Duchenne muscular dystrophy: recent insights in brain related comorbidities
Abstract Duchenne muscular dystrophy (DMD), the most common childhood muscular dystrophy, arises from DMD gene mutations, affecting the production of muscle dystrophin protein. Brain dystrophin-gene products are also transcribed via internal promoters. Their deficiency contributes to comorbidities,...
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| Format: | Article |
| Language: | English |
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Nature Portfolio
2025-02-01
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| Series: | Nature Communications |
| Online Access: | https://doi.org/10.1038/s41467-025-56644-w |
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| author | Cyrille Vaillend Yoshitsugu Aoki Eugenio Mercuri Jos Hendriksen Konstantina Tetorou Aurelie Goyenvalle Francesco Muntoni |
| author_facet | Cyrille Vaillend Yoshitsugu Aoki Eugenio Mercuri Jos Hendriksen Konstantina Tetorou Aurelie Goyenvalle Francesco Muntoni |
| author_sort | Cyrille Vaillend |
| collection | DOAJ |
| description | Abstract Duchenne muscular dystrophy (DMD), the most common childhood muscular dystrophy, arises from DMD gene mutations, affecting the production of muscle dystrophin protein. Brain dystrophin-gene products are also transcribed via internal promoters. Their deficiency contributes to comorbidities, including intellectual disability ( ~ 22% of patients), autism ( ~ 6%) and attention deficit disorders ( ~ 18%), representing a major unmet need for patients and families. Thus, improvement of their diagnosis and treatment is needed. Dystrophic mouse models exhibit similar phenotypes, where genetic therapies restoring brain dystrophins improve their behaviour. This suggests that future genetic therapies could address both muscle and brain dysfunction in DMD patients. |
| format | Article |
| id | doaj-art-c0afc16ce2794652837fad0ff967244f |
| institution | Kabale University |
| issn | 2041-1723 |
| language | English |
| publishDate | 2025-02-01 |
| publisher | Nature Portfolio |
| record_format | Article |
| series | Nature Communications |
| spelling | doaj-art-c0afc16ce2794652837fad0ff967244f2025-02-09T12:45:37ZengNature PortfolioNature Communications2041-17232025-02-0116111210.1038/s41467-025-56644-wDuchenne muscular dystrophy: recent insights in brain related comorbiditiesCyrille Vaillend0Yoshitsugu Aoki1Eugenio Mercuri2Jos Hendriksen3Konstantina Tetorou4Aurelie Goyenvalle5Francesco Muntoni6Université Paris-Saclay, CNRS, Institut des Neurosciences Paris-SaclayDepartment of Molecular Therapy, National Institute of Neuroscience, National Center of Neurology and Psychiatry (NCNP)Department of Paediatric Neurology, Catholic UniversityKempenhaeghe Centre for Neurological Learning Disabilities, Heeze, the Netherlands; Maastricht University, School for Mental Health and NeuroscienceUniversity College London Great Ormond Street Institute of Child HealthUniversité Paris-Saclay, UVSQ, Inserm, END-ICAPUniversity College London Great Ormond Street Institute of Child HealthAbstract Duchenne muscular dystrophy (DMD), the most common childhood muscular dystrophy, arises from DMD gene mutations, affecting the production of muscle dystrophin protein. Brain dystrophin-gene products are also transcribed via internal promoters. Their deficiency contributes to comorbidities, including intellectual disability ( ~ 22% of patients), autism ( ~ 6%) and attention deficit disorders ( ~ 18%), representing a major unmet need for patients and families. Thus, improvement of their diagnosis and treatment is needed. Dystrophic mouse models exhibit similar phenotypes, where genetic therapies restoring brain dystrophins improve their behaviour. This suggests that future genetic therapies could address both muscle and brain dysfunction in DMD patients.https://doi.org/10.1038/s41467-025-56644-w |
| spellingShingle | Cyrille Vaillend Yoshitsugu Aoki Eugenio Mercuri Jos Hendriksen Konstantina Tetorou Aurelie Goyenvalle Francesco Muntoni Duchenne muscular dystrophy: recent insights in brain related comorbidities Nature Communications |
| title | Duchenne muscular dystrophy: recent insights in brain related comorbidities |
| title_full | Duchenne muscular dystrophy: recent insights in brain related comorbidities |
| title_fullStr | Duchenne muscular dystrophy: recent insights in brain related comorbidities |
| title_full_unstemmed | Duchenne muscular dystrophy: recent insights in brain related comorbidities |
| title_short | Duchenne muscular dystrophy: recent insights in brain related comorbidities |
| title_sort | duchenne muscular dystrophy recent insights in brain related comorbidities |
| url | https://doi.org/10.1038/s41467-025-56644-w |
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