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Characterization of the molecular dysfunctions occurring in Aicardi-Goutieres syndrome patients with mutations in ADAR1

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Genes & Diseases 2024年第3期11卷 116-119页

作者： Sofan Al wardat Loredana Frasinlli Elisa Orecchini Federica Rey Silvia Anna Ciafre Silvia Galardi jessica garau Stella Gagliardi Simona Orcesi Davide Tonduti Stephana Carelli Cristina Cereda Ernesto Picardi Alessandro Michienzi Department of Biomedicine and Prevention University of Rome Tor VergataRome 00133Italy Pediatric Clinical Research Center"Romeo ed Enrica Invernizzi" Department of Biomedical and Clinical SciencesUniversity of MilanoMilano 20157Italy Center of Functional Genomics and Rare Diseases Department of PediatricsBuzzi Children's HospitalMilano20154Italy Department of Child Neurology and Psychiatry IRccs Mondino FoundationPavia 27100Italy Unit of Pediatric Neurology C.O.A.L.A(Center for Diagnosis and Treatment of Leukodystrophies)Buzzi Children's HospitalMilano 20154Italy Department of Biosciences Biotechnologies and EnvironmentUniversityof Bari"AldoMoro"Bari 70125Italy Institute of Biomembranes Bioenergetics and Molecular Biotechnologies(IBIOM)National Research Council(CNR)Bari 70126Italy Biostructures and Biosystems National Institute(INBB) Rome00136Italy Institute of Biochemistry and Cell Biology IBBC-CNRCampus Adriano Buzzati TraversoRome 00015Italy

Aicardi-Goutieres syndrome(AGS)is a systemic inflammatory disorder caused by mutations in any one of the nine different genes,whose deficiency provokes a type I(interferon)IFN response probably central to pathogenesis.^(1) ADAR1,one of the genes mutated in AGS(AGS6),encodes for an enzyme that belongs to the ADAR family(ADAR1,ADAR2,and ADAR3)that catalyzes the conversion of adenosine to inosine within double-stranded RNAs(dsRNAs)(RNA editing A-to-1).

关键词： ADAR1 interferon res

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Hydroxychloroquine modulates immunological pathways activated by RNA:DNA hybrids in Aicardi–Goutières syndrome patients carrying RNASEH2 mutations

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Cellular & Molecular Immunology 2021年第6期18卷 1593-1595页

作者： jessica garau Daisy Sproviero Francesca Dragoni Elisa Piscianz Carolina Santonicola Davide Tonduti Stephana Carelli Alessandra Tesser Gian Vincenzo Zuccotti Alberto Tommasini Simona Orcesi Orietta Pansarasa Cristina Cereda Genomic and post-Genomic Unit IRCCS Mondino FoundationPaviaItaly Department of Biology and Biotechnology“L.Spallanzani” University of PaviaPaviaItaly Department of Medicine Surgery and Health SciencesUniversity of TriesteTriesteItaly Child Neurology Unit-COALA(Center for diagnosis and treatment of leukodystrophies)-Children’s Hospital“V.Buzzi” MilanItaly Department of Biomedical and Clinical Sciences“L.Sacco” University of MilanMilanItaly Pediatric Clinical Research Center Fondazione Romeo ed Enrica Invernizzi University of MilanMilanItaly Department of Pediatrics Institute for Maternal and Child Health“IRCCS Burlo Garofolo”TriesteItaly Department of Pediatrics Children’s Hospital“V.Buzzi”MilanItaly Unit of Child Neurology and Psychiatry IRCCS Mondino FoundationPaviaItaly Department of Brain and Behavioral Sciences University of PaviaPaviaItaly

Aicardi–Goutières syndrome(AGS)is a rare genetic disease caused by mutations in nine genes that are all involved in nucleic acid metabolism or sensing.1,2 The three RNASEH2 subunits represent the most frequently mutated genes in AGS patients,1,3 and mutations in RNASEH2 subunits lead to the accumulation of endogenous RNA:DNA hybrids that may trigger an interferon-α-mediated immune response4 through the activation of pattern recognition receptors(PRRs).5 PRRs perform surveillance on extracellular,endosomal,and cytosolic compartments to identify signs of infection:endogenous nucleic acids that are inappropriately cleared may enter and accumulate in the cytoplasm,driving inflammation and autoimmune diseases.6 This accumulation may be the cause of the clinical autoimmune phenotype of AGS patients carrying RNASEH2 mutations.A proven effective cure for AGS has not been discovered,and targeting these two pathways may lead to a treatment that improves patients’immunological ***(HCQ)interferes with normal antigen processing and presentation and is widely used in the clinical treatment of autoimmune diseases such as systemic lupus erythematosus and rheumatoid arthritis.7 HCQ is also a well-known inhibitor of autophagy that prevents the degradation of *** drug inhibits acidification and maturation of endosomes and increases the pH in lysosomes,resulting in the inhibition of their main functions,such as downstream cell signaling through TLRs.7 Therefore,the aim of our work was to investigate whether HCQ is able to modulate the abnormal inflammatory response driven by RNA:DNA hybrids.

关键词： patients endogenous metabolism

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