Vaillend Cyrille, Aoki Yoshitsugu, Mercuri Eugenio, Hendriksen Jos, Tetorou Konstantina, Goyenvalle Aurelie, Muntoni Francesco
Université Paris-Saclay, CNRS, Institut des Neurosciences Paris-Saclay, 91400, Saclay, Paris, France.
Department of Molecular Therapy, National Institute of Neuroscience, National Center of Neurology and Psychiatry (NCNP), Kodaira, Tokyo, 187-8502, Japan.
Nat Commun. 2025 Feb 3;16(1):1298. doi: 10.1038/s41467-025-56644-w.
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.
杜兴氏肌肉营养不良症（DMD）是最常见的儿童肌肉营养不良症，由DMD基因突变引起，影响肌肉抗肌萎缩蛋白的产生。脑抗肌萎缩蛋白基因产物也通过内部启动子转录。它们的缺乏会导致包括智力残疾（约22%的患者）、自闭症（约6%）和注意力缺陷障碍（约18%）在内的合并症，这对患者和家庭来说是一个重大的未满足需求。因此，需要改进对它们的诊断和治疗。营养不良小鼠模型表现出类似的表型，恢复脑抗肌萎缩蛋白的基因疗法可改善它们的行为。这表明未来的基因疗法可以解决DMD患者的肌肉和脑功能障碍问题。
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