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

Cai, Biyang; Zhang, Zhizhong; Liu, Keting; Fan, Wenping; Zhang, Yumeng; Xie, Xia; Dai, Minhui; Cao, Liping; Bai, Wen; Du, Juan; Dai, Qiliang; Zhou, Shuyu; Zhang, Hao; Zhu, Wusheng; Ma, Minmin; Liu, Wenhua; Liu, Xinfeng; Xu, Gelin

doi:10.1038/srep09864

Cited by 10 publications

(6 citation statements)

References 42 publications

(46 reference statements)

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“…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 ]. On the contrary, haplogroup pre-HV/HV and U were found to be potential genetic risk factors for stroke in the European population (OR = 3.14 and OR = 2.87, respectively) [ 6 ].…”

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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“…One of the first IS-related genetic syndromes to be characterized is now known to be caused by mutations in at least 30 mitochondrial genes (Sproule et al, 2013). Further investigation into ischemic stroke and mitochondrial variation has led to several correlations between mtDNA haplogroups and IS (Cai et al, 2015), as well as common OXPHOS gene variations and IS (Anderson et al, 2013). These associations are still putative and require further investigation.…”

Section: The Genetics/genomics Of Ischemic Strokementioning

confidence: 92%

Ischemic Stroke: From Next Generation Sequencing and GWAS to Community Genomics?

Black

Wang

2015

OMICS: A Journal of Integrative Biology

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Stroke is a major cause of mortality and morbidity in both the developed and developing world. Next generation sequencing (NGS) and multi-omics integrative biology research offer new opportunities in the way we research and understand stroke. These biotechnologies also signal a shift from genetics to genomics of stroke, which is highlighted in this review. Stroke is a focal neurological deficit resulting from disruption of the cerebral blood supply. There are two main types of common stroke, ischemic stroke (IS), which comprises 80% of cases, and hemorrhagic stroke (HS) that accounts for about 20% of cases. IS is a complex multi-factorial disease with multiple environmental and genomic determinants. We discuss here IS from genomics and bioinformatics perspectives, including the highlights of the genome wide association studies (GWAS), NGS progress to date, and exome studies. While both \u27common variant, common disease\u27 and \u27rare variant, common disease\u27 approaches need to be assessed in tandem, future studies into IS omics should also consider pedigree and/or community based sampling to take account of the complex diversity of IS genetics. We conclude by presenting an example of such community genomics research from China in an extended pedigree sample, and the ways in which the intersection of genomics and global society can usefully inform our understanding of IS pathophysiology and potential preventive medicine interventions in the future

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“…As a result, perturbations of the mitochondrial genome or nuclear genes encoding mitochondrial proteins impact poststroke recovery. Specifically, haplogroups N9 [ 43 ] and R0 [ 66 ] are protective for ND (14-day and 1-month ΔNIHSS, respectively), but are otherwise unstudied in the context of stroke. The association with N9 was identified in an pure IS cohort [ 43 ], while Cramer et al discovered the R0 association in a population composed of 77% ischemic stroke patients [ 66 ].…”

Section: Mitochondrial Variationmentioning

confidence: 99%

Genetics of ischemic stroke functional outcome

Carnwath,

Demel,

Prestigiacomo

2024

J Neurol

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Ischemic stroke, which accounts for 87% of cerebrovascular accidents, is responsible for massive global burden both in terms of economic cost and personal hardship. Many stroke survivors face long-term disability—a phenotype associated with an increasing number of genetic variants. While clinical variables such as stroke severity greatly impact recovery, genetic polymorphisms linked to functional outcome may offer physicians a unique opportunity to deliver personalized care based on their patient’s genetic makeup, leading to improved outcomes. A comprehensive catalogue of the variants at play is required for such an approach. In this review, we compile and describe the polymorphisms associated with outcome scores such as modified Rankin Scale and Barthel Index. Our search identified 74 known genetic polymorphisms spread across 48 features associated with various poststroke disability metrics. The known variants span diverse biological systems and are related to inflammation, vascular homeostasis, growth factors, metabolism, the p53 regulatory pathway, and mitochondrial variation. Understanding how these variants influence functional outcome may be helpful in maximizing poststroke recovery.

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

Cited by 10 publications

References 42 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

Ischemic Stroke: From Next Generation Sequencing and GWAS to Community Genomics?

Genetics of ischemic stroke functional outcome

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