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ATP-binding cassette or ABC transporter is the largest superfamily of integral membrane proteins. The transporters have transmembrane-binding domains (TMDs) and nucleotide-binding domains (NBDs). The TMDs are specific to their substrates, whereas the NBDs are similar to engines that complete ATP hydrolysis to complete the substrate transport. They can be full transporters consisting of two TMDs and NBDs, half transporters with one TMD and NBD, while some encoded with a single TMD or NBD are...
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Biallelic mutations in ABCB1 display recurrent reversible encephalopathy.

Jieun Seo1, Cho-Rong Lee1, Jin Chul Paeng2

  • 1Department of Biomedical Sciences, Seoul National University College of Medicine, Seoul, Republic of Korea.

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Mutations in ABCB1 cause recurrent reversible encephalopathy in twin sisters by impairing brain xenobiotic clearance. This study reveals ABCB1

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Area of Science:

  • Neuroscience
  • Genetics
  • Pharmacology

Background:

  • ABCB1 gene encodes P-glycoprotein, a crucial efflux transporter at the blood-brain barrier.
  • The clinical significance of ABCB1 mutations in neurological disorders remains largely uncharacterized.
  • Understanding ABCB1's role is vital for brain homeostasis and drug delivery.

Observation:

  • Twin sisters presented with recurrent, reversible encephalopathy episodes associated with febrile or afebrile illnesses.
  • Whole-exome sequencing identified compound heterozygous loss-of-function variants in ABCB1 in the affected twins.
  • Positron emission tomography ([11C]verapamil PET) revealed significantly reduced xenobiotic clearance in the patients' brains.

Findings:

  • The identified ABCB1 variants lead to impaired P-glycoprotein function, compromising the brain's ability to clear xenobiotics.
  • ABCB1 deficiency in mice models demonstrated reduced clearance of endogenous cytokines from the brain.
  • This establishes a direct link between ABCB1 dysfunction and impaired brain clearance mechanisms.

Implications:

  • These findings highlight the critical role of ABCB1 in maintaining brain homeostasis by regulating the clearance of various compounds.
  • Defects in ABCB1 may predispose individuals to neurological dysfunction and encephalopathy.
  • This research opens new avenues for understanding and potentially treating neurological disorders linked to transporter dysfunction.