ArticlePloS one2012
Mitochondrial genomic analysis of late onset Alzheimer's disease reveals protective haplogroups H6A1A/H6A1B: the Cache County Study on Memory in Aging.
Article in PloS one, 2012. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 31 papers.
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Who cites it
31 citing papers in PubMed, 51 citations in OpenAlex.
- Retrospective analysis of phytoSERM for management of menopause-associated vasomotor symptoms and cognitive decline: a pilot study on pharmacogenomic effects of mitochondrial haplogroup and APOE genotype on therapeutic efficacy.Menopause (New York, N.Y.) · 2020Trial
- Mitochondrial ecosystem restoration in Alzheimer's disease: from mechanisms to multi-target therapeutic strategies.Frontiers in cell and developmental biology · 2026Review
- Engineering RsDddA as mitochondrial base editor with wide target compatibility and enhanced activity.Molecular therapy. Nucleic acids · 2023Article
- Mitochondrial DNA and Alzheimer's disease: a first case-control study of the Tunisian population.Molecular biology reports · 2022Article
- The Role of Mitochondrial Genes in Neurodegenerative Disorders.Current neuropharmacology · 2022Review
- Mitochondrial DNA haplogroup analysis in Saudi Arab patients with multiple sclerosis.PloS one · 2022Article
- Mutational Analysis and mtDNA Haplogroup Characterization in Three Serbian Cases of Mitochondrial Encephalomyopathies and Literature Review.Diagnostics (Basel, Switzerland) · 2021Article
- Associations of mitochondrial genomic variation with corticobasal degeneration, progressive supranuclear palsy, and neuropathological tau measures.Acta neuropathologica communications · 2020Article
- The Role of Mitochondria in Neurodegenerative Diseases: the Lesson from Alzheimer's Disease and Parkinson's Disease.Molecular neurobiology · 2020Review
- Mitochondrial DNA Haplogroups and Delirium During Sepsis.Critical care medicine · 2019Article
- Nuclear-Mitochondrial interactions influence susceptibility to HIV-associated neurocognitive impairment.Mitochondrion · 2019Observational
- Article
- The degree of mitochondrial DNA methylation in tumor models of glioblastoma and osteosarcoma.Clinical epigenetics · 2018Article
- Article
- Assembly of 809 whole mitochondrial genomes with clinical, imaging, and fluid biomarker phenotyping.Alzheimer's & dementia : the journal of the Alzheimer's Association · 2018Article
- Mitochondria and Alzheimer's Disease: the Role of Mitochondrial Genetic Variation.Current genetic medicine reports · 2018Review
- Review
- Blood-Based Bioenergetic Profiling Reflects Differences in Brain Bioenergetics and Metabolism.Oxidative medicine and cellular longevity · 2017Article
- Mitochondrial DNA haplotypes induce differential patterns of DNA methylation that result in differential chromosomal gene expression patterns.Cell death discovery · 2017Article
- Increased expression of ApoE and protection from amyloid-beta toxicity in transmitochondrial cybrids with haplogroup K mtDNA.Neurobiology of disease · 2016Article
Corrections and comments
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Authors and funding
10 authors at 6 institutions in 1 country.
Funding
Abstract
backgroundAlzheimer's disease (AD) is the most common cause of dementia and AD risk clusters within families. Part of the familial aggregation of AD is accounted for by excess maternal vs. paternal inheritance, a pattern consistent with mitochondrial inheritance. The role of specific mitochondrial DNA (mtDNA) variants and haplogroups in AD risk is uncertain. METHODOLOGY/PRINCIPAL
findingsWe determined the complete mitochondrial genome sequence of 1007 participants in the Cache County Study on Memory in Aging, a population-based prospective cohort study of dementia in northern Utah. AD diagnoses were made with a multi-stage protocol that included clinical examination and review by a panel of clinical experts. We used TreeScanning, a statistically robust approach based on haplotype networks, to analyze the mtDNA sequence data. Participants with major mitochondrial haplotypes H6A1A and H6A1B showed a reduced risk of AD (p=0.017, corrected for multiple comparisons). The protective haplotypes were defined by three variants: m.3915G>A, m.4727A>G, and m.9380G>A. These three variants characterize two different major haplogroups. Together m.4727A>G and m.9380G>A define H6A1, and it has been suggested m.3915G>A defines H6A. Additional variants differentiate H6A1A and H6A1B; however, none of these variants had a significant relationship with AD case-control status. CONCLUSIONS/SIGNIFICANCE: Our findings provide evidence of a reduced risk of AD for individuals with mtDNA haplotypes H6A1A and H6A1B. These findings are the results of the largest study to date with complete mtDNA genome sequence data, yet the functional significance of the associated haplotypes remains unknown and replication in others studies is necessary.
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