The effects of an intronic polymorphism in TOMM40 and APOE genotypes in sporadic inclusion body myositis.
London, United Kingdom. In Neurobiol Aging, Apr 2015
A previous study showed that, in carriers of the apolipoprotein E (APOE) genotype ε3/ε3 or ε3/ε4, the presence of a very long (VL) polyT repeat allele in "translocase of outer mitochondrial membrane 40" (TOMM40) was less frequent in patients with sporadic inclusion body myositis (sIBM) compared with controls and associated with a later age of sIBM symptom onset, suggesting a protective effect of this haplotype.
Stimulatory Effects of Balanced Deep Sea Water on Mitochondrial Biogenesis and Function.
Taegu, South Korea. In Plos One, Dec 2014
Quantitative real-time PCR revealed that BDSW enhances gene expression of PGC-1α, NRF1, and TFAM for mitochondrial transcription; MFN1/2 and DRP1 for mitochondrial fusion; OPA1 for mitochondrial fission; TOMM40 and TIMM44 for mitochondrial protein import; CPT-1α and MCAD for fatty acid oxidation; CYTC for oxidative phosphorylation.
The Broad Impact of TOM40 on Neurodegenerative Diseases in Aging.
Durham, United States. In J Parkinsons Dis Alzheimers Dis, Nov 2014
A polymorphism in Translocase of the Outer Mitochondrial Membrane - 40 kD (TOMM40) is associated with risk and age-of onset of late-onset AD, and is the only nuclear- encoded gene identified in genetic studies to date that presumably contributes to LOAD-related mitochondria dysfunction.
[TOMM40 gene polymorphism association with lipid profile].
In Genetika, Feb 2014
The distribution of the allele and genotype frequency for the TOMM40 gene polymorphic variants rs741780, rs157580, rs1160985, rs2075650, and rs8106922 was analyzed in a sampling of ethnic Russians from the city of Kemerovo.
[Risk factors for Alzheimer's disease].
Kanazawa, Japan. In Brain Nerve, 2010
In addition, several genes such as CTNNA3, GAB2, PVRL2, TOMM40, and APOC1 are known to be the risk factors that contribute to AD pathogenesis.
An inherited variable poly-T repeat genotype in TOMM40 in Alzheimer disease.
Durham, United States. In Arch Neurol, 2010
I coauthored a recently published research article describing a variable length, poly-T polymorphism in the TOMM40 gene, adjacent to apolipoprotein E (APOE) on chromosome 19, that accounts for the age at onset distribution for a complex disease, late-onset Alzheimer disease.