中国神经再生研究(英文版) ›› 2023, Vol. 18 ›› Issue (7): 1472-1477.doi: 10.4103/1673-5374.360289

• 综述:退行性病与再生 • 上一篇    下一篇

亨廷顿病中的线粒体:发病机制和线粒体靶向治疗策略的意义

  


  • 出版日期:2023-07-15 发布日期:2023-01-11

Mitochondria in Huntington’s disease: implications in pathogenesis and mitochondrial-targeted therapeutic strategies

Anamaria Jurcau1, 2, *, †, Carolina Maria Jurcau3   

  1. 1Department of Psycho-Neurosciences and Rehabilitation, Faculty of Medicine and Pharmacy, University of Oradea, Oradea, Romania; 2Neurology 3 Ward, Clinical Emergency Hospital Oradea, Romania; 3Faculty of Medicine and Pharmacy, University of Oradea, Romania
    †Current address: Neurology 3 Department, Clinical Emergency Hospital Oradea, 410154 L. Pasteur Street nr 26, Romania
  • Online:2023-07-15 Published:2023-01-11
  • Contact: Anamaria Jurcau, MD, PhD, anamaria.jurcau@gmail.com.

摘要: https://orcid.org/0000-0002-0793-2877 (Anamaria Jurcau)

Abstract: Huntington’s disease is a genetic disease caused by expanded CAG repeats on exon 1 of the huntingtin gene located on chromosome 4. Compelling evidence implicates impaired mitochondrial energetics, altered mitochondrial biogenesis and quality control, disturbed mitochondrial trafficking, oxidative stress and mitochondrial calcium dyshomeostasis in the pathogenesis of the disorder. Unfortunately, conventional mitochondrial-targeted molecules, such as cysteamine, creatine, coenzyme Q10, or triheptanoin, yielded negative or inconclusive results. However, future therapeutic strategies, aiming to restore mitochondrial biogenesis, improving the fission/fusion balance, and improving mitochondrial trafficking, could prove useful tools in improving the phenotype of Huntington’s disease and, used in combination with genome-editing methods, could lead to a cure for the disease.

Key words: antioxidants, calcium homeostasis, Huntington’s disease, mitochondrial biogenesis, mitochondrial fission/fusion, mitochondrial trafficking, oxidative phosphorylation, oxidative stress, SS peptides, therapeutic intervention