Skeletal Muscle Pathogenesis in Polyglutamine Diseases
Polyglutamine diseases are characterized by selective dysfunction and degeneration of specific types of neurons in the central nervous system. In addition, nonneuronal cells can also be affected as a consequence of primary degeneration or due to neuronal dysfunction. Skeletal muscle is a primary sit...
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| Format: | Article |
| Language: | English |
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MDPI AG
2022-07-01
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| Series: | Cells |
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| Online Access: | https://www.mdpi.com/2073-4409/11/13/2105 |
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| author | Caterina Marchioretti Emanuela Zuccaro Udai Bhan Pandey Jessica Rosati Manuela Basso Maria Pennuto |
| author_facet | Caterina Marchioretti Emanuela Zuccaro Udai Bhan Pandey Jessica Rosati Manuela Basso Maria Pennuto |
| author_sort | Caterina Marchioretti |
| collection | DOAJ |
| description | Polyglutamine diseases are characterized by selective dysfunction and degeneration of specific types of neurons in the central nervous system. In addition, nonneuronal cells can also be affected as a consequence of primary degeneration or due to neuronal dysfunction. Skeletal muscle is a primary site of toxicity of polyglutamine-expanded androgen receptor, but it is also affected in other polyglutamine diseases, more likely due to neuronal dysfunction and death. Nonetheless, pathological processes occurring in skeletal muscle atrophy impact the entire body metabolism, thus actively contributing to the inexorable progression towards the late and final stages of disease. Skeletal muscle atrophy is well recapitulated in animal models of polyglutamine disease. In this review, we discuss the impact and relevance of skeletal muscle in patients affected by polyglutamine diseases and we review evidence obtained in animal models and patient-derived cells modeling skeletal muscle. |
| first_indexed | 2024-03-09T22:00:58Z |
| format | Article |
| id | doaj.art-cb251da92dcd44b58b067bfb22c14bbd |
| institution | Directory Open Access Journal |
| issn | 2073-4409 |
| language | English |
| last_indexed | 2024-03-09T22:00:58Z |
| publishDate | 2022-07-01 |
| publisher | MDPI AG |
| record_format | Article |
| series | Cells |
| spelling | doaj.art-cb251da92dcd44b58b067bfb22c14bbd2023-11-23T19:49:35ZengMDPI AGCells2073-44092022-07-011113210510.3390/cells11132105Skeletal Muscle Pathogenesis in Polyglutamine DiseasesCaterina Marchioretti0Emanuela Zuccaro1Udai Bhan Pandey2Jessica Rosati3Manuela Basso4Maria Pennuto5Department of Biomedical Sciences (DBS), University of Padova, 35131 Padova, ItalyDepartment of Biomedical Sciences (DBS), University of Padova, 35131 Padova, ItalyDepartment of Pediatrics, Children’s Hospital of Pittsburgh, University of Pittsburgh School of Medicine, Pittsburgh, PA 15100, USACellular Reprogramming Unit, Fondazione IRCCS Casa Sollievo della Sofferenza, San Giovanni Rotondo, 71100 Foggia, ItalyDepartment of Cellular, Computational and Integrative Biology (CIBIO), University of Trento, 38100 Trento, ItalyDepartment of Biomedical Sciences (DBS), University of Padova, 35131 Padova, ItalyPolyglutamine diseases are characterized by selective dysfunction and degeneration of specific types of neurons in the central nervous system. In addition, nonneuronal cells can also be affected as a consequence of primary degeneration or due to neuronal dysfunction. Skeletal muscle is a primary site of toxicity of polyglutamine-expanded androgen receptor, but it is also affected in other polyglutamine diseases, more likely due to neuronal dysfunction and death. Nonetheless, pathological processes occurring in skeletal muscle atrophy impact the entire body metabolism, thus actively contributing to the inexorable progression towards the late and final stages of disease. Skeletal muscle atrophy is well recapitulated in animal models of polyglutamine disease. In this review, we discuss the impact and relevance of skeletal muscle in patients affected by polyglutamine diseases and we review evidence obtained in animal models and patient-derived cells modeling skeletal muscle.https://www.mdpi.com/2073-4409/11/13/2105Huntington’s diseasespinal and bulbar muscular atrophyspinocerebellar ataxiaskeletal muscle atrophypolyglutamine diseases |
| spellingShingle | Caterina Marchioretti Emanuela Zuccaro Udai Bhan Pandey Jessica Rosati Manuela Basso Maria Pennuto Skeletal Muscle Pathogenesis in Polyglutamine Diseases Cells Huntington’s disease spinal and bulbar muscular atrophy spinocerebellar ataxia skeletal muscle atrophy polyglutamine diseases |
| title | Skeletal Muscle Pathogenesis in Polyglutamine Diseases |
| title_full | Skeletal Muscle Pathogenesis in Polyglutamine Diseases |
| title_fullStr | Skeletal Muscle Pathogenesis in Polyglutamine Diseases |
| title_full_unstemmed | Skeletal Muscle Pathogenesis in Polyglutamine Diseases |
| title_short | Skeletal Muscle Pathogenesis in Polyglutamine Diseases |
| title_sort | skeletal muscle pathogenesis in polyglutamine diseases |
| topic | Huntington’s disease spinal and bulbar muscular atrophy spinocerebellar ataxia skeletal muscle atrophy polyglutamine diseases |
| url | https://www.mdpi.com/2073-4409/11/13/2105 |
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