Nuclear smooth muscle α-actin participates in vascular ... - Nature
2023年9月28日 · Missense variants throughout ACTA2, encoding α-smooth muscle actin (αSMA), predispose to adult-onset thoracic aortic disease, but variants disrupting arginine 179 (R179) lead to smooth muscle...
Loss of Smooth Muscle α-Actin Leads to NF-κB–Dependent …
2017年5月1日 · This study was initiated to investigate the mechanism of thoracic aortic aneurysm formation associated with mutations in ACTA2, the gene encoding the smooth muscle isoform of α-actin. We show that Acta2−/− mice have aortic root dilatation, which is attenuated by treatment with an AngII type 1 receptor blocker (losartan).
Cardiac manifestations of human ACTA2 variants recapitulated in …
2024年2月5日 · Missense variants in the ACTA2 gene can cause inherited thoracic aortic diseases with characteristic symptoms, such as dysfunction of smooth muscle cells in the lungs, brain vessels, intestines...
Expanding ACTA2 Genotypes with Corresponding Phenotypes …
Pathogenic variants in ACTA2, which encodes the smooth muscle (SM)-specific α-actin monomer (SM α-actin), are the most frequent cause of non-syndromic heritable thoracic aortic aneurysms and dissections (Guo et al., 2007; Guo et al., 2009; Morisaki et al., 2009).
α-Smooth Muscle Actin and ACTA2 Gene Expressions in …
α-smooth muscle actin, encoded by ACTA2 gene, is an isoform of the vascular smooth muscle actins, typically expressed in the vascular smooth muscle cells contributing to vascular motility and contraction. ACTA2 gene mutations cause a diversity of diffuse vasculopathies such as thoracic aortic aneurysms and dissections as well as occlusive ...
An Update on Reported Variants in the Skeletal Muscle
The ACTA1 gene encodes skeletal muscle alpha-actin, which forms the core of the sarcomeric thin filament in adult skeletal muscle. ACTA1 represents one of six highly conserved actin proteins that have all been associated with human disease.
Human skeletal muscle aging atlas - Nature
2024年4月15日 · Skeletal muscle aging is a key contributor to age-related frailty and sarcopenia with substantial implications for global health. Here we profiled 90,902 single cells and 92,259 single nuclei...
Molecular mechanisms linking missense ACTG2 mutations to …
2024年5月31日 · Mutations in smooth muscle γ-actin (ACTG2) are the most common cause of the disease, but the mechanisms by which the mutations alter muscle function are unknown. Here, we examined four prevalent ACTG2 mutations (R40C, R148C, R178C, and R257C) that cause different disease severity and are spread throughout the actin fold.
De Novo ACTA2 Mutation Causes a Novel Syndrome of …
We report here on a unique and de novo mutation in ACTA2, R179H, that causes a syndrome characterized by dysfunction of SMCs throughout the body, leading to aortic and cerebrovascular disease, fixed dilated pupils, hypotonic bladder, malrotation and hypoperistalsis of the gut and pulmonary hypertension.
Single‐Cell RNA‐Sequencing Provides Insight into Skeletal Muscle ...
2023年10月23日 · In this study, we selected the longissimus dorsi muscle to explore the shift in skeletal muscle‐resident cell profile underlying distinct muscle phenotypes resulting from domestication and artificial selection by employing scRNA‐seq analysis (scRNA‐seq).