Csoka Antonei B, English Sangeeta B, Simkevich Carl P, Ginzinger David G, Butte Atul J, Schatten Gerald P, Rothman Frank G, Sedivy John M
Department of Molecular Biology, Cell Biology and Biochemistry, Brown University, Providence, RI 02912, USA.
Aging Cell. 2004 Aug;3(4):235-43. doi: 10.1111/j.1474-9728.2004.00105.x.
Hutchinson-Gilford progeria syndrome (HGPS) is a rare genetic disease with widespread phenotypic features resembling premature aging. HGPS was recently shown to be caused by dominant mutations in the LMNA gene, resulting in the in-frame deletion of 50 amino acids near the carboxyl terminus of the encoded lamin A protein. Children with this disease typically succumb to myocardial infarction or stroke caused by severe atherosclerosis at an average age of 13 years. To elucidate further the molecular pathogenesis of this disease, we compared the gene expression patterns of three HGPS fibroblast cell strains heterozygous for the LMNA mutation with three normal, age-matched cell strains. We defined a set of 361 genes (1.1% of the approximately 33,000 genes analysed) that showed at least a 2-fold, statistically significant change. The most prominent categories encode transcription factors and extracellular matrix proteins, many of which are known to function in the tissues severely affected in HGPS. The most affected gene, MEOX2/GAX, is a homeobox transcription factor implicated as a negative regulator of mesodermal tissue proliferation. Thus, at the gene expression level, HGPS shows the hallmarks of a developmental disorder affecting mesodermal and mesenchymal cell lineages. The identification of a large number of genes implicated in atherosclerosis is especially valuable, because it provides clues to pathological processes that can now be investigated in HGPS patients or animal models.
哈钦森-吉尔福德早衰综合征(HGPS)是一种罕见的遗传性疾病,具有广泛的表型特征,类似于早衰。最近研究表明,HGPS是由LMNA基因的显性突变引起的,导致编码的核纤层蛋白A羧基末端附近有50个氨基酸的读码框内缺失。患有这种疾病的儿童通常在平均13岁时死于严重动脉粥样硬化引起的心肌梗死或中风。为了进一步阐明这种疾病的分子发病机制,我们将三种LMNA突变杂合的HGPS成纤维细胞系的基因表达模式与三种年龄匹配的正常细胞系进行了比较。我们定义了一组361个基因(约占所分析的33000个基因的1.1%),这些基因显示出至少2倍的、具有统计学意义的变化。最突出的类别编码转录因子和细胞外基质蛋白,其中许多已知在HGPS中受严重影响的组织中发挥作用。受影响最严重的基因MEOX2/GAX是一种同源框转录因子,被认为是中胚层组织增殖的负调节因子。因此,在基因表达水平上,HGPS显示出影响中胚层和间充质细胞谱系的发育障碍的特征。大量与动脉粥样硬化相关基因的鉴定特别有价值,因为它为现在可以在HGPS患者或动物模型中研究的病理过程提供了线索。
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