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Annals of Clinical and Translational Neurology, 2020.7(8), 1443-1449, DOI: https://doi.org/10.1002/acn3.51125
Biallelic mutations in ABCB1 display recurrent reversible encephalopathy
Jieun Seo, Jin Chul Paeng; Hyun W. Kwon; Duckgue Lee; Soon-Chan Kim; Jaeseok Han; Ja-Lok Ku; Jong Hee Chae; Byung Chan Lim; Murim Choi
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 [11C]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.
- DOI: https://doi.org/10.1002/acn3.51125
- ISBN or ISSN: 2328-9503
- 본 연구는 질병관리본부 연구개발과제연구비를 지원받아 수행되었습니다.
- This research was supported by a fund by Research of Korea Centers for Disease Control and Prevention.