Gene/Protein Disease Symptom Drug Enzyme Compound
Pivot Concepts:   Target Concepts:
Query: UMLS:C0018799 (heart disease)
 34,133 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

The influence of genetics in acquired adult heart disease remains incompletely defined. Genetic manipulation in mice has been widely used in combination with physiologic modeling to address this deficiency and has provided insights into the pathophysiology of myocardial signaling. However, conventional techniques of directed gene expression or ablation confound adult heart phenotypes with genetic perturbation of embryonic or postnatal cardiac development. Here, studies of Galphaq and Nix, powerful signaling factors for pathologic hypertrophy and cardiomyocyte apoptosis, respectively, are reviewed in terms of their comparative effects on cardiac development and adult cardiac pathology.
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PMID:Physiologic growth and pathologic genes in cardiac development and cardiomyopathy. 1616 15

BNIP3 and NIX are proteins related to the BH3-only family, which induce both cell death and autophagy. Consistent with their ability to induce cell death, BNIP3 and NIX are implicated in the pathogenesis of cancer and heart disease. In tumor cells, BNIP3 and NIX are regulated by hypoxia, and the deregulation of BNIP3 or NIX expression is associated with tumor growth. In heart muscle, BNIP3 and NIX are regulated by hypoxia and Galphaq-dependent signaling, respectively, and their expression is associated with decreased myocardial function. Apart from their role in cell death, BNIP3 and NIX are also implicated in the induction of autophagy. In erythroid cells, NIX is required for a specialized type of autophagy that targets mitochondria for elimination (mitophagy). Similarly, BNIP3 regulates mitophagy in response to hypoxia. In this review, we will discuss possible mechanisms by which BNIP3 and NIX induce cell death and mitophagy. We will also consider the potential relationship between cell death pathways and autophagy in development and homeostasis.
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PMID:Role of BNIP3 and NIX in cell death, autophagy, and mitophagy. 1922 44