Cilia and Ciliopathies in Congenital Heart Disease
| Autor: | Nikolai Klena, Brian C. Gibbs, Cecilia W. Lo |
|---|---|
| Rok vydání: | 2017 |
| Předmět: |
0301 basic medicine
Heart Defects Congenital Cell signaling Heart disease Cilium Mutagenesis (molecular biology technique) Biology medicine.disease Ciliopathies General Biochemistry Genetics and Molecular Biology Cell biology Pathogenesis 03 medical and health sciences Ciliopathy 030104 developmental biology PERSPECTIVES Ciliogenesis medicine Animals Humans Cilia |
| Zdroj: | Cold Spring Harbor perspectives in biology. 9(8) |
| ISSN: | 1943-0264 |
| Popis: | A central role for cilia in congenital heart disease (CHD) was recently identified in a large-scale mouse mutagenesis screen. Although the screen was phenotype-driven, the majority of genes recovered were cilia-related, suggesting that cilia play a central role in CHD pathogenesis. This partly reflects the role of cilia as a hub for cell signaling pathways regulating cardiovascular development. Consistent with this, many cilia-transduced cell signaling genes were also recovered, and genes regulating vesicular trafficking, a pathway essential for ciliogenesis and cell signaling. Interestingly, among CHD-cilia genes recovered, some regulate left-right patterning, indicating cardiac left-right asymmetry disturbance may play significant roles in CHD pathogenesis. Clinically, CHD patients show a high prevalence of ciliary dysfunction and show enrichment for de novo mutations in cilia-related pathways. Combined with the mouse findings, this would suggest CHD may be a new class of ciliopathy. |
| Databáze: | OpenAIRE |
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