February 18, 2025Journal of Biological ChemistryOpen Access

Microvillus inclusion disease-causing MYO5B point mutations exert differential effects on motor function

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Why the study?

How MYO5B point mutations lead to a broad spectrum of disease severity and two distinct MVID phenotypes was not known.

Design

In vitro imaging and fluorescence recovery after photobleaching study

Authors

DBDeanna M. Bowman LMLeslie M. MeenderinkVA Tennessee Valley Healthcare System EMElizabeth H. ManningNashville VA Medical Center

Discussion

Member takes

Implication

Does not yet alter MVID management; extends understanding of MYO5B mutation effects on disease variability.

Structured PICO

Population

In vitro models expressing MYO5B motor domain with Microvillus inclusion disease (MVID) patient point mutations

Intervention

MVID patient point mutations

Outcome

Function of the MYO5B motor domain (actin binding, turnover kinetics) measured by confocal imaging and fluorescence recovery after photobleachingsurrogate

MVID patient point mutations affect the MYO5B motor domain in diverse ways, which may explain the broad spectrum of disease severity and distinct phenotypes observed in patients.

Cite This Study

Bowman et al. (2025) studied this question.

synapsesocial.com/papers/6a82c1939192075d3cd4b4ad https://doi.org/10.1016/j.jbc.2025.108328

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Microvillus inclusion disease-causing MYO5B point mutations exert differential effects on motor function

Discussion

Member takes

Implication

Structured PICO

Cite This Study

Microvillus inclusion disease-causing MYO5B point mutations exert differential effects on motor function

Discussion

Member takes

Implication

Structured PICO

Cite This Study

Also Consider

Also Consider