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  • Falzarano, Maria SofiaUniv Ferrara, UOL Unita Operat Logist Med Genet, Ferrara, Italy. (författare)

Urine-Derived Stem Cells Express 571 Neuromuscular Disorders Causing Genes, Making Them a Potential in vitro Model for Rare Genetic Diseases

  • Artikel/kapitelEngelska2021

Förlag, utgivningsår, omfång ...

  • FRONTIERS MEDIA SA,2021
  • printrdacarrier

Nummerbeteckningar

  • LIBRIS-ID:oai:DiVA.org:kth-305130
  • https://urn.kb.se/resolve?urn=urn:nbn:se:kth:diva-305130URI
  • https://doi.org/10.3389/fphys.2021.716471DOI

Kompletterande språkuppgifter

  • Språk:engelska
  • Sammanfattning på:engelska

Ingår i deldatabas

Klassifikation

  • Ämneskategori:ref swepub-contenttype
  • Ämneskategori:art swepub-publicationtype

Anmärkningar

  • QC 20211122
  • Background: Neuromuscular disorders (NMDs) are a heterogeneous group of genetic diseases, caused by mutations in genes involved in spinal cord, peripheral nerve, neuromuscular junction, and muscle functions. To advance the knowledge of the pathological mechanisms underlying NMDs and to eventually identify new potential drugs paving the way for personalized medicine, limitations regarding the availability of neuromuscular disease-related biological samples, rarely accessible from patients, are a major challenge. & nbsp; Aim: We characterized urinary stem cells (USCs) by in-depth transcriptome and protein profiling to evaluate whether this easily accessible source of patient-derived cells is suitable to study neuromuscular genetic diseases, focusing especially on those currently involved in clinical trials. & nbsp; Methods: The global transcriptomics of either native or MyoD transformed USCs obtained from control individuals was performed by RNA-seq. The expression of 610 genes belonging to 16 groups of disorders () whose mutations cause neuromuscular diseases, was investigated on the RNA-seq output. In addition, protein expression of 11 genes related to NMDs including COL6A, EMD, LMNA, SMN, UBA1, DYNC1H1, SOD1, C9orf72, DYSF, DAG1, and HTT was analyzed in native USCs by immunofluorescence and/or Western blot (WB). & nbsp; Results: RNA-seq profile of control USCs shows that 571 out of 610 genes known to be involved in NMDs, are expressed in USCs. Interestingly, the expression levels of the majority of NMD genes remain unmodified following USCs MyoD transformation. Most genes involved in the pathogenesis of all 16 groups of NMDs are well represented except for channelopathies and malignant hyperthermia related genes. All tested proteins showed high expression values, suggesting consistency between transcription and protein representation in USCs. & nbsp; Conclusion: Our data suggest that USCs are human cells, obtainable by non-invasive means, which might be used as a patient-specific cell model to study neuromuscular disease-causing genes and that they can be likely adopted for a variety of in vitro functional studies such as mutation characterization, pathway identification, and drug screening.

Ämnesord och genrebeteckningar

Biuppslag (personer, institutioner, konferenser, titlar ...)

  • Rossi, RacheleUniv Ferrara, UOL Unita Operat Logist Med Genet, Ferrara, Italy.;UCL Great Ormond St Inst Child Hlth, Dubowitz Neuromuscular Ctr, London, England. (författare)
  • Grilli, AndreaUniv Modena & Reggio Emilia, Dept Life Sci, Modena, Italy. (författare)
  • Fang, MingyanBeijing Genom Inst BGI Shenzhen, Shenzhen, Peoples R China. (författare)
  • Osman, HanaUniv Ferrara, UOL Unita Operat Logist Med Genet, Ferrara, Italy.;Univ Khartoum, Fac Med Lab Sci, Dept Med Microbiol, Khartoum, Sudan. (författare)
  • Sabatelli, PatriziaCNR Inst Mol Genet Luigi Luca Cavalli Sforza, Unit Bologna, Bologna, Italy.;Ist Ortoped Rizzoli, Ist Ricovero & Cura Carattere Sci IRCCS, Bologna, Italy. (författare)
  • Antoniel, ManuelaCNR Inst Mol Genet Luigi Luca Cavalli Sforza, Unit Bologna, Bologna, Italy.;Ist Ortoped Rizzoli, Ist Ricovero & Cura Carattere Sci IRCCS, Bologna, Italy. (författare)
  • Lu, ZhiyuanBeijing Genom Inst BGI Shenzhen, Shenzhen, Peoples R China. (författare)
  • Li, WenyanBeijing Genom Inst BGI Shenzhen, Shenzhen, Peoples R China. (författare)
  • Selvatici, RitaUniv Ferrara, UOL Unita Operat Logist Med Genet, Ferrara, Italy. (författare)
  • Al-Khalili Szigyarto, CristinaKTH,Proteinvetenskap,Dept Prote, Stockholm, Sweden.(Swepub:kth)u1c02mh9 (författare)
  • Gualandi, FrancescaUniv Ferrara, UOL Unita Operat Logist Med Genet, Ferrara, Italy. (författare)
  • Bicciato, SilvioUniv Modena & Reggio Emilia, Dept Life Sci, Modena, Italy. (författare)
  • Torelli, SilviaUCL Great Ormond St Inst Child Hlth, Dubowitz Neuromuscular Ctr, London, England.;UCL, Natl Inst Hlth Res, Great Ormond St Inst Child Hlth, Biomed Res Ctr, London, England. (författare)
  • Ferlini, AlessandraUniv Ferrara, UOL Unita Operat Logist Med Genet, Ferrara, Italy.;UCL Great Ormond St Inst Child Hlth, Dubowitz Neuromuscular Ctr, London, England. (författare)
  • Univ Ferrara, UOL Unita Operat Logist Med Genet, Ferrara, Italy.Univ Ferrara, UOL Unita Operat Logist Med Genet, Ferrara, Italy.;UCL Great Ormond St Inst Child Hlth, Dubowitz Neuromuscular Ctr, London, England. (creator_code:org_t)

Sammanhörande titlar

  • Ingår i:Frontiers in Physiology: FRONTIERS MEDIA SA121664-042X

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