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Article

Structural and functional gastrointestinal abnormalities in ACTA2 R179H mice modeling multisystemic smooth muscle dysfunction syndrome.

JCI insight - 23 Feb 2026

Rahman Ahmed A, Stavely Rhian, Ott Leah C, Han Christopher Y, Ohishi Kensuke, Hotta Ryo, Burns Alan J, Das Sabyasachi, Da Cruz Emily, Tambala Diana, Lindsay Mark E, Musolino Patricia L, Goldstein Allan M

Abstract excerpt

Multisystemic smooth muscle dysfunction syndrome (MSMDS) is a rare disorder caused by ACTA2 mutations, including the R179H variant, which alters actin filament stability and dynamics and smooth muscle contractility. Cardiovascular complications dominate its clinical presentation, but gastrointestinal (GI) dysfunction significantly affects quality of life. To investigate the structural, functional, and cellular...

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Source

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Identifiers

PMID: 41493807
DOI: 10.1172/jci.insight.190469
PMCID: PMC12956000

Genes

ACTA2

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026.

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