TOMM40 and APOE Gene Expression and Cognitive Decline in Japanese Alzheimer's Disease Subjects

TOMM40 is located on chromosome 19, is in linkage disequilibrium with apolipoprotein E (APOE), andis reported in several genome-wide association studies to be associated with Alzheimer's disease (AD). Assess APOE and TOM40 and mitochondrial genes as blood biomarkers for AD. We examined TOMM40,...

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Vydáno v:Journal of Alzheimer's disease Ročník 60; číslo 3; s. 1107
Hlavní autoři: Mise, Ayano, Yoshino, Yuta, Yamazaki, Kiyohiro, Ozaki, Yuki, Sao, Tomoko, Yoshida, Taku, Mori, Takaaki, Mori, Yoko, Ochi, Shinichiro, Iga, Jun-Ichi, Ueno, Shu-Ichi
Médium: Journal Article
Jazyk:angličtina
Vydáno: Netherlands 01.01.2017
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ISSN:1875-8908, 1875-8908
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Abstract TOMM40 is located on chromosome 19, is in linkage disequilibrium with apolipoprotein E (APOE), andis reported in several genome-wide association studies to be associated with Alzheimer's disease (AD). Assess APOE and TOM40 and mitochondrial genes as blood biomarkers for AD. We examined TOMM40, PTEN-induced putative kinase 1 (PINK1), Parkin RBR E3 ubiquitin protein ligase (PARK2), and APOE mRNA expression in relation to the methylation rates of CpG sites in the upstream region of TOMM40exon 1 in peripheral leukocytes and TOMM40523 polyT genotypes in 60 AD and age- and sex-matched control subjects. TOMM40 mRNA expression was significantly lower in AD subjects (0.87±0.18 versus 1.0±0.23, p = 0.005), and PINK1 mRNA expression was higher in AD subjects (1.5±0.61 versus 1.0±0.52, p < 0.001). TOMM40 mRNA expression was significantly correlated with the Mini-Mental State Examination total score (r = 0.290, p = 0.027). There was no expressional change in peripheral APOE mRNA in either AD or control subjects (p = 0.32). Methylation rates in the upstream region of TOMM40exon 1 were not different between AD and control subjects (average rate: 1.37±0.99 versus 1.39±1.20, p = 0.885), and TOMM40523 polyT genotypes were also not different between AD and control subjects (p = 0.67). TOMM40 mRNA expression was lower in AD subjects and was correlated with cognitive decline. Significant changes in both TOMM40 and PINK1 mRNA may be related to mitochondrial dysfunction.
AbstractList TOMM40 is located on chromosome 19, is in linkage disequilibrium with apolipoprotein E (APOE), andis reported in several genome-wide association studies to be associated with Alzheimer's disease (AD). Assess APOE and TOM40 and mitochondrial genes as blood biomarkers for AD. We examined TOMM40, PTEN-induced putative kinase 1 (PINK1), Parkin RBR E3 ubiquitin protein ligase (PARK2), and APOE mRNA expression in relation to the methylation rates of CpG sites in the upstream region of TOMM40exon 1 in peripheral leukocytes and TOMM40523 polyT genotypes in 60 AD and age- and sex-matched control subjects. TOMM40 mRNA expression was significantly lower in AD subjects (0.87±0.18 versus 1.0±0.23, p = 0.005), and PINK1 mRNA expression was higher in AD subjects (1.5±0.61 versus 1.0±0.52, p < 0.001). TOMM40 mRNA expression was significantly correlated with the Mini-Mental State Examination total score (r = 0.290, p = 0.027). There was no expressional change in peripheral APOE mRNA in either AD or control subjects (p = 0.32). Methylation rates in the upstream region of TOMM40exon 1 were not different between AD and control subjects (average rate: 1.37±0.99 versus 1.39±1.20, p = 0.885), and TOMM40523 polyT genotypes were also not different between AD and control subjects (p = 0.67). TOMM40 mRNA expression was lower in AD subjects and was correlated with cognitive decline. Significant changes in both TOMM40 and PINK1 mRNA may be related to mitochondrial dysfunction.
TOMM40 is located on chromosome 19, is in linkage disequilibrium with apolipoprotein E (APOE), andis reported in several genome-wide association studies to be associated with Alzheimer's disease (AD).BACKGROUNDTOMM40 is located on chromosome 19, is in linkage disequilibrium with apolipoprotein E (APOE), andis reported in several genome-wide association studies to be associated with Alzheimer's disease (AD).Assess APOE and TOM40 and mitochondrial genes as blood biomarkers for AD.OBJECTIVEAssess APOE and TOM40 and mitochondrial genes as blood biomarkers for AD.We examined TOMM40, PTEN-induced putative kinase 1 (PINK1), Parkin RBR E3 ubiquitin protein ligase (PARK2), and APOE mRNA expression in relation to the methylation rates of CpG sites in the upstream region of TOMM40exon 1 in peripheral leukocytes and TOMM40523 polyT genotypes in 60 AD and age- and sex-matched control subjects.METHODSWe examined TOMM40, PTEN-induced putative kinase 1 (PINK1), Parkin RBR E3 ubiquitin protein ligase (PARK2), and APOE mRNA expression in relation to the methylation rates of CpG sites in the upstream region of TOMM40exon 1 in peripheral leukocytes and TOMM40523 polyT genotypes in 60 AD and age- and sex-matched control subjects.TOMM40 mRNA expression was significantly lower in AD subjects (0.87±0.18 versus 1.0±0.23, p = 0.005), and PINK1 mRNA expression was higher in AD subjects (1.5±0.61 versus 1.0±0.52, p < 0.001). TOMM40 mRNA expression was significantly correlated with the Mini-Mental State Examination total score (r = 0.290, p = 0.027). There was no expressional change in peripheral APOE mRNA in either AD or control subjects (p = 0.32). Methylation rates in the upstream region of TOMM40exon 1 were not different between AD and control subjects (average rate: 1.37±0.99 versus 1.39±1.20, p = 0.885), and TOMM40523 polyT genotypes were also not different between AD and control subjects (p = 0.67).RESULTSTOMM40 mRNA expression was significantly lower in AD subjects (0.87±0.18 versus 1.0±0.23, p = 0.005), and PINK1 mRNA expression was higher in AD subjects (1.5±0.61 versus 1.0±0.52, p < 0.001). TOMM40 mRNA expression was significantly correlated with the Mini-Mental State Examination total score (r = 0.290, p = 0.027). There was no expressional change in peripheral APOE mRNA in either AD or control subjects (p = 0.32). Methylation rates in the upstream region of TOMM40exon 1 were not different between AD and control subjects (average rate: 1.37±0.99 versus 1.39±1.20, p = 0.885), and TOMM40523 polyT genotypes were also not different between AD and control subjects (p = 0.67).TOMM40 mRNA expression was lower in AD subjects and was correlated with cognitive decline. Significant changes in both TOMM40 and PINK1 mRNA may be related to mitochondrial dysfunction.CONCLUSIONTOMM40 mRNA expression was lower in AD subjects and was correlated with cognitive decline. Significant changes in both TOMM40 and PINK1 mRNA may be related to mitochondrial dysfunction.
Author Sao, Tomoko
Ochi, Shinichiro
Iga, Jun-Ichi
Yoshino, Yuta
Ueno, Shu-Ichi
Yamazaki, Kiyohiro
Ozaki, Yuki
Mori, Takaaki
Mori, Yoko
Mise, Ayano
Yoshida, Taku
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  givenname: Yuta
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  organization: Department of Neuropsychiatry, Molecules and Function, Ehime University Graduate School of Medicine, Shitsukawa, Toon, Ehime, Japan
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  givenname: Kiyohiro
  surname: Yamazaki
  fullname: Yamazaki, Kiyohiro
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  givenname: Yuki
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  givenname: Takaaki
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  organization: Department of Neuropsychiatry, Molecules and Function, Ehime University Graduate School of Medicine, Shitsukawa, Toon, Ehime, Japan
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  givenname: Yoko
  surname: Mori
  fullname: Mori, Yoko
  organization: Department of Neuropsychiatry, Molecules and Function, Ehime University Graduate School of Medicine, Shitsukawa, Toon, Ehime, Japan
– sequence: 9
  givenname: Shinichiro
  surname: Ochi
  fullname: Ochi, Shinichiro
  organization: Department of Neuropsychiatry, Molecules and Function, Ehime University Graduate School of Medicine, Shitsukawa, Toon, Ehime, Japan
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  givenname: Jun-Ichi
  surname: Iga
  fullname: Iga, Jun-Ichi
  organization: Department of Neuropsychiatry, Molecules and Function, Ehime University Graduate School of Medicine, Shitsukawa, Toon, Ehime, Japan
– sequence: 11
  givenname: Shu-Ichi
  surname: Ueno
  fullname: Ueno, Shu-Ichi
  organization: Department of Neuropsychiatry, Molecules and Function, Ehime University Graduate School of Medicine, Shitsukawa, Toon, Ehime, Japan
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Keywords Parkin RBR E3 ubiquitin protein ligase (PARK2)
PTEN-induced putative kinase 1 (PINK1)
translocase of outer mitochondrial membrane 40 (TOMM40)
Alzheimer’s disease
apolipoprotein E (ApoE)
methylation
mitochondria
mRNA expression
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PublicationTitle Journal of Alzheimer's disease
PublicationTitleAlternate J Alzheimers Dis
PublicationYear 2017
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Snippet TOMM40 is located on chromosome 19, is in linkage disequilibrium with apolipoprotein E (APOE), andis reported in several genome-wide association studies to be...
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SubjectTerms Aged
Alzheimer Disease - blood
Alzheimer Disease - genetics
Apolipoproteins E - blood
Biomarkers - blood
Cognitive Dysfunction - blood
Cognitive Dysfunction - genetics
CpG Islands
DNA Methylation
Female
Gene Expression
Humans
Japan
Male
Membrane Transport Proteins - blood
Membrane Transport Proteins - genetics
Mental Status Schedule
Protein Kinases - blood
RNA, Messenger - blood
Ubiquitin-Protein Ligases - blood
Title TOMM40 and APOE Gene Expression and Cognitive Decline in Japanese Alzheimer's Disease Subjects
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