Department of Biochemistry, Complutense University, Madrid, Spain.
Mechanisms of Insulin Resistance (MOIR2), General Direction of Universities and Investigation (CCMM), Madrid, Spain.
Aging (Albany NY). 2022 Mar 8;14(5):2047-2061. doi: 10.18632/aging.203943.
Hutchinson-Gilford Progeria Syndrome is an ultrarare disease which is characterized by an accelerated senescence phenotype with deleterious consequences to people suffering this pathology. The production of an abnormal protein derived from lamin A, called progerin, presents a farnesylated domain, which is not eliminated by the causal mutation of the disease, and accumulates in the interior of the nucleus, provoking a disruption of nuclear membrane, chromatin organization and an altered gene expression. The mutation in these patients occurs in a single nucleotide change, which creates a de novo splicing site, producing a shorter version of the protein. Apart from this mutation, an alteration in the metalloproteinase Zmpste24, involved in the maturation of lamin A, causing a similar alteration than in progeria. However, in this case, patients accumulate a protein, called prelamin A, which generates similar alterations in the nucleus than progerin. The reduction of prelamin A protein levels facilitates the recovery of the phenotype in different mice models of the disease, reducing the aging process. Different strategies have been studied for eliminating this toxic protein. Here, we report that immortalization of primary cells derived from the Zmpste24 KO mice, facilitates prelamin A degradation by different mechanisms, being essential, the enhancing proliferative capacity that the immortalized cells present. Then, these data suggest that using different treatments for increasing proliferative capacity of these cells, potentially could have a beneficial effect, facilitating prelamin A toxicity.
亨廷顿舞蹈病-吉福德早衰综合征是一种超罕见疾病,其特征是衰老表型加速,患有这种疾病的人会受到有害影响。由核纤层蛋白 A 衍生的异常蛋白称为早衰蛋白,具有法尼基化结构域,该结构域不会被疾病的致病突变消除,并在内核中积累,引起核膜破裂、染色质组织改变和基因表达改变。这些患者的突变发生在单个核苷酸变化中,该变化创建了一个新的剪接位点,产生了蛋白的较短版本。除了这种突变外,还存在一种参与核纤层蛋白 A 成熟的金属蛋白酶 Zmpste24 的改变,导致与早衰症相似的改变。然而,在这种情况下,患者会积累一种称为前核纤层蛋白 A 的蛋白质,它会在核中产生与早衰蛋白相似的改变。降低前核纤层蛋白 A 蛋白水平有助于在不同的疾病小鼠模型中恢复表型,减缓衰老过程。已经研究了多种消除这种毒性蛋白的策略。在这里,我们报告 Zmpste24 KO 小鼠来源的原代细胞的永生化,通过不同的机制促进前核纤层蛋白 A 的降解,其中增强永生化细胞的增殖能力是至关重要的。然后,这些数据表明,使用不同的治疗方法来增加这些细胞的增殖能力,可能会产生有益的效果,从而减轻前核纤层蛋白 A 的毒性。