Taking advantage of an old concept, "illegitimate transcription", for a proposed novel method of genetic diagnosis of McArdle disease

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dc.contributor.author García-Consuegra, Inés
dc.contributor.author Blázquez Encinar, Alberto
dc.contributor.author Rubio, Juan Carlos
dc.contributor.author Arenas, Joaquín
dc.contributor.author Ballester López, Alfonsina
dc.contributor.author González Quintana, Adrián
dc.contributor.author Andreu, Antoni L.
dc.contributor.author Pinós, Tomás
dc.contributor.author Coll Cantí, Jaume
dc.contributor.author Lucía Mulas, Alejandro
dc.contributor.author Nogales-Gadea, Gisela
dc.contributor.author Martín, Miguel Ángel
dc.date.accessioned 2016-03-08T12:04:34Z
dc.date.available 2016-03-08T12:04:34Z
dc.date.issued 2016
dc.identifier.citation Garcia-Consuegra, I., Blázquez, A., Rubio, J. C., Arenas, J., Ballester-Lopez, A., González-Quintana, A., ... & Nogales-Gadea, G. (2016). Taking advantage of an old concept,[ldquo] illegitimate transcription [rdquo], for a proposed novel method of genetic diagnosis of McArdle disease. Genetics in Medicine, 18(11),1128-1135. DOI: 10.1038/gim.2015.219 spa
dc.identifier.issn 10983600
dc.identifier.uri http://hdl.handle.net/11268/5014
dc.description.abstract McArdle disease is a metabolic disorder caused by pathogenic mutations in the PYGM gene. Timely diagnosis can sometimes be difficult with direct genomic analysis, which requires additional studies of cDNA from muscle transcripts. Although the "nonsense-mediated mRNA decay" (NMD) eliminates tissue-specific aberrant transcripts, there is some residual transcription of tissue-specific genes in virtually all cells, such as peripheral blood mononuclear cells (PBMCs).We studied a subset of the main types of PYGM mutations (deletions, missense, nonsense, silent, or splicing mutations) in cDNA from easily accessible cells (PBMCs) in 12 McArdle patients.Analysis of cDNA from PBMCs allowed detection of all mutations. Importantly, the effects of mutations with unknown pathogenicity (silent and splicing mutations) were characterized in PBMCs. Because the NMD mechanism does not seem to operate in nonspecific cells, PBMCs were more suitable than muscle biopsies for detecting the pathogenicity of some PYGM mutations, notably the silent mutation c.645G>A (p.K215=), whose effect in the splicing of intron 6 was unnoticed in previous muscle transcriptomic studies.We propose considering the use of PBMCs for detecting mutations that are thought to cause McArdle disease, particularly for studying their actual pathogenicity. spa
dc.description.sponsorship Sin financiación spa
dc.language.iso eng spa
dc.subject.other McArdle disease spa
dc.subject.other PYGM mutations spa
dc.title Taking advantage of an old concept, "illegitimate transcription", for a proposed novel method of genetic diagnosis of McArdle disease spa
dc.type article spa
dc.description.impact 8.229 JCR (2016) Q1, 10/167 Genetics and Heredity spa
dc.description.impact 4.614 SJR (2016) Q1, 6/103 Genetics (clinical), 45/2886 Medicine (miscellaneous) spa
dc.description.impact No data IDR 2016 spa
dc.identifier.doi 10.1038/gim.2015.219
dc.rights.accessRights openAccess spa
dc.subject.uem Genética humana spa
dc.subject.uem Salud spa
dc.subject.unesco Genética humana spa
dc.subject.unesco Salud spa
dc.description.filiation UEM spa
dc.peerreviewed Si spa

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