ArticleHuman molecular genetics2019
Somatic mutation that affects transcription factor binding upstream of CD55 in the temporal cortex of a late-onset Alzheimer disease patient.
Article in Human molecular genetics, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 14 papers.
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Who cites it
14 citing papers in PubMed, 24 citations in OpenAlex.
- Somatic mosaicism in the brain: linking development, ageing and neurodegeneration.Nature reviews. Neurology · 2026Review
- Alzheimer's disease: genetic background in the era of next-generation sequencing technologies.Brain communications · 2026Review
- Brain somatic mutations in Alzheimer's disease: linking genetic mosaicism to neurodegeneration.Molecular neurodegeneration · 2025Review
- Whole-blood transcriptomic analysis reveals preoperative complement inhibitor deficiencies linked to postoperative delirium.Molecular psychiatry · 2025Article
- Association of Decay Accelerating Factor (CD55) Positive Extracellular Vesicles with Advanced Age and Blood Glucose Levels in Elderly Individuals.Clinical interventions in aging · 2025Article
- Deciphering proteins in Alzheimer's disease: A new Mendelian randomization method integrated with AlphaFold3 for 3D structure prediction.Cell genomics · 2024Article
- Exercise training upregulates CD55 to suppress complement-mediated synaptic phagocytosis in Parkinson's disease.Journal of neuroinflammation · 2024Article
- Senescence-related genes and proteins in the development of Alzheimer's disease: evidence from transcriptomic and Mendelian randomization analysis.Frontiers in aging neuroscience · 2024Article
- Somatic mosaicism in the diseased brain.Molecular cytogenetics · 2022Review
- Identification and immune characteristics of molecular subtypes related to protein glycosylation in Alzheimer's disease.Frontiers in aging neuroscience · 2022Article
- Genomics of Alzheimer's disease implicates the innate and adaptive immune systems.Cellular and molecular life sciences : CMLS · 2021Review
- Brain Somatic Mutation in Aging and Alzheimer's Disease.Annual review of genomics and human genetics · 2021Review
- Review
- Synaptic Pruning in Alzheimer's Disease: Role of the Complement System.Global journal of medical research · 2020Article
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Authors and funding
6 authors at 2 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Alzheimer's disease (AD) is the most common neurodegenerative disease worldwide. Familial cases suggest genetic components; however, monogenetic causes are few, and the vast majority of incidences have unknown cause. Sequencing efforts have focused on germline mutations, but improved technology has opened up for studies on somatic mutations in affected brain tissue samples. Here we use ultra-deep sequencing on brain and blood from early-onset AD (EOAD) and late-onset AD (LOAD) patients and non-AD individuals (n = 16). In total, 2.86 Mb of genomic regions, previously associated with AD, were targeted included 28 genes and upstream and downstream regulatory regions. Tailored downstream bioinformatics filtering identified 11 somatic single nucleotide variants in the temporal cortex in AD patients and none in the controls. One variant was validated to be present at 0.4% allele frequency in temporal cortex of a LOAD patient. This variant was predicted to affect transcription factor binding sites upstream of the CD55 gene, contributing to AD pathogenesis by affecting the complement system. Our results suggest that future studies targeting larger portions of the genome for somatic mutation analysis are important to obtain an increased understanding for the molecular basis of both EOAD and LOAD.
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