Mitochondria replacement from transplanted amniotic fluid stem cells:a promising therapy for non-neuronal defects in spinal muscular atrophy  

作　　者：Michela Pozzobon Camilla Bean 

机构地区：[1]Women’s and Children’s Health Department,University of Padova [2]Foundation Institute of Pediatric Research Cittàdella Speranza,Padova,Italy [3]Department of Medicine,University of Udine,Udine,Italy

出　　处：《Neural Regeneration Research》2024年第5期971-972,共2页中国神经再生研究（英文版）

基　　金：supported by AFM-Telethon2013/Project 16662(to CB).

摘　　要：Spinal muscular atrophy(SMA)is a genetic disorder that primarily affects infants and leads to muscle weakness,atrophy,and paralysis.The main cause is the homozygous mutation or deletion of the SMN1 gene,resulting in inadequate levels of the survival motor neuron(SMN)protein.Approved treatments focus on restoring SMN levels through various approaches,but there is a need for“SMN-independent”therapies that target other pathological processes.Skeletal muscle is closely involved in SMA pathology,with impaired muscle function observed before motor neuron degeneration.Studies have revealed that SMN loss leads to skeletal muscle mitochondrial structural abnormalities,impaired respiration,and accumulation of reactive oxygen species.

关 键 词：IMPAIRED ATROPHY MUSCULAR 

分 类 号：R744.8[医药卫生—神经病学与精神病学]