mtDNA Polymorphisms in Japanese Sporadic Alzheimer’s Disease

Tanno, Y; Okuizumi, Kaoru; Tsuji, Shoji

doi:10.1016/s0197-4580(98)00028-1

Cited by 28 publications

(15 citation statements)

References 20 publications

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“…Although several mtDNA mutations/polymorphisms, such as 5460A, 19 4336C, [20][21][22] and 3397G, 20 have been associated with Alzheimer's disease, these findings have not been replicated by later studies. [23][24][25][26][27][28] And although heteroplasmic mutations were found in platelets from patients with Alzheimer's disease, 29 this was later found to be an artifact produced by pseudogenes from the nuclear genome. [30][31][32] Although increased levels of deletion in brains postmortem were reported, again this was not confirmed in subsequent studies.…”

Section: Neurodegenerative Disordersmentioning

confidence: 99%

The other, forgotten genome: mitochondrial DNA and mental disorders

Kato

2001

Mol Psychiatry

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This paper summarizes recent research on mitochondrial DNA (mtDNA)-which might be described as the 'other, forgotten genome'. Recent studies suggest the possible pathophysiological significance of mtDNA in schizophrenia and neurodegenerative and mood disorders. Decreased activity of the mitochondrial electron transport chain has been implicated in both Parkinson's and Alzheimer's disease and while age-related accumulation of mtDNA deletions has been suggested as a possible cause, there is no concrete evidence that particular mtDNA polymorphisms are responsible. In schizophrenia, the activity and/or mRNA expression of complex IV are involved, but the direction of the alteration is not the same and there is no evidence linking schizophrenia with mtDNA. In bipolar disorder, there is some evidence of parent-of-origin effects and association with mtDNA polymorphisms but further investigation is needed to elucidate the role of mtDNA in mental disorders. Molecular Psychiatry (2001) 6, 625-633.

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Section: Neurodegenerative Disordersmentioning

confidence: 99%

The other, forgotten genome: mitochondrial DNA and mental disorders

Kato

2001

Mol Psychiatry

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“…However, these studies were small and most of the identified variants have not been confirmed [77, 79–84]. In the present study, we first set out to assess the role of common mtDNA haplogroups and individual variants in dementia risk and longitudinal cognitive change among 1,631 participants from the population-based Health, Aging, and Body Composition (Health ABC) Study.…”

Section: Introductionmentioning

confidence: 99%

Mitochondrial DNA Sequence Variation Associated with Dementia and Cognitive Function in the Elderly

Tranah

Nalls

Katzman

et al. 2012

JAD

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Mitochondrial dysfunction is a prominent hallmark of Alzheimer's disease (AD). Mitochondrial DNA (mtDNA) damage may be a major cause of abnormal reactive oxidative species production in AD or increased neuronal susceptibility to oxidative injury during aging. The purpose of this study was to assess the influence of mtDNA sequence variation on clinically significant cognitive impairment and dementia risk in the population-based Health, Aging, and Body Composition (Health ABC) Study. We first investigated the role of common mtDNA haplogroups and individual variants on dementia risk and 8-year change on the Modified Mini-Mental State Examination (3MS) and Digit Symbol Substitution Test (DSST) among 1,631 participants of European genetic ancestry. Participants were free of dementia at baseline and incidence was determined in 273 cases from hospital and medication records over 10–12 follow-up years. Participants from haplogroup T had a statistically significant increased risk of developing dementia (OR = 1.86, 95% CI = 1.23, 2.82, p = 0.0008) and haplogroup J participants experienced a statistically significant 8-year decline in 3MS (β = −0.14, 95% CI = −0.27, −0.03, p = 0.0006), both compared with common haplogroup H. The m.15244A>G, p.G166G, CytB variant was associated with a significant decline in DSST score (β = −0.58, 95% CI −0.89, −0.28, p = 0.00019) and the m.14178T>C, p.I166V, ND6 variant was associated with a significant decline in 3MS score (β = −0.87, 95% CI −1.31, −3.86, p = 0.00012). Finally, we sequenced the complete ∼16.5 kb mtDNA from 135 Health ABC participants and identified several highly conserved and potentially functional nonsynonymous variants unique to 22 dementia cases and aggregate sequence variation across the hypervariable 2-3 regions that influences 3MS and DSST scores.

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“…Since haplogroup H has been found less than three times among 1175 non-whites,15 the lack of the 4336A>G mutation in Japanese patients28 is not surprising. Sequence analysis of our patients and controls indicated that 4336A>G occurs together with 14766T>C and 16304T>C, suggesting that it occupies a specific branch in the phylogenetic network.…”

Section: Discussionmentioning

confidence: 99%

Increased risk of sensorineural hearing loss and migraine in patients with a rare mitochondrial DNA variant 4336A>G in tRNA^Gln

et al. 2001

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mtDNA Polymorphisms in Japanese Sporadic Alzheimer’s Disease

Cited by 28 publications

References 20 publications

The other, forgotten genome: mitochondrial DNA and mental disorders

The other, forgotten genome: mitochondrial DNA and mental disorders

Mitochondrial DNA Sequence Variation Associated with Dementia and Cognitive Function in the Elderly

Increased risk of sensorineural hearing loss and migraine in patients with a rare mitochondrial DNA variant 4336A>G in tRNA^Gln

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mtDNA Polymorphisms in Japanese Sporadic Alzheimer’s Disease

Cited by 28 publications

References 20 publications

The other, forgotten genome: mitochondrial DNA and mental disorders

The other, forgotten genome: mitochondrial DNA and mental disorders

Mitochondrial DNA Sequence Variation Associated with Dementia and Cognitive Function in the Elderly

Increased risk of sensorineural hearing loss and migraine in patients with a rare mitochondrial DNA variant 4336A>G in tRNAGln

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Product

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Increased risk of sensorineural hearing loss and migraine in patients with a rare mitochondrial DNA variant 4336A>G in tRNA^Gln