دورية أكاديمية
Neuromuscular dysfunction and pathogenesis in triosephosphate isomerase deficiency.
| العنوان: | Neuromuscular dysfunction and pathogenesis in triosephosphate isomerase deficiency. |
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| المؤلفون: | Myers TD; Center for Neuroscience at the University of Pittsburgh, Pittsburgh, PA, USA.; Department of Pharmacology & Chemical Biology, University of Pittsburgh, Pittsburgh, PA, USA.; Pittsburgh Institute for Neurodegenerative Diseases, University of Pittsburgh, Pittsburgh, PA, USA., Li Y; Center for Neuroscience at the University of Pittsburgh, Pittsburgh, PA, USA.; Department of Neuroscience, University of Pittsburgh, Pittsburgh, PA, USA., Taiclet S; Department of Pharmacology & Chemical Biology, University of Pittsburgh, Pittsburgh, PA, USA.; Heart, Lung, Blood, and Vascular Medicine Institute, University of Pittsburgh, Pittsburgh, PA, USA., Cabada-Aguirre P; Center for Neuroscience at the University of Pittsburgh, Pittsburgh, PA, USA.; Department of Pharmacology & Chemical Biology, University of Pittsburgh, Pittsburgh, PA, USA.; Pittsburgh Institute for Neurodegenerative Diseases, University of Pittsburgh, Pittsburgh, PA, USA., Kuti E; Department of Pharmacology & Chemical Biology, University of Pittsburgh, Pittsburgh, PA, USA.; Pittsburgh Institute for Neurodegenerative Diseases, University of Pittsburgh, Pittsburgh, PA, USA., McClure K; Department of Pharmacology & Chemical Biology, University of Pittsburgh, Pittsburgh, PA, USA.; Pittsburgh Institute for Neurodegenerative Diseases, University of Pittsburgh, Pittsburgh, PA, USA., Blanchard C; Department of Neuroscience, University of Pittsburgh, Pittsburgh, PA, USA., Wolosowicz M; Department of Pharmacology & Chemical Biology, University of Pittsburgh, Pittsburgh, PA, USA.; Pittsburgh Institute for Neurodegenerative Diseases, University of Pittsburgh, Pittsburgh, PA, USA., Homanics GE; Center for Neuroscience at the University of Pittsburgh, Pittsburgh, PA, USA.; Department of Pharmacology & Chemical Biology, University of Pittsburgh, Pittsburgh, PA, USA.; Department of Anesthesiology and Preoperative Medicine, University of Pittsburgh, Pittsburgh, PA, USA.; Department of Neurobiology, University of Pittsburgh, Pittsburgh, PA, USA., Straub AC; Department of Pharmacology & Chemical Biology, University of Pittsburgh, Pittsburgh, PA, USA.; Heart, Lung, Blood, and Vascular Medicine Institute, University of Pittsburgh, Pittsburgh, PA, USA., Meriney SD; Center for Neuroscience at the University of Pittsburgh, Pittsburgh, PA, USA.; Department of Neuroscience, University of Pittsburgh, Pittsburgh, PA, USA., Palladino MJ; Center for Neuroscience at the University of Pittsburgh, Pittsburgh, PA, USA. mjp44@pitt.edu.; Department of Pharmacology & Chemical Biology, University of Pittsburgh, Pittsburgh, PA, USA. mjp44@pitt.edu.; Pittsburgh Institute for Neurodegenerative Diseases, University of Pittsburgh, Pittsburgh, PA, USA. mjp44@pitt.edu. |
| المصدر: | Scientific reports [Sci Rep] 2024 Aug 10; Vol. 14 (1), pp. 18575. Date of Electronic Publication: 2024 Aug 10. |
| نوع المنشور: | Journal Article |
| اللغة: | English |
| بيانات الدورية: | Publisher: Nature Publishing Group Country of Publication: England NLM ID: 101563288 Publication Model: Electronic Cited Medium: Internet ISSN: 2045-2322 (Electronic) Linking ISSN: 20452322 NLM ISO Abbreviation: Sci Rep Subsets: MEDLINE |
| أسماء مطبوعة: | Original Publication: London : Nature Publishing Group, copyright 2011- |
| مواضيع طبية MeSH: | Triose-Phosphate Isomerase*/deficiency , Triose-Phosphate Isomerase*/genetics , Triose-Phosphate Isomerase*/metabolism , Disease Models, Animal* , Neuromuscular Junction*/pathology , Neuromuscular Junction*/metabolism, Animals ; Mice ; Anemia, Hemolytic, Congenital Nonspherocytic/genetics ; Anemia, Hemolytic, Congenital Nonspherocytic/pathology ; Neuromuscular Diseases/genetics ; Neuromuscular Diseases/pathology ; Neuromuscular Diseases/etiology ; Carbohydrate Metabolism, Inborn Errors/genetics ; Mutation ; Humans |
| مستخلص: | Triosephosphate isomerase deficiency (TPI Df) is a rare multisystem disorder with severe neuromuscular symptoms which arises exclusively from mutations within the TPI1 gene. Studies of TPI Df have been limited due to the absence of mammalian disease models and difficulties obtaining patient samples. Recently, we developed a novel murine model of TPI Df which models the most common disease-causing mutation in humans, TPI1 E105D . Using our model in the present study, the underlying pathogenesis of neuromuscular symptoms has been elucidated. This is the first report detailing studies of neuromuscular pathology within a murine model of TPI Df. We identified several contributors to neuromuscular symptoms, including neurodegeneration in the brain, alterations in neurotransmission at the neuromuscular junction, and reduced muscle fiber size. TPI Df mice also exhibited signs of cardiac pathology and displayed a deficit in vascular smooth muscle functionality. Together, these findings provide insight into pathogenesis of the neuromuscular symptoms in TPI Df and can guide the future development of therapeutics. (© 2024. The Author(s).) |
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| معلومات مُعتمدة: | T32 GM133332 United States NH NIH HHS; U01 AA020889 United States NH NIH HHS; R35HL 161177 United States NH NIH HHS; R03 NS119664 United States NH NIH HHS |
| المشرفين على المادة: | EC 5.3.1.1 (Triose-Phosphate Isomerase) |
| SCR Disease Name: | Triosephosphate Isomerase Deficiency |
| تواريخ الأحداث: | Date Created: 20240810 Date Completed: 20240810 Latest Revision: 20240813 |
| رمز التحديث: | 20240813 |
| مُعرف محوري في PubMed: | PMC11316810 |
| DOI: | 10.1038/s41598-024-69618-7 |
| PMID: | 39127839 |
| قاعدة البيانات: | MEDLINE |
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Full Text Finder | تدمد: | 2045-2322 |
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| DOI: | 10.1038/s41598-024-69618-7 |