Sorbonne Université, INSERM UMRS974, Center of Research in Myology, Institut de Myologie, Paris, France.
Department of Medicine.
Curr Opin Neurol. 2019 Oct;32(5):728-734. doi: 10.1097/WCO.0000000000000741.
Emery-Dreifuss muscular dystrophy (EDMD) is caused by mutations in EMD encoding emerin and LMNA encoding A-type lamins, proteins of the nuclear envelope. In the past decade, there has been an extraordinary burst of research on the nuclear envelope. Discoveries resulting from this basic research have implications for better understanding the pathogenesis and developing treatments for EDMD.
Recent clinical research has confirmed that EDMD is one of several overlapping skeletal muscle phenotypes that can result from mutations in EMD and LMNA with dilated cardiomyopathy as a common feature. Basic research on the nuclear envelope has provided new insights into how A-type lamins and emerin function in force transmission throughout the cell, which may be particularly important in striated muscle. Much of the recent research has focused on the heart and LMNA mutations. Prevalence and outcome studies have confirmed the relative severity of cardiac disease. Robust mouse models of EDMD caused by LMNA mutations has allowed for further insight into pathogenic mechanisms and potentially beneficial therapeutic approaches.
Recent clinical and basic research on EDMD is gradually being translated to clinical practice and possibly novel therapies.
先天性肌营养不良症（EDMD）是由编码核膜蛋白 emerin 的 EMD 基因突变和编码 A 型核纤层蛋白的 LMNA 基因突变引起的。在过去的十年中，核膜的基础研究取得了非凡的突破。这些基础研究的发现对更好地理解 EDMD 的发病机制和开发治疗方法具有重要意义。
最近的临床研究证实，EDMD 是由 EMD 和 LMNA 基因突变引起的几种重叠的骨骼肌表型之一，其特征为扩张型心肌病。核膜的基础研究为 A 型核纤层蛋白和 emerin 在细胞内力传递中的作用提供了新的见解，这在横纹肌中可能尤为重要。最近的大部分研究都集中在心脏和 LMNA 突变上。患病率和预后研究证实了心脏疾病的相对严重程度。由 LMNA 突变引起的 EDMD 的强大小鼠模型允许进一步深入了解发病机制和潜在的有益治疗方法。
EDMD 的最近的临床和基础研究正在逐渐转化为临床实践和可能的新疗法。
