ANO5-related muscle diseases:From clinics and genetics to pathology and research strategies

作     者：Jon Christiansen Anne-Katrin Guttsches Ulrike Schara-Schmidt Matthias Vorgerd Christoph Heute Corinna Preusse Werner Stenzel Andreas Roos 

作者机构：Department of Pediatric NeurologyCentre for Neuromuscular DisordersCentre for Translational Neuro-and Behavioral SciencesUniversity Hospital EssenUniversity Duisburg-Essen45147 EssenGermany Department of NeurologyHeimer Institute for Muscle ResearchUniversity Hospital BergmannsheilRuhr University Bochum44789 BochumGermany Department of Adult and Pediatric DiagnosticInterventional RadiologyNuclear MedicineBG University Hospital Bergmannsheil Bochum44789 BochumGermany Charite´e Universitatsmedizin BerlinFreie Universitat Berlin10117 BerlinGermany Humboldt-Universitat zu BerlinDepartment of Neuropathology10117 BerlinGermany Department of Neurology with Institute for Translational NeurologyUniversity Hospital MunsterAlbert-Schweitzer-Campus 148149 MunsterGermany Children’s Hospital of Eastern Ontario Research InstituteUniversity of OttawaOttawaON K1H 8L1Canada 

出 版 物：《Genes & Diseases》 (基因与疾病（英文）)

年 卷 期：2022年第9卷第6期

页      面：1506-1520页

核心收录：

学科分类：0710[理学-生物学] 07[理学] 071007[理学-遗传学] 

基　　金：Parts of the study were funded by The European Regional Development Fund(ERDF No.NME-GPS) JC received funding from the University of Duisburg-Essen(ELAN-promotion programme) Germany.AR received funding from the French Muscular Dystrophy Association,France(AFMTe´le´thon No.21466) 

主　　题：Anoctamin-5 LGMDR12 MMD3 Muscle inflammation Muscle MRI 

摘      要：Anoctamin-5(ANO5)is a multi-pass membrane protein localized to the sarcolemma and the sarcoplasmic *** were linked to rare autosomal recessive muscle ***,we summarize the clinical spectrum,imaging data and molecular research findings as well as results of animal modeling,which significantly moved forward the understanding of mechanisms underlying ANO5-related muscle *** that precise histological information on inflammatory processes taking place in patient-derived muscle are still lacking,an(immuno)histological study on biopsies derived from six ANO5-patients was performed showing focal accumulation of necrotic fibers,mild fiber-size variances and *** addition,MRI data of four ANO5-patients(including a 10-year follow-up in one patient)are presented and discussed in the context of previously published ***,data presented in this article combining a review of the literature with own myopathological findings address scientific trends and open questions on ANO5-related muscle diseases,which would be of significant interest for a wide neuromuscular diseases *** conclude,a clear genotypeephenotype correlation does not exist,and ANO5-related muscle disorders might represent the next entity of a clinical continuum with varying degree of muscle cell *** addition,results of pre-clinical studies allowed the definition of suitable cell and animal models characterized by certain histological and functional pathologies resembling the human *** models might serve as suitable systems for testing of interventional concepts in future.