Cited by 133Congenital heart defects researchDevelopmental Biology and Gene RegulationCardiac electrophysiology and arrhythmias

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Disruption of Planar Cell Polarity Signaling Results in Congenital Heart Defects and Cardiomyopathy Attributable to Early Cardiomyocyte Disorganization

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Phillips, Helen M., Rhee, Hong Jun, Murdoch, Jennifer N., Hildreth, Victoria, Peat, Jonathan D., Anderson, Robert H., Copp, Andrew J., Chaudhry, Bill, Henderson, Deborah J.·2007·Circulation Research

DOI 10.1161/circresaha.106.142406

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Abstract

The Drosophila scribble gene regulates apical-basal polarity and is implicated in control of cellular architecture and cell growth control. Mutations in mammalian Scrib ( circletail ; Crc mutant) also result in abnormalities suggestive of roles in planar cell polarity regulation. We show that Crc mutants develop heart malformations and cardiomyopathy attributable to abnormalities in cardiomyocyte organization within the early heart tube. N-Cadherin is lost from the cardiomyocyte cell membrane and cell–cell adhesion is disrupted. This results in abnormalities in heart looping and formation of both the trabeculae and compact myocardium, which ultimately results in cardiac misalignment defects and ventricular noncompaction. Thus, these late abnormalities arise from defects occurring at the earliest stages of heart development. Mislocalization of Vangl2 in Crc/Crc cardiomyocytes suggests Scrib is acting in the planar cell polarity pathway in this tissue. Moreover, double heterozygosity for mutations in both Scrib and Vangl2 can cause cardiac defects similar to those found in homozygous mutants for each gene but without other major defects. We propose that heterozygosity for mutations in different genes in the planar cell polarity pathway may be an important mechanism for congenital heart defects and cardiomyopathy in humans.

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Authors: Phillips, H. M., Rhee, H. J., Murdoch, J. N., Hildreth, V., Peat, J. D., Anderson, R. H., Copp, A. J., Chaudhry, B., & Henderson, D. J.
Affiliations: University College London (GB)
ORCID: Phillips, Helen M.
Anderson, Robert H.
Copp, Andrew J.
Chaudhry, Bill
Henderson, Deborah J.
Venue: Circulation Research
Publisher: Ovid Technologies (Wolters Kluwer Health)
Published: 2007-07-20
Volume: 101
Issue: 2
Pages: 137-145
ISSN: 0009-7330 (ISSN-L)
1524-4571
DOI: 10.1161/circresaha.106.142406
OpenAlex: W2140577425
Cited by: 133
References: 28
Citations by year: 2026: 4 · 2025: 2 · 2024: 10 · 2023: 4 · 2022: 7 · 2021: 4 · 2020: 4 · 2019: 5 · 2018: 13 · 2017: 5 · 2016: 5 · 2015: 9 · 2014: 6 · 2013: 7 · 2012: 10
FWCI: 3.84
Type: journal article
Language: en
Open access: bronze
doi.org
Locations: Circulation Research (publishedVersion)
PubMed (publishedVersion)
UCL Discovery (University College London) (submittedVersion)
Newcastle University ePrints (Newcastle Univesity)
Funders: Wellcome Trust (068883)
British Heart Foundation (PG/11/76/29108)
Medical Research Council
Topics: Life Sciences › Biochemistry, Genetics and Molecular Biology › Molecular Biology › Congenital heart defects research
Life Sciences › Biochemistry, Genetics and Molecular Biology › Molecular Biology › Developmental Biology and Gene Regulation
Health Sciences › Medicine › Cardiology and Cardiovascular Medicine › Cardiac electrophysiology and arrhythmias
Keywords: planar cell polarity, Scribble, Vangl2, congenital heart disease, cardiomyopathy, heart tube, N-cadherin, cell-cell adhesion, heart looping, ventricular noncompaction, trabeculae, compact myocardium, heterozygosity, Drosophila heart development
MeSH terms: Animals, Breeding, Heart Defects, Congenital, Heart Ventricles, Heterozygote, Humans, Mice, Mutant Strains, Mutation, Cardiomyopathies, Myocardium, Nerve Tissue Proteins, Cell Polarity, Protein Transport, Myocytes, Cardiac, Intracellular Signaling Peptides and Proteins, Mice

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Disruption of Planar Cell Polarity Signaling Results in Congenital Heart Defects and Cardiomyopathy Attributable to Early Cardiomyocyte Disorganization

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