Quantitative magnetic resonance imaging assessment of muscle composition in myotonic dystrophy mice
Abstract Myotonic dystrophy type 1 (DM1) is a severe autosomal dominant neuromuscular disease in which the musculoskeletal system contributes substantially to overall mortality and morbidity. DM1 stems from a noncoding CTG trinucleotide repeat expansion in the DMPK gene. The human skeletal actin lon...
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Nature Portfolio
2023-01-01
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| Series: | Scientific Reports |
| Online Access: | https://doi.org/10.1038/s41598-023-27661-w |
| _version_ | 1828063781688705024 |
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| author | Ariadna Bargiela Amadeo Ten-Esteve Luis Martí-Bonmatí Teresa Sevilla Manuel Perez Alonso Ruben Artero |
| author_facet | Ariadna Bargiela Amadeo Ten-Esteve Luis Martí-Bonmatí Teresa Sevilla Manuel Perez Alonso Ruben Artero |
| author_sort | Ariadna Bargiela |
| collection | DOAJ |
| description | Abstract Myotonic dystrophy type 1 (DM1) is a severe autosomal dominant neuromuscular disease in which the musculoskeletal system contributes substantially to overall mortality and morbidity. DM1 stems from a noncoding CTG trinucleotide repeat expansion in the DMPK gene. The human skeletal actin long repeat (HSALR) mouse model reproduces several aspects of the disease, but the muscle-wasting phenotype of this model has never been characterized in vivo. Herein, we used quantitative MRI to measure the fat and muscle volumes in the leg compartment (LC) of mice. These acquired data were processed to extract relevant parameters such as fat fraction and fat infiltration (fat LC/LC) in HSALR and control (FBV) muscles. These results showed increased fat volume (fat LC) and fat infiltration within the muscle tissue of the leg compartment (muscle LC), in agreement with necropsies, in which fatty clumps were observed, and consistent with previous findings in DM1 patients. Model mice did not reproduce the characteristic impaired fat fraction, widespread fat replacement through the muscles, or reduced muscle volume reported in patients. Taken together, the observed abnormal replacement of skeletal muscle by fat in the HSALR mice indicates that these mice partially reproduced the muscle phenotype observed in humans. |
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| format | Article |
| id | doaj.art-b9aafc6c3136457396120ee9219bff78 |
| institution | Directory Open Access Journal |
| issn | 2045-2322 |
| language | English |
| last_indexed | 2024-04-10T22:48:33Z |
| publishDate | 2023-01-01 |
| publisher | Nature Portfolio |
| record_format | Article |
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| spelling | doaj.art-b9aafc6c3136457396120ee9219bff782023-01-15T12:11:58ZengNature PortfolioScientific Reports2045-23222023-01-011311810.1038/s41598-023-27661-wQuantitative magnetic resonance imaging assessment of muscle composition in myotonic dystrophy miceAriadna Bargiela0Amadeo Ten-Esteve1Luis Martí-Bonmatí2Teresa Sevilla3Manuel Perez Alonso4Ruben Artero5Neurology Department, La Fe Health Research Institute (IISLAFE), Neuromuscular Research UnitBiomedical Imaging Research Group (GIBI230) and “La Fe” Imaging Node of the Distributed Biomedical Imaging Network (ReDIB), Singular Scientific and Technical Infrastructures (ICTS)Biomedical Imaging Research Group (GIBI230) and “La Fe” Imaging Node of the Distributed Biomedical Imaging Network (ReDIB), Singular Scientific and Technical Infrastructures (ICTS)Neurology Department, La Fe Health Research Institute (IISLAFE), Neuromuscular Research UnitUniversity Research Institute for Biotechnology and Biomedicine (BIOTECMED), University of ValenciaUniversity Research Institute for Biotechnology and Biomedicine (BIOTECMED), University of ValenciaAbstract Myotonic dystrophy type 1 (DM1) is a severe autosomal dominant neuromuscular disease in which the musculoskeletal system contributes substantially to overall mortality and morbidity. DM1 stems from a noncoding CTG trinucleotide repeat expansion in the DMPK gene. The human skeletal actin long repeat (HSALR) mouse model reproduces several aspects of the disease, but the muscle-wasting phenotype of this model has never been characterized in vivo. Herein, we used quantitative MRI to measure the fat and muscle volumes in the leg compartment (LC) of mice. These acquired data were processed to extract relevant parameters such as fat fraction and fat infiltration (fat LC/LC) in HSALR and control (FBV) muscles. These results showed increased fat volume (fat LC) and fat infiltration within the muscle tissue of the leg compartment (muscle LC), in agreement with necropsies, in which fatty clumps were observed, and consistent with previous findings in DM1 patients. Model mice did not reproduce the characteristic impaired fat fraction, widespread fat replacement through the muscles, or reduced muscle volume reported in patients. Taken together, the observed abnormal replacement of skeletal muscle by fat in the HSALR mice indicates that these mice partially reproduced the muscle phenotype observed in humans.https://doi.org/10.1038/s41598-023-27661-w |
| spellingShingle | Ariadna Bargiela Amadeo Ten-Esteve Luis Martí-Bonmatí Teresa Sevilla Manuel Perez Alonso Ruben Artero Quantitative magnetic resonance imaging assessment of muscle composition in myotonic dystrophy mice Scientific Reports |
| title | Quantitative magnetic resonance imaging assessment of muscle composition in myotonic dystrophy mice |
| title_full | Quantitative magnetic resonance imaging assessment of muscle composition in myotonic dystrophy mice |
| title_fullStr | Quantitative magnetic resonance imaging assessment of muscle composition in myotonic dystrophy mice |
| title_full_unstemmed | Quantitative magnetic resonance imaging assessment of muscle composition in myotonic dystrophy mice |
| title_short | Quantitative magnetic resonance imaging assessment of muscle composition in myotonic dystrophy mice |
| title_sort | quantitative magnetic resonance imaging assessment of muscle composition in myotonic dystrophy mice |
| url | https://doi.org/10.1038/s41598-023-27661-w |
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