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this study characterized the ALK2 mutants R258G, G328V and F246Y, which were identified in patients with severe fibrodysplasia ossificans progressiva, diffuse intrinsic pontine glioma and unusual hereditary skeletal dysplasia, respectively.
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Identification of small molecule inhibitors of ALK2: a virtual screening, density functional theory, and molecular dynamics simulations study.
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Results showed that ACVR1 was a direct target of miR-384 and was involved in the inhibitory effects of miR-384 on breast cancer progression. Furthermore, the study indicated that ACVR1 activated the Wnt/beta-catenin signaling pathway in breast cancer.
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Study emphasizes about the role of ACVR1 which encoding a receptor for BMP proteins in fibrodysplasia ossificans progressiva (FOP). Most FOP patients carry the recurrent R206H substitution in the GS domain, whereas a few other mutations are responsible for limited cases. Mutations cause a dysregulation of the downstream BMP-dependent pathway making mutated ACVR1 responsive to a non-canonical ligand, Activin A. [review]
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The role of an ALK2 mutation (R258S) in IRIDA development in a patient also bearing compound heterozygous mutations in TMPRSS6 was demonstrated by reconstructing in vitro the proband's genotype, expressing mutants TMPRSS6 and ACVR1 in the presence of hemojuvelin and assessing hepcidin activation. ALK2(R258S) maintained high hepcidin expression in the presence of MT2(I212T).
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activation of AMPK upregulated Smad6 and Smurf1 and thereby enhanced their interactions, resulting in its proteosome-dependent degradation of ALK2.
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the Fibrodysplasia Ossificans Progressiva mutation ACVR1(R206H) is more sensitive to a number of natural ligands.
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both bone morphogenetic protein 2 (BMP2) and BMP6 are proangiogenic in vitro and ex vivo and that the BMP type I receptors, activin receptor-like kinase 3 (ALK3) and ALK2, play crucial and distinct roles in this process.
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Fibrodysplasia ossificans progressiva (FOP) syndrome is caused by mutation of the gene ACVR1. Developed is a simplified one-step procedure by simultaneously introducing reprogramming and gene-editing components into human fibroblasts derived from patient with FOP. The one-step-mediated ALK2 gene-corrected induced pluripotent stem cells restored global gene expression pattern.
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The ACVR1 R206H mutation may not directly increase the formation of mature chondrogenic or osteogenic cells.
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Authors demonstrated that the BMP type I receptor ALK-2 (encoded by the ACVR1 gene) has crucial roles in apoptosis induction of patient-derived glioma-initiating cells (GICs), TGS-01 and TGS-04.
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Data suggest BMP9/GDF2 and BMP10 synergize with TNFA to increase monocyte recruitment to vascular endothelial cells; process appears to be mediated mainly via ALK2/ACVR1 (which exhibits protein kinase activity). These studies used in vitro flow monocyte adhesion assay. (BMP9 = growth differentiation factor 2; BMP10 = bone morphogenetic protein 10; TNFA = tumor necrosis factor alpha; ALK2/ACVR1 = activin A receptor type 1)
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The effects of ACVR1/ALK2 mutations causing fibrodysplasia ossificans progressiva are extended to the central nervous system. Brainstem hamartomatous lesions and dysmorphisms, variably associated with dentate nucleus and basal ganglia signal abnormalities and/or calcifications, may represent useful disease hallmarks.
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Low ALK2 expression is associated with invasiveness of breast cancer.
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Further investigation on clinical ESCC samples and non-tumorous adjacent tissue found that tumors with triple-positive BMP6, ALK2 and BMPRII had deeper growth than tumors with only BMP6 expression
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The clinical manifestations, the disease course, and the molecular findings of involvement of ACVR1 gene in this family are suggestive of "FOP variant" or an unusual ACVR1-related skeletal dysplasia
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Activin-A is increased in the airway of asthmatics and peaks during asthma exacerbations.Activin-A signalling pathways are dysregulated in severe asthma.
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Common mutations in ALK2/ACVR1, a multi-faceted receptor, have roles in distinct pediatric musculoskeletal and neural orphan disorders.
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The higher PE activin A concentrations resulted in abnormal endothelial functions, which may contribute to the systemic maternal vascular endothelial cell dysfunction observed in the disorder.
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A report of two patients has been presented with multi-system involvement in a severe variant of fibrodysplasia ossificans progressiva caused by the ACVR1 c.772G>A; R258G mutation.
