Actc1-KO Mouse

Actc1, or actin, alpha, cardiac muscle 1, encodes a highly conserved actin that binds to myosin in cardiac and skeletal muscle. It is involved in the contraction of the sarcomere, a fundamental process in muscle function [1,4].

Pathogenic variants in Actc1 have been associated with multiple diseases. In five families, heterozygous missense variants in Actc1 were found to underlie distal arthrogryposis (DA) accompanied by congenital heart defects, suggesting shared functions of Actc1 in cardiac and skeletal muscle [1,4]. Actc1 variants have also been previously linked to atrial septal defect, dilated cardiomyopathy, hypertrophic cardiomyopathy, and left ventricular noncompaction [1,4]. In glioma, higher ACTC1 expression was related to WHO grade, worse overall survival, and increased invasion and recurrence in glioblastoma patients, indicating its potential as a prognostic and invasion marker [2]. In epithelial ovarian cancer, co-overexpression of GRK5/ACTC1 was associated with poor prognosis [3]. A child with an Actc1 gene mutation presented with Prinzmetal angina, left ventricular non-compaction, and decreased systolic function [5].

In conclusion, Actc1 is crucial for muscle contraction in both cardiac and skeletal muscle. Research on Actc1 has revealed its significant associations with various muscle-related and other diseases, such as DA with congenital heart defects, glioma, epithelial ovarian cancer, and Prinzmetal angina. Understanding Actc1's functions through these disease associations can potentially provide insights into disease mechanisms and treatment strategies.