrix metalloproteinase 9. The RNASeq identified significantly elevated expressions of angiopoietin-like 4 in Mthapg F1 cybrids after hypoxia-ischemia. Our study demonstrates an association between Mthapg F and susceptibility to ischemic stroke.

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Section: Introductionmentioning

confidence: 99%

Ischemic Stroke Risk Associated with Mitochondrial Haplogroup F in the Asian Population

Tsai

Kuo

Lin

et al. 2020

Cells

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“…Similarly, these Caucasian haplogroups present rarely in Asian population, and therefore their effects could not be evaluated in this study. Mitochondrial haplogroup D4b was also reported as a protective factor against ischemic stroke in Han Chinese population 33 . But the frequency of haplogroup D4b is very low in patients enrolled in this study; its association was not tested.…”

Section: Discussionmentioning

confidence: 96%

Mitochondrial DNA haplogroups and short-term neurological outcomes of ischemic stroke

Cai

Zhang

Liu

et al. 2015

Sci Rep

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Stroke is one of the leading causes of death and long-term disability worldwide. Mitochondrial DNA (mtDNA) is a potential contributor for the sex differences of ischemic stroke heritability. Although mtDNA haplogroups were associated with stroke onset, their impacts on stroke outcomes remain unclear. This study aimed to evaluate the impacts of mtDNA haplogroups on short-term outcomes of neurological functions in patients with ischemic stroke. A total of 303 patients were included, and their clinical data and mtDNA sequences were analyzed. Based on the changes between baseline and 14-day follow-up stroke severity, our results showed that haplogroup N9 was an independent protective factor against neurological worsening in acute ischemic stroke patients. These findings supported that mtDNA variants play a role in post-stroke neurological recovery, thus providing evidences for future pharmacological intervention in mitochondrial function.

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“…Stroke is a complex multifactorial disorder caused by both genetics and environment in the Chinese population (Della-Morte et al, 2012). One study shows that mtDNA C5178A belongs to haplogroup D4b and is a protective factor for IS in the Chinese Han population ( n = 200) (Yang et al, 2014). Other studies reported that m.5178C, but not m.5178A, is a risk factor for several diseases including myocardial infarction ( n = 517), cerebrovascular diseases ( n = 127), and diabetes ( n = 270) (Wang et al, 2001; Ohkubo et al, 2002; Takagi et al, 2004).…”

Section: Mitochondrial Haplogroups Associated With Disease In East Asiamentioning

confidence: 99%

Contribution of Mitochondrial DNA Variation to Chronic Disease in East Asian Populations

Sun

Wei

Zheng

et al. 2019

Front. Mol. Biosci.

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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.

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Mitochondrial DNA haplogroup D4b is a protective factor for ischemic stroke in Chinese Han population

Cited by 9 publications

References 35 publications

Ischemic Stroke Risk Associated with Mitochondrial Haplogroup F in the Asian Population

Ischemic Stroke Risk Associated with Mitochondrial Haplogroup F in the Asian Population

Mitochondrial DNA haplogroups and short-term neurological outcomes of ischemic stroke

Contribution of Mitochondrial DNA Variation to Chronic Disease in East Asian Populations

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