Mitochondrial dysfunction has been implicated in the pathophysiology of Parkinson's disease (PD)-related pathologies.
To investigate the role of the Translocase of the Outer Mitochondrial Membrane 40 homolog (TOMM40) variants in PD without dementia (PDND), PD with dementia (PDD) and in Dementia with Lewy bodies (DLB).
248 individuals, including 92 PDND, 55 PDD, and 101 DLB, were included. The rs10524523 locus in the TOMM40 gene (TOMM40 poly-T repeat) is characterized by a variable number of T residues that were classified into three groups based on length; short (S), long (L), and very long (VL). We tested log-additive genetic model of association with dementia and adjusted for age, sex, and APOEɛ4 carrier status. We analyzed cerebrospinal fluid (CSF) levels of Aβ42 and Tau, biomarkers related to Alzheimer's disease (AD).
PDD/DBL status and abnormal CSF AD biomarkers (Aβ42 and Aβ42/Tau ratio) were both associated with the APOEɛ4 allele (p < 0.014) and the L allele of TOMM40 poly-T repeat (p < 0.008). The VL allele was less frequently observed in the PDD/DLB group (p = 0.013). In APOE-ɛ4 adjusted analyses, the relationships between the L and VL alleles and dementia status as well as CSF AD biomarkers were not significant. When adjusting for APOE-ɛ4, however, there were associations between S carrier status and PDD/DLB (p = 0.019) and abnormal CSF levels of Aβ42/Tau ratio (p = 0.037) although these were not significant after adjustment for multiple comparisons.
Our results do not support the notion that TOMM40 poly-T repeat variants have independent effects on PDD and DLB pathology. This relationship seems to be driven by APOE-ɛ4.
Pharmacology, Toxicology and Pharmaceutical Science
4
11%
Agricultural and Biological Sciences
3
8%
Psychology
3
8%
Other
5
14%
Unknown
10
28%
Attention Score in Context
Attention Score in Context
This research output has an Altmetric Attention Score of 10. This is our high-level measure of the quality and quantity of online attention that it has received. This Attention Score, as well as the ranking and number of research outputs shown below, was calculated when the research output was last mentioned on 18 January 2016.
All research outputs
#3,933,987
of 27,519,968 outputs
Outputs from Journal of Parkinson's Disease
#409
of 1,179 outputs
Outputs of similar age
#60,239
of 407,791 outputs
Outputs of similar age from Journal of Parkinson's Disease
#2
of 15 outputs
Altmetric has tracked 27,519,968 research outputs across all sources so far. Compared to these this one has done well and is in the 85th percentile: it's in the top 25% of all research outputs ever tracked by Altmetric.
So far Altmetric has tracked 1,179 research outputs from this source. They typically receive a lot more attention than average, with a mean Attention Score of 17.5. This one has gotten more attention than average, scoring higher than 64% of its peers.
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We're also able to compare this research output to 15 others from the same source and published within six weeks on either side of this one. This one has done well, scoring higher than 86% of its contemporaries.
