ArticleJournal of Alzheimer's disease : JAD2012
Mitochondrial DNA sequence variation associated with dementia and cognitive function in the elderly.
Article in Journal of Alzheimer's disease : JAD, 2012. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 30 papers.
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
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Who cites it
30 citing papers in PubMed, 46 citations in OpenAlex.
- Polymorphisms in the Mitochondrial Genome Are Associated With Bullous Pemphigoid in Germans.Frontiers in immunology · 2019Trial
- Exploring the Mechanisms and Therapeutic Approaches of Mitochondrial Dysfunction in Alzheimer's Disease: An Educational Literature Review.Molecular neurobiology · 2025Review
- The inverse association between cancer history and incident cognitive impairment: Addressing attrition bias.Alzheimer's & dementia : the journal of the Alzheimer's Association · 2024Article
- Joint and Individual Mitochondrial DNA Variation and Cognitive Outcomes in Black and White Older Adults.The journals of gerontology. Series A, Biological sciences and medical sciences · 2024Article
- Mining Alzheimer's disease clinical data: reducing effects of natural aging for predicting progression and identifying subtypes.Frontiers in neuroscience · 2024Article
- Targeted Treatment Strategies for Mitochondria Dysfunction: Correlation with Neurological Disorders.Current drug targets · 2024Review
- The Health, Aging, and Body Composition (Health ABC) Study-Ground-Breaking Science for 25 Years and Counting.The journals of gerontology. Series A, Biological sciences and medical sciences · 2023Review
- Observational studies in Alzheimer disease: bridging preclinical studies and clinical trials.Nature reviews. Neurology · 2022Review
- Association of mitochondrial variants and haplogroups identified by whole exome sequencing with Alzheimer's disease.Alzheimer's & dementia : the journal of the Alzheimer's Association · 2022Article
- Contribution of mitochondrial gene variants in diabetes and diabetic kidney disease.Frontiers in endocrinology · 2022Article
- A Mitochondrial DNA Haplogroup Defines Patterns of Five-Year Cognitive Change.Journal of Alzheimer's disease : JAD · 2022Article
- The heterogeneity among subgroups of haplogroup J influencing Alzheimer's disease risk.Journal of advanced research · 2021Article
- Mitochondrial DNA and MitomiR Variations in Pancreatic Cancer: Potential Diagnostic and Prognostic Biomarkers.International journal of molecular sciences · 2021Review
- Beyond Antioxidant Effects: Nature-Based Templates Unveil New Strategies for Neurodegenerative Diseases.Antioxidants (Basel, Switzerland) · 2021Review
- Exploratory analysis of mtDNA haplogroups in two Alzheimer's longitudinal cohorts.Alzheimer's & dementia : the journal of the Alzheimer's Association · 2020Article
- The spatio-temporal features of chicken mitochondrial ND2 gene heteroplasmy and the effects of nutrition factors on this gene.Scientific reports · 2020Article
- Association among plasma lactate, systemic inflammation, and mild cognitive impairment: a community-based study.Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology · 2019Article
- Review
- Neurotransmitter Pathway Genes in Cognitive Decline During Aging: Evidence for GNG4 and KCNQ2 Genes.American journal of Alzheimer's disease and other dementias · 2018Article
- Vitamin B12 Levels in Methamphetamine Addicts.Frontiers in behavioral neuroscience · 2018Article
Corrections and comments
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Authors and funding
13 authors at 7 institutions in 1 country.
Funding
Abstract
Mitochondrial dysfunction is a prominent hallmark of Alzheimer's disease (AD). Mitochondrial DNA (mtDNA) damage may be a major cause of abnormal reactive oxidative species production in AD or increased neuronal susceptibility to oxidative injury during aging. The purpose of this study was to assess the influence of mtDNA sequence variation on clinically significant cognitive impairment and dementia risk in the population-based Health, Aging, and Body Composition (Health ABC) Study. We first investigated the role of common mtDNA haplogroups and individual variants on dementia risk and 8-year change on the Modified Mini-Mental State Examination (3MS) and Digit Symbol Substitution Test (DSST) among 1,631 participants of European genetic ancestry. Participants were free of dementia at baseline and incidence was determined in 273 cases from hospital and medication records over 10-12 follow-up years. Participants from haplogroup T had a statistically significant increased risk of developing dementia (OR = 1.86, 95% CI = 1.23, 2.82, p = 0.0008) and haplogroup J participants experienced a statistically significant 8-year decline in 3MS (β = -0.14, 95% CI = -0.27, -0.03, p = 0.0006), both compared with common haplogroup H. The m.15244A>G, p.G166G, CytB variant was associated with a significant decline in DSST score (β = -0.58, 95% CI -0.89, -0.28, p = 0.00019) and the m.14178T>C, p.I166V, ND6 variant was associated with a significant decline in 3MS score (β = -0.87, 95% CI -1.31, -3.86, p = 0.00012). Finally, we sequenced the complete ~16.5 kb mtDNA from 135 Health ABC participants and identified several highly conserved and potentially functional nonsynonymous variants unique to 22 dementia cases and aggregate sequence variation across the hypervariable 2-3 regions that influences 3MS and DSST scores.
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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.