ArticleAlzheimer's & dementia : the journal of the Alzheimer's Association2022
Association of mitochondrial variants and haplogroups identified by whole exome sequencing with Alzheimer's disease.
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Article in Alzheimer's & dementia : the journal of the Alzheimer's Association, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 21 papers.
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21 citing papers in PubMed, 17 citations in OpenAlex.
- Mitochondrial DNA homeostasis: A novel therapeutic target for neurodegenerative diseases.Neural regeneration research · 2026Article
- SIRT5-dependent desuccinylation licenses UBR5-mediated degradation of TAMM41 to regulate mitochondrial metabolism in lung adenocarcinoma.Biology direct · 2026Article
- Mitochondrial haplogroups, but not heteroplasmy, are associated with midlife cognitive function.Alzheimer's & dementia : the journal of the Alzheimer's Association · 2025Article
- Profiling RNA Cargo in Extracellular Vesicles From hiPSC-Derived Neurons of Alzheimer's Disease Patients.Journal of extracellular biology · 2025Article
- Identification of Potential Causal Genes for Neurodegenerative Diseases by Mitochondria-Related Genome-Wide Mendelian Randomization.Molecular neurobiology · 2025Article
- The sigma-1 receptor-TAMM41 axis modulates neuroinflammation and attenuates memory impairment during the latent period of epileptogenesis.Animal models and experimental medicine · 2025Article
- Hypergraph-based analysis of weighted gene co-expression hypernetwork.Frontiers in genetics · 2025Article
- Mitochondrial Protein TAMM41 Modulates Depressive-like Behaviors.Molecular neurobiology · 2024Article
- MST1, a novel therapeutic target for Alzheimer's disease, regulates mitochondrial homeostasis by mediating mitochondrial DNA transcription and the PI3K-Akt-ROS pathway.Journal of translational medicine · 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
- MitoH3: Mitochondrial Haplogroup and Homoplasmic/Heteroplasmic Variant Calling Pipeline for Alzheimer's Disease Sequencing Project.Journal of Alzheimer's disease reports · 2024Article
- Article
- The role of mitochondrial genome abundance in Alzheimer's disease.Alzheimer's & dementia : the journal of the Alzheimer's Association · 2023Article
- AD-Syn-Net: systematic identification of Alzheimer's disease-associated mutation and co-mutation vulnerabilities via deep learning.Briefings in bioinformatics · 2023Article
- Mitochondrial dysfunction in microglia: a novel perspective for pathogenesis of Alzheimer's disease.Journal of neuroinflammation · 2022Review
- In utero particulate matter exposure in association with newborn mitochondrial ND4LEnvironmental health : a global access science source · 2022Article
- 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
- Exploratory analysis of mtDNA haplogroups in two Alzheimer's longitudinal cohorts.Alzheimer's & dementia : the journal of the Alzheimer's Association · 2020Article
- The mitochondrial hypothesis: Dysfunction, bioenergetic defects, and the metabolic link to Alzheimer's disease.International review of neurobiology · 2020Review
- Article
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Authors and funding
13 authors at 2 institutions in 1 country.
Xiaoling ZhangDepartment of Medicine (Biomedical Genetics), Boston University School of Medicine, 72 East Concord Street, Boston, Massachusetts, 02118, USA.
John J FarrellDepartment of Medicine (Biomedical Genetics), Boston University School of Medicine, 72 East Concord Street, Boston, Massachusetts, 02118, USA.
Tong TongDepartment of Medicine (Biomedical Genetics), Boston University School of Medicine, 72 East Concord Street, Boston, Massachusetts, 02118, USA.
Junming HuDepartment of Medicine (Biomedical Genetics), Boston University School of Medicine, 72 East Concord Street, Boston, Massachusetts, 02118, USA.
Congcong ZhuDepartment of Medicine (Biomedical Genetics), Boston University School of Medicine, 72 East Concord Street, Boston, Massachusetts, 02118, USA.
Alzheimer's Disease Sequencing Project
Li-San WangDepartment of Pathology and Laboratory Medicine, University of Pennsylvania Perelman School of Medicine, Philadelphia, Pennsylvania, 19104, USA.
Richard MayeuxDepartment of Neurology, Columbia University, New York, New York, 10032, USA.
Jonathan L HainesDepartment of Population and Quantitative Health Sciences Case Western Reserve University, Cleveland, Ohio, 44106, USA.
Margaret A Pericak-VanceHussman Institute of Human Genetics, University of Miami, Miami, Florida, 33101, USA.
Gerard D SchellenbergDepartment of Pathology and Laboratory Medicine, University of Pennsylvania Perelman School of Medicine, Philadelphia, Pennsylvania, 19104, USA.
Kathryn L LunettaDepartment of Biostatistics, Boston University School of Public Health, 801 Massachusetts Avenue 3rd Floor, Boston, Massachusetts, 02118, USA.
Lindsay A FarrerDepartment of Medicine (Biomedical Genetics), Boston University School of Medicine, 72 East Concord Street, Boston, Massachusetts, 02118, USA.
Boston University · USColumbia University · US
Funding
Large Scale Sequencing and Analysis of GenomesU54HG003067 · NHGRI · MASSACHUSETTS INSTITUTE OF TECHNOLOGY · PI GABRIEL, STACEY, LANDER, ERIC S · 2004 to 2015
$568.6MLarge Scale Genome SequencingU54HG003079 · NHGRI · WASHINGTON UNIVERSITY · PI DUTCHER, SUSAN K · 2004 to 2016
$445.7MThe Human Genome Sequencing CenterU54HG003273 · NHGRI · BAYLOR COLLEGE OF MEDICINE · PI GIBBS, RICHARD A · 2004 to 2015
$341.3MNational Centralized Repository for Alzheimer's Disease and Related Dementias (NCRAD)U24AG021886 · NIA · INDIANA UNIV-PURDUE UNIV AT INDIANAPOLIS · PI TATIANA M. FOROUD · 2002 to 2026
$119.8MNATIONAL ALZHEIMERS COORDINATING CENTER (NACC)U01AG016976 · NIA · UNIVERSITY OF WASHINGTON · PI KUKULL, WALTER ANTHONY · 1999 to 2020
$72.8MARIC Neurocognitive Study (ARIC-NCS) Renewal 2023-2028U01HL096812 · NHLBI · NEW YORK UNIVERSITY SCHOOL OF MEDICINE · PI JOSEF CORESH, THOMAS H MOSLEY · 2010 to 2026
$65.7MAlzheimer's Disease Genetics ConsortiumU01AG032984 · NIA · UNIVERSITY OF PENNSYLVANIA · PI SCHELLENBERG, GERARD DAVID · 2009 to 2024
$60.4MTBDU19AG068753 · NIA · BOSTON UNIVERSITY MEDICAL CAMPUS · PI Lindsay A. Farrer · 2020 to 2026
$42.4MTHE NIA GENETICS OF ALZHEIMER'S DISEASE DATA STORAGE SITEU24AG041689 · NIA · UNIVERSITY OF PENNSYLVANIA · PI LI-SAN WANG · 2012 to 2026
$42.3MWhole Genome Sequencing in Ethnically Diverse Cohorts for the ADSP Follow-Up Study (FUS)U01AG057659 · NIA · UNIVERSITY OF MIAMI SCHOOL OF MEDICINE · PI MAYEUX, RICHARD P, PERICAK-VANCE, MARGARET A. · 2017 to 2021
$34.4MGenome Center for Alzheimer's Disease (GCAD)U54AG052427 · NIA · UNIVERSITY OF PENNSYLVANIA · PI SCHELLENBERG, GERARD DAVID · 2016 to 2025
$32.8MThe National Institute on Aging (NIA) Late Onset of Alzheimer's Disease (LOAD) Family-Based Study (FBS)U24AG056270 · NIA · COLUMBIA UNIVERSITY HEALTH SCIENCES · PI Gary Wayne Beecham, TATIANA M. FOROUD · 2017 to 2026
$31.4MAustrian Science Fund FWF I 904NHGRI NIH HHS U54 HG003067NHGRI NIH HHS U54 HG003079NHGRI NIH HHS U54 HG003273NHLBI NIH HHS HHSN268200800007CNHLBI NIH HHS HHSN268201100005CNHLBI NIH HHS HHSN268201100005GNHLBI NIH HHS HHSN268201100005INHLBI NIH HHS HHSN268201100006CNHLBI NIH HHS HHSN268201100007CNHLBI NIH HHS HHSN268201100007INHLBI NIH HHS HHSN268201100008CNHLBI NIH HHS HHSN268201100008INHLBI NIH HHS HHSN268201100009CNHLBI NIH HHS HHSN268201100009INHLBI NIH HHS HHSN268201100010CNHLBI NIH HHS HHSN268201100011CNHLBI NIH HHS HHSN268201100011INHLBI NIH HHS HHSN268201100012CNHLBI NIH HHS HHSN268201200036CNHLBI NIH HHS HHSN268201500001CNHLBI NIH HHS HHSN268201500001INHLBI NIH HHS HL105756NHLBI NIH HHS N01 HC055222NHLBI NIH HHS N01 HC085079NHLBI NIH HHS N01 HC085080NHLBI NIH HHS N01 HC085081NHLBI NIH HHS N01 HC085082NHLBI NIH HHS N01 HC085083NHLBI NIH HHS N01 HC085086NHLBI NIH HHS R01 HL070825NHLBI NIH HHS R01 HL105756NHLBI NIH HHS RC2 HL102419NHLBI NIH HHS RC2HL102419NHLBI NIH HHS U01 HL080295NHLBI NIH HHS U01 HL096812NHLBI NIH HHS U01 HL096814NHLBI NIH HHS U01 HL096899NHLBI NIH HHS U01 HL096902NHLBI NIH HHS U01 HL096917NHLBI NIH HHS U01 HL130114NIA NIH HHS AG033040NIA NIH HHS AG049607NIA NIH HHS R01 AG015928NIA NIH HHS R01 AG020098NIA NIH HHS R01 AG023629NIA NIH HHS R01 AG033040NIA NIH HHS R01 AG033193NIA NIH HHS R01 AG048927NIA NIH HHS R01-AG048927NIA NIH HHS R01 AG049607NIA NIH HHS R01 AG054076NIA NIH HHS R01 AG064932NIA NIH HHS R01 AG067501NIA NIH HHS R01s AG054076NIA NIH HHS RF1 AG056318NIA NIH HHS RF1 AG057519NIA NIH HHS RF1-AG057519NIA NIH HHS U01 AG016976NIA NIH HHS U01 AG032984NIA NIH HHS U01 AG049505NIA NIH HHS U01 AG049506NIA NIH HHS U01 AG049507NIA NIH HHS U01 AG049508NIA NIH HHS U01 AG052409NIA NIH HHS U01 AG052410NIA NIH HHS U01 AG052411NIA NIH HHS U01 AG057659NIA NIH HHS U01 AG058654NIA NIH HHS U01-AG058654NIA NIH HHS U01 AG062602NIA NIH HHS U01 AG072577NIA NIH HHS U19 AG068753NIA NIH HHS U19-AG068753NIA NIH HHS U24 AG021886NIA NIH HHS U24 AG041689NIA NIH HHS U24 AG056270NIA NIH HHS U54-AG052247NIA NIH HHS U54 AG052427NIA NIH HHS UF1 AG047133NINDS NIH HHS HHSN268201500001ININDS NIH HHS N01-HC-25195NINDS NIH HHS R01AG023629NINDS NIH HHS R01AG15928NINDS NIH HHS R01AG20098NINDS NIH HHS R01 NS017950
Abstract
introductionFindings regarding the association between mitochondrial DNA (mtDNA) variants and Alzheimer's disease (AD) are inconsistent.
methodsWe developed a pipeline for accurate assembly and variant calling in mitochondrial genomes embedded within whole exome sequences (WES) from 10,831 participants from the Alzheimer's Disease Sequencing Project (ADSP). Association of AD risk was evaluated with each mtDNA variant and variants located in 1158 nuclear genes related to mitochondrial function using the SCORE test. Gene-based tests were performed using SKAT-O.
resultsAnalysis of 4220 mtDNA variants revealed study-wide significant association of AD with a rare MT-ND4L variant (rs28709356 C>T; minor allele frequency = 0.002; P = 7.3 × 10 DISCUSSION: Significant findings in MT-ND4L and TAMM41 provide evidence for a role of mitochondria in AD.
Indexed as
Alzheimer DiseaseMitochondrial ProteinsNADH DehydrogenaseDNA, MitochondrialExome SequencingGene FrequencyHumansMitochondriaDNA, MitochondrialMitochondrial ProteinsNADH DehydrogenaseNADH dehydrogenase subunit 4Alzheimer's diseasegenetic associationmitochondrial haplogroupmitochondrial variant callingwhole exome sequencing
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