{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,7,30]],"date-time":"2026-07-30T15:42:32Z","timestamp":1785426152461,"version":"3.56.0"},"reference-count":66,"publisher":"MDPI AG","issue":"10","license":[{"start":{"date-parts":[[2026,5,9]],"date-time":"2026-05-09T00:00:00Z","timestamp":1778284800000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"DOI":"10.13039\/501100004587","name":"Instituto de Salud Carlos III","doi-asserted-by":"crossref","award":["PI25\/00992"],"award-info":[{"award-number":["PI25\/00992"]}],"id":[{"id":"10.13039\/501100004587","id-type":"DOI","asserted-by":"crossref"}]},{"award":["PI25\/00992"],"award-info":[{"award-number":["PI25\/00992"]}],"id":[{"id":"https:\/\/ror.org\/00ca2c886","id-type":"ROR","asserted-by":"publisher"}]},{"name":"Generalitat Valenciana (Conselleria of Education, Universities and Employment) PROMETEO 2024 programme","award":["CIPROM\/2023\/22"],"award-info":[{"award-number":["CIPROM\/2023\/22"]}]},{"award":["CIPROM\/2023\/22"],"award-info":[{"award-number":["CIPROM\/2023\/22"]}],"id":[{"id":"https:\/\/ror.org\/0097mvx21","id-type":"ROR","asserted-by":"publisher"}]},{"name":"Instituto de Salud Carlos III and the Spanish Ministry of Science and Innovation","award":["CP24\/00016"],"award-info":[{"award-number":["CP24\/00016"]}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["IJMS"],"abstract":"<jats:p>Myotonic dystrophy type 1 (DM1) is characterized by altered RNA processing, muscle wasting and metabolic dysregulation. In a previous in vitro study, we found reduced endogenous oleic acid (OA; 18:1n-9) in myogenic cells from DM1 patients, and short-term OA supplementation rescued key disease readouts. Here, we asked whether lipid pathways are perturbed in a DM1 in vivo background. We employed the widely used HSALR mouse model, which expresses human skeletal alpha-actin transcripts harbouring expanded CTG repeats and recapitulates key DM1 phenotypes. RNA-seq-derived functional enrichment across three independent HSALR datasets revealed a consistent enrichment of downregulated GO terms related to fatty-acid metabolism, suggesting impaired lipid handling. Guided by transcriptomic evidence of fatty-acid pathway downregulation, we quantified endogenous OA in HSALR mice versus FVB controls by LC-MS across sex, age (postnatal day 21 and 4 months) and tissue (quadriceps, gastrocnemius, and plasma), reporting values per tissue weight and per total protein. OA showed selective, context-dependent reductions in skeletal muscle, varying with tissue, sex, age and normalization, with the clearest deficits in males and in the gastrocnemius, while no generalized deficit was observed. Plasma OA was transiently higher at P21 in both sexes, consistent with the oleate-rich weaning mice diet. Together, the RNA-seq enrichment signal for fatty-acid pathways and the context-dependent OA changes point to network-level control (substrate supply, partitioning\/transport, cofactors or downstream utilization), positioning OA as a potential measurable candidate marker of DM1-like muscle pathology in HSALR mice.<\/jats:p>","DOI":"10.3390\/ijms27104211","type":"journal-article","created":{"date-parts":[[2026,5,12]],"date-time":"2026-05-12T07:49:09Z","timestamp":1778572149000},"page":"4211","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":0,"title":["Oleic Acid Levels in HSALR Mouse Model of Myotonic Dystrophy Type 1"],"prefix":"10.3390","volume":"27","author":[{"ORCID":"https:\/\/orcid.org\/0000-0001-6818-5900","authenticated-orcid":false,"given":"Dulce","family":"Peris-Moreno","sequence":"first","affiliation":[{"name":"CIBERER ISCIII, Avenida Monforte de Lemos 3-5, 28029 Madrid, Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Maria","family":"Sabater-Arcis","sequence":"additional","affiliation":[{"name":"CIBERER ISCIII, Avenida Monforte de Lemos 3-5, 28029 Madrid, Spain"},{"name":"Human Translational Genomics Group, University Institute for Biotechnology and Biomedicine (BIOTECMED), University of Valencia, Avenida Doctor Moliner 50, 46100 Valencia, Spain"},{"name":"INCLIVA Biomedical Research Institute, Avenida Menendez Pelayo 4, 46010 Valencia, Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Nerea","family":"Moreno","sequence":"additional","affiliation":[{"name":"CIBERER ISCIII, Avenida Monforte de Lemos 3-5, 28029 Madrid, Spain"},{"name":"Human Translational Genomics Group, University Institute for Biotechnology and Biomedicine (BIOTECMED), University of Valencia, Avenida Doctor Moliner 50, 46100 Valencia, Spain"},{"name":"INCLIVA Biomedical Research Institute, Avenida Menendez Pelayo 4, 46010 Valencia, Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-2756-4028","authenticated-orcid":false,"given":"Luis","family":"Ordu\u00f1a","sequence":"additional","affiliation":[{"name":"INCLIVA Biomedical Research Institute, Avenida Menendez Pelayo 4, 46010 Valencia, Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-1529-2635","authenticated-orcid":false,"given":"Arturo","family":"L\u00f3pez-Castel","sequence":"additional","affiliation":[{"name":"CIBERER ISCIII, Avenida Monforte de Lemos 3-5, 28029 Madrid, Spain"},{"name":"Human Translational Genomics Group, University Institute for Biotechnology and Biomedicine (BIOTECMED), University of Valencia, Avenida Doctor Moliner 50, 46100 Valencia, Spain"},{"name":"INCLIVA Biomedical Research Institute, Avenida Menendez Pelayo 4, 46010 Valencia, Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-4336-2522","authenticated-orcid":false,"given":"Ariadna","family":"Bargiela","sequence":"additional","affiliation":[{"name":"CIBERER ISCIII, Avenida Monforte de Lemos 3-5, 28029 Madrid, Spain"},{"name":"INCLIVA Biomedical Research Institute, Avenida Menendez Pelayo 4, 46010 Valencia, Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-1596-047X","authenticated-orcid":false,"given":"Ruben","family":"Artero","sequence":"additional","affiliation":[{"name":"CIBERER ISCIII, Avenida Monforte de Lemos 3-5, 28029 Madrid, Spain"},{"name":"Human Translational Genomics Group, University Institute for Biotechnology and Biomedicine (BIOTECMED), University of Valencia, Avenida Doctor Moliner 50, 46100 Valencia, Spain"},{"name":"INCLIVA Biomedical Research Institute, Avenida Menendez Pelayo 4, 46010 Valencia, Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"1968","published-online":{"date-parts":[[2026,5,9]]},"reference":[{"key":"ref_1","doi-asserted-by":"crossref","first-page":"1253","DOI":"10.1126\/science.1546325","article-title":"Myotonic Dystrophy Mutation: An Unstable CTG Repeat in the 3\u2032 Untranslated region of the Gene","volume":"255","author":"Mahadevan","year":"1992","journal-title":"Science"},{"key":"ref_2","doi-asserted-by":"crossref","first-page":"799","DOI":"10.1016\/0092-8674(92)90154-5","article-title":"Molecular basis of myotonic dystrophy: Expansion of a trinucleotide (CTG) repeat at the 3\u2019 end of a transcript encoding a protein kinase family member","volume":"68","author":"Brook","year":"1992","journal-title":"Cell"},{"key":"ref_3","doi-asserted-by":"crossref","unstructured":"L\u00f3pez-Mart\u00ednez, A., Soblechero-Mart\u00edn, P., De-La-puente-ovejero, L., Nogales-Gadea, G., and Arechavala-Gomeza, V. 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