{"PubmedArticle":{"MedlineCitation":{"@attributes":{"Status":"MEDLINE","Owner":"NLM","IndexingMethod":"Automated"},"PMID":{"@attributes":{"Version":"1"},"@text":"40400011"},"DateCompleted":{"Year":"2025","Month":"05","Day":"22"},"DateRevised":{"Year":"2025","Month":"06","Day":"27"},"Article":{"@attributes":{"PubModel":"Electronic"},"Journal":{"ISSN":{"@attributes":{"IssnType":"Electronic"},"@text":"2051-5960"},"JournalIssue":{"@attributes":{"CitedMedium":"Internet"},"Volume":"13","Issue":"1","PubDate":{"Year":"2025","Month":"May","Day":"21"}},"Title":"Acta neuropathologica communications","ISOAbbreviation":"Acta Neuropathol Commun"},"ArticleTitle":"A comprehensive spatiotemporal map of dystrophin isoform expression in the developing and adult human brain.","Pagination":{"StartPage":"110","MedlinePgn":"110"},"ELocationID":[{"@attributes":{"EIdType":"pii","ValidYN":"Y"},"@text":"110"},{"@attributes":{"EIdType":"doi","ValidYN":"Y"},"@text":"10.1186\/s40478-025-01996-z"}],"Abstract":{"AbstractText":["Mutations in the dystrophin gene (DMD) cause the severe muscle-wasting disease Duchenne muscular dystrophy (DMD). Additionally, there is a high incidence of intellectual disability and neurobehavioural comorbidities in individuals with DMD. Similar behavioural abnormalities are found in mdx dystrophic mouse models. Unlike muscle, several dystrophin isoforms are expressed in the human brain, but a detailed map of regional and cellular localisation of dystrophin isoforms is missing. This is crucial in understanding the neuropathology of DMD individuals, and for evaluating the translatability of pre-clinical findings in DMD mouse models receiving genetic therapy interventions. Here, we provide a comprehensive dystrophin expression profile in human brains from early development to adulthood. We reveal expression of dp427p2, dp427c, dp427m and dp40 isoforms in human embryonic brains, not previously reported. We also detected dp427p2 expression and developmental regulation in human brain across the lifespan. In addition we showed by in situ hybridisation that dp140 was greatly downregulated in adult brains. Importantly, our data also demonstrate expression of DMD transcripts in human motor neurons and co-expression of different dystrophin isoforms within single neurons in both developing and adult brains. Finally, we show localisation of DMD transcripts with GAD1+\u2009GABAergic-associated transcripts in neurons including cerebellar Purkinje cells and interneurons, as well as in the majority of neocortical and hippocampal SLC17A7+\u2009glutamatergic neurons, suggesting a role for dystrophin in signalling at the neuronal inhibitory and excitatory synapses."],"CopyrightInformation":"\u00a9 2025. The Author(s)."},"AuthorList":{"@attributes":{"CompleteYN":"Y"},"Author":[{"@attributes":{"ValidYN":"Y"},"LastName":"Catapano","ForeName":"Francesco","Initials":"F","AffiliationInfo":[{"Affiliation":"The Dubowitz Neuromuscular Centre, Developmental Neurosciences Programme, Great Ormond Street Institute of Child Health, University College London, 30 Guilford Street, London, WC1N 1EH, UK."},{"Affiliation":"National Institute for Health Research, Great Ormond Street Institute of Child Health Biomedical Research Centre, University College London, London, UK."},{"Affiliation":"Dubowitz Neuromuscular Centre, Division of Neuropathology, UCL Queen Square Institute of Neurology, Queen Square, London, UK."}]},{"@attributes":{"ValidYN":"Y"},"LastName":"Alkharji","ForeName":"Reem","Initials":"R","AffiliationInfo":[{"Affiliation":"Developmental Biology and Cancer Department, UCL Great Ormond Street Institute of Child Health, London, WC1N 1EH, UK."},{"Affiliation":"Research Department, Natural and Health Science Research Centre, Princess Nourah Bint Abdulrahman University, Riyadh, Saudi Arabia."}]},{"@attributes":{"ValidYN":"Y"},"LastName":"Chambers","ForeName":"Darren","Initials":"D","AffiliationInfo":[{"Affiliation":"The Dubowitz Neuromuscular Centre, Developmental Neurosciences Programme, Great Ormond Street Institute of Child Health, University College London, 30 Guilford Street, London, WC1N 1EH, UK."},{"Affiliation":"National Institute for Health Research, Great Ormond Street Institute of Child Health Biomedical Research Centre, University College London, London, UK."},{"Affiliation":"Dubowitz Neuromuscular Centre, Division of Neuropathology, UCL Queen Square Institute of Neurology, Queen Square, London, UK."}]},{"@attributes":{"ValidYN":"Y"},"LastName":"Singh","ForeName":"Simran","Initials":"S","AffiliationInfo":[{"Affiliation":"The Dubowitz Neuromuscular Centre, Developmental Neurosciences Programme, Great Ormond Street Institute of Child Health, University College London, 30 Guilford Street, London, WC1N 1EH, UK."},{"Affiliation":"National Institute for Health Research, Great Ormond Street Institute of Child Health Biomedical Research Centre, University College London, London, UK."},{"Affiliation":"Dubowitz Neuromuscular Centre, Division of Neuropathology, UCL Queen Square Institute of Neurology, Queen Square, London, UK."}]},{"@attributes":{"ValidYN":"Y"},"LastName":"Aghaeipour","ForeName":"Artadokht","Initials":"A","AffiliationInfo":[{"Affiliation":"The Dubowitz Neuromuscular Centre, Developmental Neurosciences Programme, Great Ormond Street Institute of Child Health, University College London, 30 Guilford Street, London, WC1N 1EH, UK."},{"Affiliation":"National Institute for Health Research, Great Ormond Street Institute of Child Health Biomedical Research Centre, University College London, London, UK."}]},{"@attributes":{"ValidYN":"Y"},"LastName":"Malhotra","ForeName":"Jyoti","Initials":"J","AffiliationInfo":[{"Affiliation":"Sarepta Therapeutics Lnc., Cambridge, MA, USA."}]},{"@attributes":{"ValidYN":"Y"},"LastName":"Ferretti","ForeName":"Patrizia","Initials":"P","AffiliationInfo":[{"Affiliation":"Developmental Biology and Cancer Department, UCL Great Ormond Street Institute of Child Health, London, WC1N 1EH, UK."}]},{"@attributes":{"ValidYN":"Y"},"LastName":"Phadke","ForeName":"Rahul","Initials":"R","AffiliationInfo":[{"Affiliation":"The Dubowitz Neuromuscular Centre, Developmental Neurosciences Programme, Great Ormond Street Institute of Child Health, University College London, 30 Guilford Street, London, WC1N 1EH, UK."},{"Affiliation":"National Institute for Health Research, Great Ormond Street Institute of Child Health Biomedical Research Centre, University College London, London, UK."},{"Affiliation":"Dubowitz Neuromuscular Centre, Division of Neuropathology, UCL Queen Square Institute of Neurology, Queen Square, London, UK."}]},{"@attributes":{"ValidYN":"Y"},"LastName":"Muntoni","ForeName":"Francesco","Initials":"F","AffiliationInfo":[{"Affiliation":"The Dubowitz Neuromuscular Centre, Developmental Neurosciences Programme, Great Ormond Street Institute of Child Health, University College London, 30 Guilford Street, London, WC1N 1EH, UK. f.muntoni@ucl.ac.uk."},{"Affiliation":"National Institute for Health Research, Great Ormond Street Institute of Child Health Biomedical Research Centre, University College London, London, UK. f.muntoni@ucl.ac.uk."}]}]},"Language":["eng"],"PublicationTypeList":{"PublicationType":[{"@attributes":{"UI":"D016428"},"@text":"Journal Article"},{"@attributes":{"UI":"D013485"},"@text":"Research Support, Non-U.S. Gov't"}]},"ArticleDate":[{"@attributes":{"DateType":"Electronic"},"Year":"2025","Month":"05","Day":"21"}]},"MedlineJournalInfo":{"Country":"England","MedlineTA":"Acta Neuropathol Commun","NlmUniqueID":"101610673","ISSNLinking":"2051-5960"},"ChemicalList":{"Chemical":[{"RegistryNumber":"0","NameOfSubstance":{"@attributes":{"UI":"D016189"},"@text":"Dystrophin"}},{"RegistryNumber":"0","NameOfSubstance":{"@attributes":{"UI":"D020033"},"@text":"Protein Isoforms"}},{"RegistryNumber":"EC 4.1.1.15","NameOfSubstance":{"@attributes":{"UI":"D005968"},"@text":"Glutamate Decarboxylase"}}]},"CitationSubset":["IM"],"MeshHeadingList":{"MeshHeading":[{"DescriptorName":{"@attributes":{"UI":"D006801","MajorTopicYN":"N"},"@text":"Humans"}},{"DescriptorName":{"@attributes":{"UI":"D016189","MajorTopicYN":"Y"},"@text":"Dystrophin"},"QualifierName":[{"@attributes":{"UI":"Q000378","MajorTopicYN":"N"},"@text":"metabolism"},{"@attributes":{"UI":"Q000235","MajorTopicYN":"N"},"@text":"genetics"}]},{"DescriptorName":{"@attributes":{"UI":"D001921","MajorTopicYN":"Y"},"@text":"Brain"},"QualifierName":[{"@attributes":{"UI":"Q000378","MajorTopicYN":"N"},"@text":"metabolism"},{"@attributes":{"UI":"Q000254","MajorTopicYN":"N"},"@text":"growth & development"},{"@attributes":{"UI":"Q000196","MajorTopicYN":"N"},"@text":"embryology"}]},{"DescriptorName":{"@attributes":{"UI":"D000328","MajorTopicYN":"N"},"@text":"Adult"}},{"DescriptorName":{"@attributes":{"UI":"D020033","MajorTopicYN":"N"},"@text":"Protein Isoforms"},"QualifierName":[{"@attributes":{"UI":"Q000378","MajorTopicYN":"N"},"@text":"metabolism"}]},{"DescriptorName":{"@attributes":{"UI":"D008297","MajorTopicYN":"N"},"@text":"Male"}},{"DescriptorName":{"@attributes":{"UI":"D002648","MajorTopicYN":"N"},"@text":"Child"}},{"DescriptorName":{"@attributes":{"UI":"D005260","MajorTopicYN":"N"},"@text":"Female"}},{"DescriptorName":{"@attributes":{"UI":"D002675","MajorTopicYN":"N"},"@text":"Child, Preschool"}},{"DescriptorName":{"@attributes":{"UI":"D000293","MajorTopicYN":"N"},"@text":"Adolescent"}},{"DescriptorName":{"@attributes":{"UI":"D055815","MajorTopicYN":"N"},"@text":"Young Adult"}},{"DescriptorName":{"@attributes":{"UI":"D008875","MajorTopicYN":"N"},"@text":"Middle Aged"}},{"DescriptorName":{"@attributes":{"UI":"D007223","MajorTopicYN":"N"},"@text":"Infant"}},{"DescriptorName":{"@attributes":{"UI":"D005968","MajorTopicYN":"N"},"@text":"Glutamate Decarboxylase"},"QualifierName":[{"@attributes":{"UI":"Q000378","MajorTopicYN":"N"},"@text":"metabolism"}]},{"DescriptorName":{"@attributes":{"UI":"D020388","MajorTopicYN":"N"},"@text":"Muscular Dystrophy, Duchenne"},"QualifierName":[{"@attributes":{"UI":"Q000378","MajorTopicYN":"N"},"@text":"metabolism"}]}]},"KeywordList":[{"@attributes":{"Owner":"NOTNLM"},"Keyword":[{"@attributes":{"MajorTopicYN":"N"},"@text":"Duchenne muscular dystrophy"},{"@attributes":{"MajorTopicYN":"N"},"@text":"Dystrophin"},{"@attributes":{"MajorTopicYN":"N"},"@text":"GABAergic neuron"},{"@attributes":{"MajorTopicYN":"N"},"@text":"Glutamergic neurons"},{"@attributes":{"MajorTopicYN":"N"},"@text":"Human brain"},{"@attributes":{"MajorTopicYN":"N"},"@text":"Intellectual disability"},{"@attributes":{"MajorTopicYN":"N"},"@text":"Purkinje neurons"}]}],"CoiStatement":"Declarations. Ethics approval and consent to participate: Human tissue procedures were conducted in accordance with the regulations with informed consent in accordance with the UK Human Tissue Act 2006 for study participation under ethical approval (NRES Committee London\u2014Fulham, UK; REC: 18\/LO\/0822). The human embryonic and foetal material was provided by the Joint MRC\/Wellcome Trust (Grants MR\/006237\/1, MR\/X008304\/1 and 226202\/Z\/22\/Z) Human Developmental Biology Resource ( https:\/\/www.hdbr.org ). Adult human brains were selected and procured from the Edinburgh Brain Bank (Ethic Ref 20\/PR\/0582). Tissue samples were obtained from the Edinburgh Brain Bank (EBB) and BRAIN UK, which is supported by Brain Tumour Research and has been established with the support of the British Neuropathological Society and the Medical Research Council. Consent for publication: Not applicable. Competing interests: As COI, FM is an investigator in Sarepta, Genethon, Roche clinical trials. He is the PI of the Sarepta grant supporting this work (funding to UCL), and has participated to advisory boards and\/or symposia for Sarepta, Roche, Dyne therapeutics, Wave and Entrada."},"PubmedData":{"History":{"PubMedPubDate":[{"@attributes":{"PubStatus":"received"},"Year":"2024","Month":"12","Day":"27"},{"@attributes":{"PubStatus":"accepted"},"Year":"2025","Month":"4","Day":"2"},{"@attributes":{"PubStatus":"medline"},"Year":"2025","Month":"5","Day":"22","Hour":"6","Minute":"28"},{"@attributes":{"PubStatus":"pubmed"},"Year":"2025","Month":"5","Day":"22","Hour":"0","Minute":"28"},{"@attributes":{"PubStatus":"entrez"},"Year":"2025","Month":"5","Day":"21","Hour":"23","Minute":"53"},{"@attributes":{"PubStatus":"pmc-release"},"Year":"2025","Month":"5","Day":"21"}]},"PublicationStatus":"epublish","ArticleIdList":{"ArticleId":[{"@attributes":{"IdType":"pubmed"},"@text":"40400011"},{"@attributes":{"IdType":"pmc"},"@text":"PMC12096690"},{"@attributes":{"IdType":"doi"},"@text":"10.1186\/s40478-025-01996-z"},{"@attributes":{"IdType":"pii"},"@text":"10.1186\/s40478-025-01996-z"}]},"ReferenceList":[{"Reference":[{"Citation":"Muntoni F, Torelli S, Ferlini A (2003) Dystrophin and mutations: one gene, several proteins, multiple phenotypes. 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