Department of Genetics, Albert Einstein College of Medicine, New York, NY, USA.
Yale Brain Tumor Center, Smilow Cancer Hospital, New Haven, CT, USA.
Chromosome Res. 2023 Nov 1;31(4):32. doi: 10.1007/s10577-023-09740-w.
This review investigates the role of aneuploidy and chromosome instability (CIN) in the aging brain. Aneuploidy refers to an abnormal chromosomal count, deviating from the normal diploid set. It can manifest as either a deficiency or excess of chromosomes. CIN encompasses a broader range of chromosomal alterations, including aneuploidy as well as structural modifications in DNA. We provide an overview of the state-of-the-art methodologies utilized for studying aneuploidy and CIN in non-tumor somatic tissues devoid of clonally expanded populations of aneuploid cells.CIN and aneuploidy, well-established hallmarks of cancer cells, are also associated with the aging process. In non-transformed cells, aneuploidy can contribute to functional impairment and developmental disorders. Despite the importance of understanding the prevalence and specific consequences of aneuploidy and CIN in the aging brain, these aspects remain incompletely understood, emphasizing the need for further scientific investigations.This comprehensive review consolidates the present understanding, addresses discrepancies in the literature, and provides valuable insights for future research efforts.
本文综述了非整倍体和染色体不稳定性(CIN)在衰老大脑中的作用。非整倍体是指染色体数目异常,偏离正常的二倍体。它可以表现为染色体的缺乏或过多。CIN 涵盖了更广泛的染色体改变,包括非整倍体以及 DNA 的结构修饰。我们概述了用于研究非肿瘤性体组织中非整倍体细胞克隆扩增群体中染色体不稳定性和非整倍体的最新方法。CIN 和非整倍体是非癌细胞的标志性特征,也与衰老过程有关。在未转化的细胞中,非整倍体可能导致功能障碍和发育障碍。尽管了解衰老大脑中非整倍体和 CIN 的普遍性和特定后果非常重要,但这些方面仍未得到充分理解,这强调了进一步开展科学研究的必要性。本综述综合了目前的认识,解决了文献中的差异,并为未来的研究工作提供了有价值的见解。