This report describes fly models relevant to cardiomyopathies that are VCL-related. The human gene implicated in these diseases (VCL) encodes vinculin, a cytoskeletal protein associated with cell-cell and cell-matrix junctions. VCL is implicated in several forms of heart disease (see MIM:193065), including dilated cardiomyopathy 1W (MIM:611407; FBhh0000888) and familial hypertrophic cardiomyopathy 15 (MIM:613255; FBhh0000889). There is a single orthologous gene in Drosophila, Dmel\Vinc, for which an amorphic allele, RNAi targeting constructs, and an allele caused by insertional mutagenesis have been generated.
The human VCL gene has not been introduced into flies.
Age-associated cardiac remodeling is observed in Drosophila, including diastolic restriction and cortical stiffening. UAS-driven cardiac-restricted overexpression of Vinc results in cytoskeletal remodeling in the myocardium; improved heart function in aged animals is observed; median life span is significantly increased. Physical and genetic interactions have been described for Dmel\Vinc; see below and in the Vinc gene report.
[updated Sep. 2018 by FlyBase; FBrf0222196]
VCL encodes vinculin, a cytoskeletal protein associated with cell-cell and cell-matrix junctions, where it is thought to function as one of several interacting proteins involved in anchoring F-actin to the membrane. [Gene Cards, VCL; 2018.09.12]
Vinculin is a cytoskeletal protein associated with the cytoplasmic face of both cell-cell and cell-extracellular matrix adherens-type junctions, where it is thought to function as one of several interacting proteins involved in anchoring F-actin to the membrane (Weller et al., 1990; pubmed:2116004). [from MIM:193065; 2018.09.12]
One to one: 1 human to 1 Drosophila.
Moderate- to high-scoring ortholog of human VCL (1 Drosophila to 1 human). Dmel\Vinc shares 41% identity and 56% similarity with the human gene.
