Mutations in the NOTCH pathway regulator MIB1 cause left ventricular noncompaction cardiomyopathy
Mutations in the NOTCH pathway regulator MIB1 cause left ventricular noncompaction cardiomyopathy
Left ventricular noncompaction (LVNC) causes prominent ventricular trabeculations and reduces cardiac systolic function. The clinical presentation of LVNC ranges from asymptomatic to heart failure. We show that germline mutations in human MIB1 (mindbomb homolog 1), which encodes an E3 ubiquitin ligase that promotes endocytosis of the NOTCH ligands DELTA and JAGGED, cause LVNC in autosomal-dominant pedigrees, with affected individuals showing reduced NOTCH1 activity and reduced expression of target genes. Functional studies in cells and zebrafish embryos and in silico modeling indicate that MIB1 functions as a dimer, which is disrupted by the human mutations. Targeted inactivation of Mib1 in mouse myocardium causes LVNC, a phenotype mimicked by inactivation of myocardial Jagged1 or endocardial Notch1. Myocardial Mib1 mutants show reduced ventricular Notch1 activity, expansion of compact myocardium to proliferative, immature trabeculae and abnormal expression of cardiac development and disease genes. These results implicate NOTCH signaling in LVNC and indicate that MIB1 mutations arrest chamber myocardium development, preventing trabecular maturation and compaction.
- Hospital Universitario Puerta de Hierro Majadahonda Spain
- Seoul National University Korea (Republic of)
- Hospital Clínico San Carlos Spain
- Hospital Universitario Virgen de la Arrixaca Spain
- Services Hospital Pakistan
Male, 570, Heart Ventricles, Ubiquitin-Protein Ligases, Enfermedad cardiovascular, Molecular Sequence Data, 610, Genética humana, Mice, Animals, Humans, Amino Acid Sequence, Zebrafish, Receptors, Notch, Heart, HEK293 Cells, Mutation, Female, Protein Multimerization, Cardiomyopathies, Signal Transduction
Male, 570, Heart Ventricles, Ubiquitin-Protein Ligases, Enfermedad cardiovascular, Molecular Sequence Data, 610, Genética humana, Mice, Animals, Humans, Amino Acid Sequence, Zebrafish, Receptors, Notch, Heart, HEK293 Cells, Mutation, Female, Protein Multimerization, Cardiomyopathies, Signal Transduction
78 Research products, page 1 of 8
- 2018IsRelatedTo
- 2017IsRelatedTo
- 2017IsRelatedTo
- 2017IsRelatedTo
- 2017IsRelatedTo
- 2017IsRelatedTo
- 2018IsRelatedTo
- 2017IsRelatedTo
- 2017IsRelatedTo
chevron_left - 1
- 2
- 3
- 4
- 5
chevron_right
citations This is an alternative to the "Influence" indicator, which also reflects the overall/total impact of an article in the research community at large, based on the underlying citation network (diachronically).330 popularity This indicator reflects the "current" impact/attention (the "hype") of an article in the research community at large, based on the underlying citation network.Top 1% influence This indicator reflects the overall/total impact of an article in the research community at large, based on the underlying citation network (diachronically).Top 1% impulse This indicator reflects the initial momentum of an article directly after its publication, based on the underlying citation network.Top 1%
