TY - JOUR
T1 - Plasma amyloid-β in patients with Tangier disease
AU - Shahim, Pashtun
AU - Bochem, Andrea E.
AU - Mattsson, Niklas
AU - Lautner, Ronald
AU - Blennow, Kaj
AU - Hovingh, G. Kees
AU - Motazacker, M. Mahdi
AU - Zetterberg, Henrik
PY - 2013
Y1 - 2013
N2 - Tangier disease (TD) is a rare genetic disorder caused by mutations in the ATP-binding cassette transporter A1 (ABCA1) gene, which results in impaired cellular cholesterol efflux and high-density lipoprotein cholesterol deficiency. Animal and in vitro studies indicate that ABCA1 is involved in the production of amyloid-β (Aβ), a pivotal protein in Alzheimer's disease. We here examined whether plasma Aβ levels are altered in TD patients. Plasma from 5 TD patients and 5 controls were analyzed for Aβ1-40, Aβ1-42, AβX-40, and AβX-42 but no differences were found. In conclusion, loss of ABCA1 function may not have any profound effect on Aβ metabolism in humans, at least not in the periphery, as reflected by plasma Aβ levels
AB - Tangier disease (TD) is a rare genetic disorder caused by mutations in the ATP-binding cassette transporter A1 (ABCA1) gene, which results in impaired cellular cholesterol efflux and high-density lipoprotein cholesterol deficiency. Animal and in vitro studies indicate that ABCA1 is involved in the production of amyloid-β (Aβ), a pivotal protein in Alzheimer's disease. We here examined whether plasma Aβ levels are altered in TD patients. Plasma from 5 TD patients and 5 controls were analyzed for Aβ1-40, Aβ1-42, AβX-40, and AβX-42 but no differences were found. In conclusion, loss of ABCA1 function may not have any profound effect on Aβ metabolism in humans, at least not in the periphery, as reflected by plasma Aβ levels
U2 - https://doi.org/10.3233/JAD-122425
DO - https://doi.org/10.3233/JAD-122425
M3 - Article
C2 - 23388172
SN - 1387-2877
VL - 35
SP - 307
EP - 312
JO - Journal of Alzheimer s disease
JF - Journal of Alzheimer s disease
IS - 2
ER -