Most inherited diseases are associated with mutations in a specific gene. Often, mutations in two or more different genes result in diseases with a similar phenotype. Rarely do different mutations in the same gene result in a multitude of seemingly different and unrelated diseases. Mutations in the Lamin A gene (LMNA), which encodes largely ubiquitously expressed nuclear proteins (A-type lamins), are associated with at least eight different diseases, collectively called the laminopathies. Studies examining how different tissue-specific diseases arise from unique LMNA mutations are providing unanticipated insights into the structural organization of the nucleus, and how disruption of this organization relates to novel mechanisms of disease.

中文翻译：

---

椎间盘病变：核的功能结构及其对疾病的贡献。

大多数遗传性疾病与特定基因的突变有关。通常，两个或多个不同基因的突变会导致具有相似表型的疾病。同一基因中很少有不同的突变会导致许多看似不同且无关的疾病。编码大量无处不在表达的核蛋白（A型核纤层蛋白）的Lamin A基因（LMNA）中的突变与至少八种不同的疾病（统称为laminopathies）有关。旨在研究独特的LMNA突变如何引起不同组织特异性疾病的研究为人们提供了对核结构组织以及该组织的破坏如何与疾病的新机制相关的出乎意料的见识。