Alzheimer pathology associated with POLG1 mutation, multiple mtDNA deletions, and APOE4/4: premature ageing or just coincidence?

Melberg, Atle; Nennesmo, Inger; Moslemi, Ali‐Reza; Kollberg, Gittan; Luoma, Petri; Suomalainen, Anu; Holme, E; Oldfors, Anders

doi:10.1007/s00401-005-1047-z

Cited by 16 publications

(15 citation statements)

References 6 publications

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“…The first is the advanced aging phenotype of mice carrying an exonuclease deficient PolG [77]. The second is the recent description of an individual with a PolG mutation that produced not only an increase in mtDNA mutagenesis but a pronounced AD phenotype [78]. The final piece of evidence is that reverse transcriptase inhibitors, potent inhibitors of PolG that cause a dose dependent increase in mtDNA mutational burden, utilized as part of the anti-HIV HAART regimen cause Aβ deposition and an AD phenotype (Achim and Pulliam, Society for Neuroscience Abstracts, 2004).…”

Section: Increase In Mtdna Mutational Burdenmentioning

confidence: 98%

Oxidative Stress, Mitochondrial Dysfunction, and Stress Signaling in Alzheimers Disease

Onyango

Khan²

2006

CAR

114

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Although oxidative stress and mitochondrial dysfunction have been linked to neurodegenerative diseases such as Alzheimer's disease (AD), it remains unclear how mitochondrial oxidative stress may induce neuronal death. In a variety of tissues, cumulative oxidative stress, disrupted mitochondrial respiration, and mitochondrial damage are associated with, and may indeed promote cell death and degeneration. In this review, we examine current evidence supporting the involvement of mitochondria and mitochondrially generated stress signaling in AD and discuss potential implications for the mechanism of pathogenesis of this disease. Mitochondria are pivotal in controlling cell life and death not only by producing ATP, and sequestering calcium, but by also generating free radicals and serving as repositories for proteins which regulate the intrinsic apoptotic pathway. Perturbations in the physiological function of mitochondria inevitably disturb cell function, sensitize cells to neurotoxic insults and may initiate cell death, all significant phenomena in the pathogenesis of a number of neurodegenerative disorders including AD.

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Section: Increase In Mtdna Mutational Burdenmentioning

confidence: 98%

Oxidative Stress, Mitochondrial Dysfunction, and Stress Signaling in Alzheimers Disease

Onyango

Khan²

2006

CAR

114

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“…Likevel viser denne studien at mange pasienter, og spesielt de med ikke-ST-elevasjonsinfarkt, ikke fikk tilbud om slik utredning og følgelig heller ikke mulighet for perkutan koronar intervensjon. (23). Tilsvarende kjønnsforskjell er også nylig publisert i en fransk landsomfattende registerstudie (12).…”

Section: Diskusjonunclassified

“…Vi har i denne studien ikke undersøkt om det forelå forskjeller på sykehusnivå -ulike lokale behandlingstradisjoner kan også ha hatt betydning. Det er tidligere vist at flere pasienter med hjerteinfarkt ble invasivt utredet dersom de ble innlagt i sykehus der det var tilbud om koronar angiografi (23).…”

Section: Diskusjonunclassified

“…Både korttids-og langtidsoverlevelsen etter hjerteinfarkt er betydelig forbedret de siste tiårene hos både kvinner og menn, men enkelte studier har vist dårligere overlevelse hos kvinner, spesielt ved ST-elevasjonsinfarkt (14 -21). I Norge har det også vaert påvist kjønnsforskjeller når det gjelder behandling av pasienter med hjerteinfarkt (22,23). Europeiske retningslinjer for behandling av hjerteinfarkt anbefaler at man ikke skiller mellom kvinner og menn i utredning og behandling (24 -26).…”

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Kjønnsforskjeller i utredning og behandling av hjerteinfarkt

et al. 2016

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“…A single report has described a patient with autosomal dominant PEO caused by a POLG1 mutation, who also developed Alzheimer's symptoms before the patient died at age 60 [45]. The patient had an ApoE4/4 (apolipoprotein E4/4) genotype and neuropathological examination showed severe loss of dopaminergic neurons of the SN with no Lewy bodies, but the patient did have neurofibrillary tangles in the hippocampus, entorhinal cortex, amygdale and neuritic plaques, plus evidence of phosphorylated tau protein in the neocortex.…”

Section: Ad (Alzheimer's Disease)mentioning

confidence: 97%

Do mitochondrial DNA mutations have a role in neurodegenerative disease?

Krishnan

Reeve

Turnbull

2007

Biochemical Society Transactions

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A decline in mitochondrial function has long been shown to exist in neurodegenerative disease. Whether this decline is a secondary consequence of other factors or whether it causes the eventual death of a cell is unknown. In this review, we will discuss some of the major evidence surrounding mitochondrial DNA mutations leading to mitochondrial dysfunction in neurodegenerative disease and discuss their possible role in neurodegeneration.

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Alzheimer pathology associated with POLG1 mutation, multiple mtDNA deletions, and APOE4/4: premature ageing or just coincidence?

Cited by 16 publications

References 6 publications

Oxidative Stress, Mitochondrial Dysfunction, and Stress Signaling in Alzheimers Disease

Oxidative Stress, Mitochondrial Dysfunction, and Stress Signaling in Alzheimers Disease

Kjønnsforskjeller i utredning og behandling av hjerteinfarkt

Do mitochondrial DNA mutations have a role in neurodegenerative disease?

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