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Plasma amyloid-β ra...
Plasma amyloid-β ratios in autosomal dominant Alzheimer's disease: the influence of genotype.
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O'Connor, Antoinette (author)
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- Pannee, Josef, 1979 (author)
- Gothenburg University,Göteborgs universitet,Institutionen för neurovetenskap och fysiologi, sektionen för psykiatri och neurokemi,Institute of Neuroscience and Physiology, Department of Psychiatry and Neurochemistry
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Poole, Teresa (author)
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Arber, Charles (author)
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- Portelius, Erik, 1977 (author)
- Gothenburg University,Göteborgs universitet,Institutionen för neurovetenskap och fysiologi, sektionen för psykiatri och neurokemi,Institute of Neuroscience and Physiology, Department of Psychiatry and Neurochemistry
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Swift, Imogen J (author)
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Heslegrave, Amanda J (author)
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Abel, Emily (author)
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Willumsen, Nanet (author)
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Rice, Helen (author)
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Weston, Philip S J (author)
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Ryan, Natalie S (author)
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Polke, James M (author)
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Nicholas, Jennifer M (author)
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Mead, Simon (author)
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Wray, Selina (author)
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Chávez-Gutiérrez, Lucía (author)
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Frost, Chris (author)
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- Blennow, Kaj, 1958 (author)
- Gothenburg University,Göteborgs universitet,Institutionen för neurovetenskap och fysiologi, sektionen för psykiatri och neurokemi,Institute of Neuroscience and Physiology, Department of Psychiatry and Neurochemistry
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- Zetterberg, Henrik, 1973 (author)
- Gothenburg University,Göteborgs universitet,Institutionen för neurovetenskap och fysiologi, sektionen för psykiatri och neurokemi,Institute of Neuroscience and Physiology, Department of Psychiatry and Neurochemistry
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Fox, Nick C (author)
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(creator_code:org_t)
- 2021-04-23
- 2021
- English.
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In: Brain : a journal of neurology. - : Oxford University Press (OUP). - 1460-2156. ; 144:10, s. 2964-2970
- Related links:
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https://academic.oup...
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https://gup.ub.gu.se...
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https://doi.org/10.1...
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Abstract
Subject headings
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- In vitro studies of autosomal dominant Alzheimer's disease implicate longer amyloid-β peptides in disease pathogenesis; however, less is known about the behaviour of these mutations in vivo. In this cross-sectional cohort study, we used liquid chromatography-tandem mass spectrometry to analyse 66 plasma samples from individuals who were at risk of inheriting a mutation or were symptomatic. We tested for differences in amyloid-β (Aβ)42:38, Aβ42:40 and Aβ38:40 ratios between presenilin 1 (PSEN1) and amyloid precursor protein (APP) carriers. We examined the relationship between plasma and in vitro models of amyloid-β processing and tested for associations with parental age at onset. Thirty-nine participants were mutation carriers (28 PSEN1 and 11 APP). Age- and sex-adjusted models showed marked differences in plasma amyloid-β between genotypes: higher Aβ42:38 in PSEN1 versus APP (P<0.001) and non-carriers (P<0.001); higher Aβ38:40 in APP versus PSEN1 (P<0.001) and non-carriers (P<0.001); while Aβ42:40 was higher in both mutation groups compared to non-carriers (both P<0.001). Amyloid-β profiles were reasonably consistent in plasma and cell lines. Within the PSEN1 group, models demonstrated associations between Aβ42:38, Aβ42:40 and Aβ38:40 ratios and parental age at onset. In vivo differences in amyloid-β processing between PSEN1 and APP carriers provide insights into disease pathophysiology, which can inform therapy development.
Subject headings
- MEDICIN OCH HÄLSOVETENSKAP -- Medicinska och farmaceutiska grundvetenskaper -- Neurovetenskaper (hsv//swe)
- MEDICAL AND HEALTH SCIENCES -- Basic Medicine -- Neurosciences (hsv//eng)
Keyword
- amyloid-beta
- autosomal dominant Alzheimer’s disease
- blood biomarkers
- dementia
Publication and Content Type
- ref (subject category)
- art (subject category)
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- By the author/editor
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O'Connor, Antoin ...
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Pannee, Josef, 1 ...
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Poole, Teresa
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Arber, Charles
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Portelius, Erik, ...
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Swift, Imogen J
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show more...
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Heslegrave, Aman ...
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Abel, Emily
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Willumsen, Nanet
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Rice, Helen
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Weston, Philip S ...
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Ryan, Natalie S
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Polke, James M
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Nicholas, Jennif ...
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Mead, Simon
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Wray, Selina
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Chávez-Gutiérrez ...
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Frost, Chris
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Blennow, Kaj, 19 ...
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Zetterberg, Henr ...
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Fox, Nick C
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show less...
- About the subject
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- MEDICAL AND HEALTH SCIENCES
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MEDICAL AND HEAL ...
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and Basic Medicine
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and Neurosciences
- Articles in the publication
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Brain : a journa ...
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Brain
- By the university
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University of Gothenburg