Zinc finger protein ZPR1:promising survival motor neuron protein-dependent modifier for the rescue of spinal muscular atrophy
Zinc finger protein ZPR1:promising survival motor neuron protein-dependent modifier for the rescue of spinal muscular atrophy作者机构:Center of Emphasis in NeurosciencesDepartment of Molecular and Translational MedicinePaul L.Foster School of MedicineTexas Tech University Health Sciences Center El PasoEl PasoTXUSA
出 版 物:《Neural Regeneration Research》 (中国神经再生研究(英文版))
年 卷 期:2022年第17卷第10期
页 面:2225-2227页
核心收录:
学科分类:0710[理学-生物学] 1002[医学-临床医学] 1001[医学-基础医学(可授医学、理学学位)] 100204[医学-神经病学] 10[医学]
基 金:supported by National Institutes of Health grant(R01 NS115834)awarded to LG supported by NIH Diversity Supplement(3R01NS115834-01A1S1).
主 题:atrophy degeneration Zinc
摘 要:neuromuscular disease caused by the homozygous mutation or deletion of the survival motor neuron 1(SMN1)gene.A second copy,SMN2,is similar to SMN1,but produces only~10%SMN protein because of a single-point mutation(CT)in coding exon 7 causing a splicing defect which leads to the exclusion of exon 7,resulting in a majority(~90%)of transcripts lacking exon 7 that translate into mutant SMN(SMNΔ7)protein.SMA is caused by chronic low levels of SMN and is characterized by the degeneration of the spinal cord motor neurons leading to symmetrical skeletal muscle atrophy,respiratory failure,and death(Ahmad et al.,2012).Chronic low levels of SMN cause the accumulation of pathogenic R-loops and double-stranded breaks(DSBs)in DNA,leading to genomic instability and neurodegeneration in SMA(Kannan et al.,2018).The severity of SMA disease correlates inversely with SMN levels.