Unequal Effects of Myosin 5B Mutations in Liver and Intestine Determine the Clinical Presentation of Low-Gamma-Glutamyltransferase Cholestasis

Sven C. D. van IJzendoorn*, Qinghong Li, Yi-ling Qiu, Jian-She Wang, Arend W. Overeem

*Corresponding author for this work

Research output: Contribution to journalReview articleAcademicpeer-review

8 Citations (Scopus)
28 Downloads (Pure)

Abstract

Mutations in the MYO5B gene cause in some patients low gamma-glutamyltransferase (low-GGT) cholestatic liver disease (CLD) and in other patients microvillus inclusion disease (MVID, a congenital diarrheal and malabsorption disorder). Overlap of symptoms occurs but more MVID patients present cholestasis than CLD patients present diarrhea. Clinical observations indicate that MYO5B mutations can cause but also protect against CLD. This complicates family counseling and therapeutic decisions. Here we have reviewed the literature on MYO5B mutations in relation to CLD. It appears that variations in the clinical presentation of low-GGT CLD can be attributed to the coincident expression but unequal effects of MYO5B mutations in hepatocytes versus enterocytes, two cell types that jointly constitute the core of the enterohepatic circulation. Therefore, contrasting other low-GGT CLDs, those associated with MYO5B mutations should be viewed as a disease of the enterohepatic circulation rather than solely of the liver.

Original languageEnglish
Pages (from-to)1461-1468
Number of pages8
JournalHepatology
Volume72
Issue number4
Early online date24-Jun-2020
DOIs
Publication statusPublished - Oct-2020

Keywords

  • MICROVILLUS INCLUSION DISEASE
  • MYO5B MUTATIONS
  • ABC TRANSPORTER
  • BILE-ACIDS
  • CHILDREN
  • FAILURE
  • VB
  • RAB11A
  • GENE

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