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TOM40 over-expression blocked Ab-elicited decreases in the mitochondrial membrane potential, cellular ATP levels, and cellular viability in the control cells. These data suggest elevated expression of TOM40 may be protective of mitochondrial function.
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PPARgamma knockdown resulted in increased levels of TOMM40, APOE and APOC1 -mRNAs, showing the strongest impact on APOE transcript levels.
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Results from this exploratory analysis suggest that regulatory element methylation levels within the larger TOMM40-APOE-APOC2 gene region correlate with AD-related biomarkers and TOMM40 or APOE gene expression in AD.
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This study demonstrated that the association of TOMM40 '523-L with cognitive decline is primarily mediated by common neuropathologies. By contrast, the association of TOMM40 '523-S/S is relatively independent of these pathologies.
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This study found in middle-aged and aged cohorts that FH altered TOMM40 '523 poly-T genotype associations on memory, and additionally in aged participants for both global decline and cognitive impairment risk.
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Our data provide support for TOMM40 variant repeat length as an important contributor to AD-like Medial Temporal Lobe pathology in the absence of APOE epsilon4.
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Survival analyses suggest that AD patients with TOMM40 allele rs2075650-G have an average age of disease onset of 6 years earlier compared with carriers of the A allele. The age of disease onset is earlier if APOE4/4 is present in the Colombian population studied.
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report association of APOE and TOMM40 with behavioural variant frontotemporal dementia, and ARHGAP35 and SERPINA1 with progressive non-fluent aphasia.
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Among white women, three single nucleotide polymorphisms (SNPs) (rs2075650 [TOMM40], rs4420638 [APOC1], and rs429358 [APOE]) were significantly associated with survival to 90 years after correction for multiple testing (p < .001); rs4420638 and rs429358 were also significantly associated with healthy aging (p = .02). In African American women, no SNP was associated with longevity. In Hispanic women, 7 SNPs in linkage dise
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Each epsilon4 allele doubled the risk for AD dementia and the dose effect was evident. Almost identical effect size and effect pattern were observed for TOMM40 '523-L
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meta-analysis to investigate the association between rs2075650 polymorphism and Alzheimer's disease (AD) in Asian, Caucasian, and mixed populations; analysis shows TOMM40 rs2075650 polymorphism is associated with AD susceptibility in Asian, Caucasian, and mixed populations
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Results reveal an association of APOE epsilon3/3-TOMM40'523 haplotypes with cognitive decline in community-based older persons such that the S/S poly-T genotype is related to faster cognitive decline, primarily in the domains of episodic and semantic memory.
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These findings indicated that variants in TOMM40/APOE/APOC1 region might be associated with human longevity. Further studies are needed to identify the causal genetic variants influencing human longevity.
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Our results do not support the notion that TOMM40 poly-T repeat variants have independent effects on Parkinson's disease with dementia and Dementia with Lewy bodies pathology
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rs2075650 polymorphism in TOMM40 gene may increase the risk of Alzheimer disease.
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investigate the influence of the TOMM40 intron 6 poly-T variant (rs10524523) on TOMM40 gene expression and cognitive abilities and decline in a cohort of 1613 community-dwelling elderly volunteers
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rs2075650 at intron region TOMM40 is associated with the A beta-42 levels in CSF.
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No significant effects of APOE epsilon or TOMM40 523 genotypes on white matter hyperintensities or cerebral microbleed burden were found amongst 624 participants
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Epilepsy, impaired fine motor function and gastrostomy tube feeding were less common in cerebral palsy children with single nucleotide polymorphisms in the APOE or TOMM40 genes
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Its variants are related to impairment in allocentric spatial navigation and reduced cortical thickness of specific brain regions among aMCI individuals with (LOAD neutral) APOE epsilon3/epsilon3 genotype.
