a Laboratory of Nuclear Proteins, Faculty of Biotechnology , University of Wroclaw , Fryderyka Joliot-Curie, Wroclaw , Poland.
b Department of Genetics , Institute of Life Sciences, Hebrew University of Jerusalem , Jerusalem , Israel.
Nucleus. 2018 Jan 1;9(1):227-234. doi: 10.1080/19491034.2018.1454166.
Lamins are evolutionarily conserved nuclear intermediate filament proteins. They provide structural support for the nucleus and help regulate many other nuclear activities. Mutations in human lamin genes, and especially in the LMNA gene, cause numerous diseases, termed laminopathies, including muscle, cardiac, metabolic, neuronal and early aging diseases. Most laminopathies arise from autosomal dominant missense mutations. Many of the mutant residues are conserved in the lamin genes of the nematode Caenorhabditis elegans and the fruit fly Drosophila melanogaster. Our current understanding of the mechanisms leading to these diseases is mostly based on patients cell lines and animal models including C. elegans and D. melanogaster. The simpler lamin system and the powerful genetic tools offered by these invertebrate organisms greatly contributed to such studies. Here we provide an overview of the studies of laminopathies in Drosophila and C. elegans models.
核纤层蛋白是进化上保守的核中间丝蛋白。它们为核提供结构支持，并有助于调节许多其他核活动。人类核纤层蛋白基因，特别是 LMNA 基因的突变会导致许多疾病，称为核纤层病，包括肌肉、心脏、代谢、神经和早老性疾病。大多数核纤层病是由常染色体显性错义突变引起的。线虫秀丽隐杆线虫和果蝇黑腹果蝇的核纤层基因中存在许多保守的突变残基。我们目前对导致这些疾病的机制的理解主要基于患者细胞系和动物模型，包括秀丽隐杆线虫和果蝇。这些无脊椎动物提供的更简单的核纤层系统和强大的遗传工具极大地促进了这些研究。本文概述了果蝇和秀丽隐杆线虫模型中核纤层病的研究。
