Biallelic mutations in ABCB1 display recurrent reversible encephalopathyopen access
- Authors
- Seo, Jieun; Lee, Cho-Rong; Paeng, Jin Chul; Kwon, Hyun W.; Lee, Duckgue; Kim, Soon-Chan; Han, Jaeseok; Ku, Ja-Lok; Chae, Jong Hee; Lim, Byung Chan; Choi, Murim
- Issue Date
- Aug-2020
- Publisher
- John Wiley and Sons Ltd
- Keywords
- ABCB1; Encepahalophathy
- Citation
- Annals of Clinical and Translational Neurology, v.7, no.8, pp 1443 - 1449
- Pages
- 7
- Journal Title
- Annals of Clinical and Translational Neurology
- Volume
- 7
- Number
- 8
- Start Page
- 1443
- End Page
- 1449
- URI
- https://scholarworks.bwise.kr/sch/handle/2021.sw.sch/2619
- DOI
- 10.1002/acn3.51125
- ISSN
- 2328-9503
- Abstract
- The clinical phenotype linked with mutations in ABCB1, encoding P-glycoprotein, has never been reported. Here, we describe twin sisters with biallelic mutations in ABCB1 who showed recurrent reversible encephalopathy accompanied by acute febrile or afebrile illness. Whole-exome sequencing was performed on one of the twin and her healthy parents, and revealed compound heterozygous loss-of-function variants in ABCB1. The patient brains displayed substantial loss of xenobiotic clearance ability, as demonstrated by [C-11]verapamil positron emission tomography (PET) study, linking this phenotype with ABCB1 function. The endogenous cytokine clearance from the brain was also decreased in LPS-treated ABCB1 knockout mice compared to controls. The results provide insights into the physiological requirement of ABCB1 in maintaining homeostasis of various compounds for normal brain function.
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Collections - Graduate School > Department of Integrated Biomedical Science > 1. Journal Articles
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