Actg2D245G mutation cause megacystis-microcolon-intestinal hypoperistalsis syndrome by impairing smooth muscle contractility
Topic overview
This study examines how a specific ACTG2 gene mutation (D245G) causes megacystis-microcolon-intestinal hypoperistalsis syndrome, a rare congenital condition affecting smooth muscle function in the urinary and digestive systems. The research investigates the molecular mechanisms linking this genetic variant to impaired muscle contractility and resulting clinical phenotypes.
Key takeaways
- MMIHS is caused by smooth muscle contractile dysfunction affecting both urinary and digestive systems
- ACTG2 gene mutations are the primary genetic cause of MMIHS (OMIM:619431)
- The Actg2D245G mutation specifically impairs smooth muscle contractility leading to MMIHS phenotype
- Understanding ACTG2 mutations enables genetic diagnosis and counseling for this congenital disorder
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How to cite: GlobalCastMD. Actg2D245G mutation cause megacystis-microcolon-intestinal hypoperistalsis syndrome by impairing smooth muscle contractility. GlobalCastMD Medical Library. 2025-07-03. https://dev.library.globalcastmd.com/article/10634?via_space=staycurrentmd
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