中国神经再生研究(英文版) ›› 2023, Vol. 18 ›› Issue (3): 497-502.doi: 10.4103/1673-5374.350194

• 综述:脑损伤修复保护与再生 • 上一篇    下一篇

共济失调-毛细血管扩张突变在小脑完整性和功能中起重要作用

  

  • 出版日期:2023-03-15 发布日期:2022-08-25

Ataxia-telangiectasia mutated plays an important role in cerebellar integrity and functionality

Yulia Mitiagin1, Ari Barzilai1, 2, *   

  1. 1Department of Neurobiology, the School of Neurobiology, Biophysics, Molecular Biology and Biochemistry, George S. Wise, Faculty of Life Sciences, Tel Aviv University, Tel Aviv, Israel; 2Sagol School of Neurosciences, Tel Aviv University, Tel Aviv, Israel
  • Online:2023-03-15 Published:2022-08-25
  • Contact: Ari Barzilai, PhD, arib@tauex.tau.ac.il.

摘要: https://orcid.org/0000-0002-8133-463X (Ari Barzilai)

Abstract: Accumulating evidence indicates that ataxia-telangiectasia mutated kinase is critical for maintaining cellular homeostasis and that it has both nuclear and cytoplasmic functions. However, the functions of ataxia-telangiectasia mutated that when lost lead to cerebellar degeneration are still unknown. In this review, we first describe the role of ataxia-telangiectasia mutated in cerebellar pathology. In addition to its canonical nuclear functions in DNA damage response circuits, ataxia-telangiectasia mutated functions in various cytoplasmic and mitochondrial processes that are critically important for cellular homeostasis. We discuss these functions with a focus on the role of ataxia-telangiectasia mutated in maintaining the homeostatic redox state. Finally, we describe the unique functions of ataxia-telangiectasia mutated in various types of neuronal and glial cells including cerebellar granule neurons, astrocytes, and microglial cells. 

Key words: ataxia telangiectasia, ATM, cerebellum, DNA damage response, double-strand breaks, mitochondrial dysfunction, oxidative stress, single-strand breaks