Department of Molecular Biology, College of Natural Science, Pusan National University, Busan 46241, Korea.
BMB Rep. 2018 Jul;51(7):327-337. doi: 10.5483/bmbrep.2018.51.7.113.
Lamin A and its alternative splicing product Lamin C are the key intermediate filaments (IFs) of the inner nuclear membrane intermediate filament. Lamin A/C forms the inner nuclear mesh with Lamin B and works as a frame with a nuclear shape. In addition to supporting the function of nucleus, nuclear lamins perform important roles such as holding the nuclear pore complex and chromatin. However, mutations on the Lamin A or Lamin B related proteins induce various types of human genetic disorders and diseases including premature aging syndromes, muscular dystrophy, lipodystrophy and neuropathy. In this review, we briefly overview the relevance of genetic mutations of Lamin A, human disorders and laminopathies. We also discuss a mouse model for genetic diseases. Finally, we describe the current treatment for laminopathies. [BMB Reports 2018; 51(7): 327-337].
核纤层蛋白 A 和其剪接变异体核纤层蛋白 C 是核膜中间丝的主要成分。核纤层蛋白 A/C 与核纤层蛋白 B 一起形成核内网架，为细胞核提供形状支撑。核纤层蛋白除了支持细胞核的功能外，还具有维持核孔复合物和染色质的功能。然而，核纤层蛋白 A 或核纤层蛋白 B 相关蛋白的突变会引起多种人类遗传疾病，包括早衰综合征、肌肉营养不良、脂肪营养不良和神经病。在这篇综述中，我们简要概述了核纤层蛋白 A 的基因突变、人类疾病和核纤层病的相关性。我们还讨论了一种用于遗传疾病的小鼠模型。最后，我们描述了核纤层病的当前治疗方法。[BMB 报告 2018;51(7):327-337]。
