更新于：2024-11-01

ANO5

更新于：2024-11-01

基本信息

别名

ANO5、anoctamin 5、Anoctamin-5

+ [5]

简介

Does not exhibit calcium-activated chloride channel (CaCC) activity.

关联

项与 ANO5 相关的药物

MYO-301

靶点

ANO5

作用机制

ANO5刺激剂

在研机构

Myonexus Therapeutics, Inc.初创企业

原研机构

Nationwide Children's Hospital

在研适应症

肢带型肌营养不良

非在研适应症-

最高研发阶段临床前

首次获批国家/地区-

首次获批日期1800-01-20

100 项与 ANO5 相关的临床结果

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100 项与 ANO5 相关的转化医学

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0 项与 ANO5 相关的专利（医药）

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182

项与 ANO5 相关的文献（医药）

2024-10-01·Experimental Gerontology

Identification of potential drug targets for amyotrophic lateral sclerosis by Mendelian randomization analysis based on brain and plasma proteomics

Article

作者: Xu, Pengfei ; Qi, Xianghua ; Yang, Ni ; Ren, Fang ; Shi, Liangyuan ; Li, Chunlin

Amyotrophic lateral sclerosis as a fatal neurodegenerative disease currently lacks effective therapeutic agents. Thus, finding new therapeutic targets to drive disease treatment is necessary. In this study, we utilized brain and plasma proteins as genetic instruments obtained from genome-wide association studies to conduct a Mendelian randomization analysis to identify potential drug targets for amyotrophic lateral sclerosis. Additionally, we validated our results externally using other datasets. We also used Bayesian co-localization analysis and phenotype scanning. Furthermore, we constructed a protein-protein interaction network to elucidate potential correlations between the identified proteins and existing targets. Mendelian randomization analysis indicated that elevated levels of ANO5 (OR = 1.30; 95 % CI, 1.14-1.49; P = 1.52E-04), SCFD1 (OR = 3.82; 95 % CI, 2.39-6.10; P = 2.19E-08), and SIGLEC9 (OR = 1.05; 95% CI, 1.03-1.07; P = 4.71E-05) are associated with an increased risk of amyotrophic lateral sclerosis, with external validation supporting these findings. Co-localization analysis confirmed that ANO5, SCFD1, and SIGLEC9 (coloc.abf-PPH4 = 0.848, 0.984, and 0.945, respectively) shared the same variant with amyotrophic lateral sclerosis, further substantiating potential role of these proteins as a therapeutic target. There are interactive relationships between the potential proteins and existing targets of amyotrophic lateral sclerosis. Our findings suggested that elevated levels of ANO5, SCFD1, and SIGLEC9 are connected with an increased risk of amyotrophic lateral sclerosis and might be promising therapeutic targets. However, further exploration is necessary to fully understand the underlying mechanisms involved.

2024-04-01·Oral Diseases

Genetic disruption of Ano5 leads to impaired osteoclastogenesis for gnathodiaphyseal dysplasia

Article

作者: Tian, Zhenchuan ; Li, Hongyu ; Liu, Xiu ; Ma, Xinrong ; Miao, Congcong ; Hu, Ying ; Wang, Xiaoyu

AbstractObjectivesGnathodiaphyseal dysplasia (GDD; OMIM#166260) is a rare skeletal genetic disorder characterized by sclerosis of tubular bones and cemento‐osseous lesions in mandibles. TMEM16E/ANO5 gene mutations have been identified in patients with GDD. Here, Ano5 knockout (Ano5−/−) mice with enhanced osteoblastogenesis were used to investigate whether Ano5 disruption affects osteoclastogenesis.Subjects and MethodsThe maturation of osteoclasts, formation of F‐actin ring and bone resorption were detected by immunohistochemistry, TRAP, phalloidin staining and Coming Osteo assays. The expression of osteoclast‐related factors was measured by qRT‐PCR. Early signaling pathways were verified by western blot.ResultsAno5−/− mice exhibited inhibitory formation of multinucleated osteoclasts with a reduction of TRAP activity. The expression of Nfatc1, c‐Fos, Trap, Ctsk, Mmp9, Rank and Dc‐stamp was significantly decreased in bone tissues and bone marrow‐derived macrophages (BMMs) of Ano5−/− mice. Ano5−/− osteoclasts manifested disrupted actin ring and less mineral resorption. RANKL‐induced early signaling pathways were suppressed in Ano5−/− osteoclasts and Ano5 knockdown RAW264.7 cells. Moreover, the inhibitory effects of NF‐κB signalling pathway on osteoclastogenesis were partially attenuated with NF‐κB signalling activator.ConclusionsAno5 deficiency impairs osteoclastogenesis, which leads to enhanced osteogenic phenotypes mediated by bone homeostasis dysregulation.

2024-01-01·Revista de Neurología

Caracterización clínica y genética de miopatías distales hereditarias en una serie de pacientes colombianos

Article

作者: Oliveros-Acuña, N ; Rojas-García, W ; Correa-Arrieta, C ; Ortiz-Corredor, F ; Castellar-Leones, S ; Tafur-Gómez, N

INTRODUCTIONHereditary distal myopathies represent a heterogeneous group of rare genetic disorders characterized by progressive distal muscle weakness.AIMThe objective of this study was to describe the clinical spectrum and genetic findings in a series of patients with distal myopathy from Colombia.PATIENTS AND METHODSA retrospective review of the medical records of 12 patients with distal myopathy seen at a neuromuscular center in Bogota, Colombia, between 2015 and 2023 was performed. Clinical data, family history, diagnostic studies and genetic test results were obtained.RESULTSThe mean age of onset was 15.7 years. Patterns of limb weakness included distal involvement in the upper and lower extremities (50%), distal involvement in the lower extremities in isolation (33.3%), and proximal and distal involvement in the upper and lower extremities (8.3%). Additional weakness was observed in the face (8.3%) and paraspinal muscles (25.0%). Creatine kinase levels were elevated in 58.3% of cases. Electromyography revealed a myopathic pattern in 91.6% of cases. Variants identified included MYH7, ANO5, TTN, HNRNPA1, DES, DYSF and CAV3 genes.CONCLUSIONThis case series describes the clinical and genetic spectrum of inherited distal myopathies in Colombia. Findings demonstrate phenotypic and genotypic heterogeneity, with variants in genes encoding structural proteins. There is a need to expand access to genetic testing in Latin America to enable more accurate comprehensive diagnosis and treatment.