Do lamin A/C and emerin mutations in satellite cells contribute to Emery-Driefuss muscular dystrophy?

肌肉由成千上万的肌纤维组成，这些肌纤维由称为卫星细胞的肌肉干细胞修复和再生。肌营养不良是一组遗传性疾病，其特征在于进行性肌无力和变性。由于肌肉负责运动，因此肌肉萎缩症的逐渐丧失会严重影响患者的生活质量，并且在某些疾病中，会大大缩短他们的寿命。受损的卫星细胞功能被认为是导致这些疾病中的一些肌肉损失的原因，包括Emery-Dreifuss肌营养不良症（EDMD）。研究表明，EDMD是由基因问题引起的，这些基因使蛋白质参与维持健康的细胞核。我们打算检查EDMD患者的卫星细胞，以了解这些突变蛋白质如何影响它们的功能以及肌肉修复。我们还将使用这种疾病的小鼠模型来研究卫星细胞生物学。小鼠卫星细胞的研究结果应该广泛适用于人类。理论上，操纵卫星细胞可以增强和延长肌营养不良症患者的肌肉功能，这也具有保持肌肉环境仍然能够对其他形式的治疗做出反应的优势。

Muscle is made of thousands of muscle fibres, which are repaired and regenerated by muscle stem cells called satellite cells. Muscular dystrophies are a group of inherited disorders that are characterised by progressive muscle weakness and degeneration. Since muscle is responsible for movement, its gradual loss in muscular dystrophies can severely affect the quality of life of a patient, and in some disorders, drastically shorten their lifespan. Compromised satellite cell function is thought to contribute to loss of muscle in some of these conditions, including Emery-Dreifuss muscular dystrophy (EDMD). It has been shown that EDMD is caused by problems in genes that make proteins involved in maintaining a healthy nucleus. We intend to examine satellite cells from patients suffering from EDMD to understand how these mutated proteins affected their function and so muscle repair. We will also use mouse models of the disease to study satellite cell biology. Findings on mouse satellite cells should be broadly applicable to man. Theoretically, manipulation of satellite cells could both augment and prolong muscle function in people with muscular dystrophy, which also has the advantage of maintaining a muscle environment still capable of responding to other forms of therapy.