ArticleChinese medical journal2016
A Mitochondrial DNA A8701G Mutation Associated with Maternally Inherited Hypertension and Dilated Cardiomyopathy in a Chinese Pedigree of a Consanguineous Marriage.
Article in Chinese medical journal, 2016. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 12 papers.
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Who cites it
12 citing papers in PubMed, 19 citations in OpenAlex.
- Mitochondrial cardiovascular diseases: molecular mechanisms, multi-omics exploration and therapeutic strategies.Journal of advanced research · 2026Review
- Mitochondrial related variants associated with cardiovascular traits.Frontiers in physiology · 2024Article
- The Role of Mitochondrial DNA Mutations in Cardiovascular Diseases.International journal of molecular sciences · 2022Review
- Molecular Epidemiology of Mitochondrial Cardiomyopathy: A Search Among Mitochondrial and Nuclear Genes.International journal of molecular sciences · 2021Review
- Next-generation sequencing of the whole mitochondrial genome identifies novel and common variants in patients with psoriasis, type 2 diabetes mellitus and psoriasis with comorbid type 2 diabetes mellitus.Biomedical reports · 2021Article
- Impact of an MT-RNR1 Gene Polymorphism on Hepatocellular Carcinoma Progression and Clinical Characteristics.International journal of molecular sciences · 2021Article
- Mitochondrial tRNA Mutation and Regulation of the Adiponectin Pathway in Maternally Inherited Hypertension in Chinese Han.Frontiers in cell and developmental biology · 2020Article
- Close association between abnormal expressed enzymes of energy metabolism and diarrhea-predominant irritable bowel syndrome.Chinese medical journal · 2019Article
- The Mitochondrial tRNABalkan journal of medical genetics : BJMG · 2018Article
- Integrating Genes Affecting Coronary Artery Disease in Functional Networks by Multi-OMICs Approach.Frontiers in cardiovascular medicine · 2018Review
- A Mitochondrial DNA A8701G Mutation Partly Associated with Maternally Inherited Hypertension and Dilated Cardiomyopathy in a Chinese Pedigree.Chinese medical journal · 2016Article
- Pathogenicity of the Homoplasmic m.8701A>G Variant Requires Confirmation.Chinese medical journal · 2016Article
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3 authors at 2 institutions in 2 countries.
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Abstract
backgroundCardiovascular diseases, including dilated cardiomyopathy (DCM) and hypertension, are the leading cause of death worldwide. The role of mitochondrial DNA (mtDNA) in the pathogenesis of these diseases has not been completely clarified. In this study, we evaluate whether A8701G mutation is associated with maternally inherited hypertension and DCM in a Chinese pedigree of a consanguineous marriage.
methodsFourteen subjects in a three-generation Han Chinese family with hypertension and DCM, in which consanguineous marriage was present in the parental generation, were interviewed. We divided all the family members into case (7 maternal members) and control group (7 nonmaternal members) for comparison. Clinical evaluations and sequence analysis of mtDNA were obtained from all participants. Frequency differences between maternal and nonmaternal members were tested to locate the disease-associated mutations.
resultsThe majority of the family members presented with a maternal inheritance of hypertension and DCM. Sequence analysis of mtDNA in this pedigree identified eight mtDNA mutations. Among the mutations identified, there was only one significant mutation: A8701G (P = 0.005), which is a homoplasmic mitochondrial missense mutation in all the matrilineal relatives. There was no clear evidence for any synergistic effects between A8701G and other mutations.
conclusionsA8701G mutation may act as an inherited risk factor for the matrilineal transmission of hypertension and DCM in conjunction with genetic disorders caused by consanguineous marriage.
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