Unit of Molecular Genetics of Aging, Department of Ecological and Biological Sciences, Università degli Studi della Tuscia, Viterbo, Italy.
Unit of Molecular Genetics of Aging, Department of Ecological and Biological Sciences, Università degli Studi della Tuscia, Viterbo, Italy.
Mech Ageing Dev. 2021 Apr;195:111466. doi: 10.1016/j.mad.2021.111466. Epub 2021 Mar 13.
When mutated, csa and csb genes are responsible of the complex phenotype of the premature aging Cockayne Syndrome (CS). Our working hypothesis is to reconcile the multiple cellular and molecular phenotypes associated to CS within the unifying molecular function of CSA and CSB proteins in the cascade of events leading to ubiquitin/proteasome-directed protein degradation, which occurs in processes as DNA repair, transcription and cell division. This achievement may reasonably explain the plethora of cellular UPS-regulated functions that result impaired when either CSA or CSB are mutated and suggestively explains part of their pleiotropic effect. This review is aimed to solicit the interest of the scientific community in further investigating this aspect, since we believe that the identification of the ubiquitin-proteasome machinery as a new potential therapeutic target, able to comprehensively face the different molecular aspects of CS, whether confirmed and corroborated by in vivo studies, would open a promising avenue to design effective therapeutic intervention.
当 CSA 和 CSB 基因突变时,它们负责导致早老性 Cockayne 综合征 (CS) 的复杂表型。我们的工作假设是,将 CSA 和 CSB 蛋白在导致泛素/蛋白酶体定向蛋白降解级联反应中的统一分子功能与 CS 相关的多种细胞和分子表型协调起来,该级联反应发生在 DNA 修复、转录和细胞分裂等过程中。这一发现可以合理地解释当 CSA 或 CSB 发生突变时,细胞 UPS 调节的众多功能受到损害的原因,并暗示解释了它们部分多效性效应的原因。这篇综述旨在引起科学界的兴趣,进一步研究这一方面,因为我们相信,将泛素-蛋白酶体机制鉴定为一个新的潜在治疗靶点,能够全面应对 CS 的不同分子方面,无论是否通过体内研究得到证实和支持,都将为设计有效的治疗干预措施开辟一条有希望的途径。