Possible association of mitochondrial transcription factor A (TFAM) genotype with sporadic Alzheimer disease
Abstract
Mitochondrial transcription factor A (TFAM) is essential for transcription and replication of mammalian mitochondrial DNA (mtDNA). Disturbance of maintenance of mtDNA integrity or mitochondrial function may underlay neurodegenerative disorders such as Alzheimer disease (AD). TFAM, the gene encoding TFAM maps to chromosome 10q21.1, a region that showed linkage to late-onset AD in several study samples. We screened TFAM for single nucleotide polymorphisms (SNPs) and genotyped the G>C SNP rs1937, coding for S12T in mitochondrial signal sequence of TFAM, and the A>G SNP rs2306604 (IVS4+113A>G) in 372 AD patients and 295 nondemented control subjects. There was an association of genotype rs1937G/G with AD in females and an association of a TFAM haplotype with AD both in the whole sample and in females. The findings suggest that a TFAM haplotype containing rs1937 G (for S12) may be a moderate risk factor for AD.
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Polymorphisms in TFAM associate with AD risk in some studies.
“Polymorphisms in other nuclear genes, for example transcription factor A of the mitochondria (TFAM), associate with AD risk in some studies [168-170].”
From The Alzheimer’s disease mitochondrial cascade hypothesis: progress and perspectives (2014) · cites this paper as [170]
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- Authors
- Günther, C., Hadeln, K. V., Müller-Thomsen, T., Alberici, A., Binetti, G., Hock, C., Nitsch, R. M., Stoppe, G., Reiss, J., Gal, A., & Finckh, U.
- Affiliations
- University Medical Center Hamburg-Eppendorf (DE)
- Centro San Giovanni di Dio Fatebenefratelli (IT)
- University of Zurich (CH)
- University Hospital of Basel (CH)
- University of Göttingen (DE)
- Corresponding author
- Finckh, Ulrich
- Venue
- Neuroscience Letters
- Publisher
- Elsevier BV
- Published
- 2004-10
- Volume
- 369
- Issue
- 3
- Pages
- 219-223
- ISSN
- 0304-3940 (ISSN-L)
- OpenAlex
- W2047575740
- Cited by
- 53
- References
- 24
- Citations by year
- 2025: 5 · 2023: 1 · 2022: 2 · 2021: 3 · 2020: 1 · 2019: 1 · 2018: 2 · 2017: 3 · 2016: 7 · 2014: 2 · 2013: 4 · 2012: 1
- FWCI
- 1.03
- Type
- journal article
- Language
- en
- Open access
- closed
- Locations
- Neuroscience Letters (publishedVersion)
- PubMed (publishedVersion)
- GRO (submittedVersion)
- Zurich Open Repository and Archive (University of Zurich) (submittedVersion)
- Topics
- Health Sciences › Medicine › Physiology › Alzheimer's disease research and treatments
- Health Sciences › Medicine › Psychiatry and Mental health › Dementia and Cognitive Impairment Research
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Molecular Biology › Mitochondrial Function and Pathology
- Keywords
- TFAM, Alzheimer's disease, sporadic Alzheimer's disease, single nucleotide polymorphisms, haplotype association, genetic risk factors, mitochondrial DNA, sex differences
- MeSH terms
- Alzheimer Disease, Apolipoproteins E, DNA-Binding Proteins, Exons, Female, Gene Frequency, Genotype, Humans, Male, Nuclear Proteins, Sex Factors, Transcription Factors, Linkage Disequilibrium, Logistic Models, Polymerase Chain Reaction, Sequence Analysis, DNA, Genetic Predisposition to Disease, Polymorphism, Single Nucleotide, Mitochondrial Proteins
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