Mitochondria in Huntington's disease: implications in pathogenesis and mitochondrial-targeted therapeutic strategies
Anamaria Jurcau1
Carolina Maria Jurcau2
1.Department of Psycho-Neurosciences and Rehabilitation,Faculty of Medicine and Pharmacy,University of Oradea,Oradea,Romania;Neurology 3 Ward,Clinical Emergency Hospital Oradea,Romania;Neurology 3 Department,Clinical Emergency Hospital Oradea,410154 L.Pasteur Street nr 26,Romania2.Faculty of Medicine and Pharmacy,University of Oradea,Romania
摘要：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.
机标关键词：huntingtonstrategiesdiseaseimplicationsmitochondrialpathogenesistargetedtherapeutic
论文发表日期：2023-07-28
在线出版日期：2025-08-15（本平台首次上网日期，不代表文献的发表时间）
页数：6( 1472-1477 )
英文信息