ArticleGastroenterology report2026
Microvillus inclusion disease-associated MYO5B deficiency impairs endosome-to-mitochondrion iron transfer.
Article in Gastroenterology report, 2026. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.
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Abstract
Background: MYO5B deficiency causes microvillus inclusion disease (MVID), characterized by the inability to absorb dietary nutrients and secretory diarrhea. MVID intestinal tissue shows metabolic abnormalities, but the causality with MYO5B and the underlying mechanism are unknown. The aim of this study was to determine the effects of MYO5B deficiency on mitochondria as key regulators of cellular metabolism and the underlying mechanism. Methods: Intestinal tissue from MVID patients and inducible intestine-specific Results: MYO5B-deficient Caco2 cells showed fragmented and swollen mitochondria, reduced intra-mitochondrial cristae, defective aerobic respiration, reduced mitochondrial membrane potential, and increased mitochondrial oxidative stress. Introduction of a myc-tagged full-length MYO5B in Conclusion: MYO5B deficiency impairs endosome-to-mitochondrial iron transfer, leading to mitochondrial dysfunction. These results offer a novel therapeutic avenue aimed at restoring mitochondrial function in MVID.
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