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KBTBD13 and the ever-expanding sarcomeric universe

Research output: Contribution to journalReview article

Stuart G. Campbell, Steven A. Niederer

Original languageEnglish
Pages (from-to)593-594
Number of pages2
JournalJournal of Clinical Investigation
Volume130
Issue number2
DOIs
Publication statusPublished - 3 Feb 2020

King's Authors

Abstract

KBTBD13 is a protein expressed in striated muscle whose precise function is unknown. Work by de Winter et al. in this issue of the JCI provides evidence that KBTBD13 localizes to the sarcomere and can directly bind actin. A mutation in KBTBD13 that is associated with nemaline myopathy alters the protein's effects on actin, apparently increasing thin-filament stiffness and ultimately depressing contractile force and relaxation rate. We discuss here the implications of this new sarcomeric protein, some alternate explanations for the effects of KBTBD13R408C, and the advantages of using computational models to interpret functional data from muscle.

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