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Identification of rare paired box 3 variant in strabismus by whole exome sequencing

International Journal of Ophthalmology(English edition) 2017年第8期10卷 1223-1228页

作者： Hui-Min Gong Jing Wang Jing Xu Zhan- Yu Zhou Jing- Wen Li Shu-Fang Chen Ophthalmologic Center Qingdao Municipal Hospital theAffiliated Municipal Hospital of Qingdao University Qingdao266000 Shandong Province China Department of Ophthalmology Dezhou People's HospitalDezhou 253000 Shandong Province China Department of Ophthalmology Weifang People's HospitalWeifang 261041 Shandong Province China Department of Medical Equipment Weifang People's Hospital Weifang 261041 Shandong Province China

AIM： To identify the potentially pathogenic gene variants that contributes to the etiology of strabismus. METHODS： A Chinese pedigree with strabismus was collected and the exomes of two affected individuals were sequenced using the next-generation sequencing technology. The resulting variants from exome sequencing were filtered by subsequent bioinformatics methods and the candidate mutation was verified as heterozygous in the affected proposita and her mother by sanger sequencing. RESULTS： Whole exome sequencing and filtering identified a nonsynonymous mutation Co434G-T transition in paired box 3 （PAX3） in the two affected individuals, which were predicted to be deleterious by more than 4 bioinformatics programs. This altered amino acid residue was located in the conserved PAX domain of PAX3. This gene encodes a member of the PAX family of transcription factors, which play critical roles during fetal development. Mutations in PAX3 were associated with Waardenburg syndrome with strabismus. CONCLUSION： Our results report that the c.434G-T mutation （p.R145L） in PAX3 may contribute to strabismus, expanding our understanding of the causally relevant genes for this disorder.

关键词： strabismus whole exome sequencing paired box 3

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Adenosine monophosphate-activated protein kinase activation enhances embryonic neural stem cell apoptosis in a mouse model of amyotrophic lateral sclerosis

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Neural Regeneration Research 2014年第19期9卷 1770-1778页

作者： Yanling Sui Zichun Zhao Rong Liu Bin Cai Dongsheng Fan Department of Neurology Peking University Third Hospital

Alterations in embryonic neural stem cells play crucial roles in the pathogenesis of amyotrophic lateral sclerosis. We hypothesized that embryonic neural stem cells from SOD1G93A individuals might be more susceptible to oxidative injury, resulting in a propensity for neurodegeneration at later stages. In this study, embryonic neural stem cells obtained from human superoxide dis- mutase 1 mutant （SOD1G93A） and wild-type （SOD1wv） mouse models were exposed to H202. We assayed cell viability with mitochondrial succinic dehydrogenase colorimetric reagent, and measured cell apoptosis by flow cytometry. Moreover, we evaluated the expression of the adenos- ine monophosphate-activated protein kinase （AMPK） ct-subunit, paired box 3 （Pax3） protein, and p53 in western blot analyses. Compared with SOD1wr cells, SOD1~93A embryonic neural stem cells were more likely to undergo H202-induced apoptosis. Phosphorylation of AMPKct in SOD1G93A cells was higher than that in SOD1wr cells. Pax3 expression was inversely correlated with the phosphorylation levels of AMPKct. p53 protein levels were also correlated with AMPKct phosphorylation levels. Compound C, an inhibitor of AMPKa, attenuated the effects of H20~. These results suggest that embryonic neural stem cells from SOD1C93A mice are more susceptible to apoptosis in the presence of oxidative stress compared with those from wild-type controls, and the effects are mainly mediated by Pax3 and p53 in the AMPKa pathway.

关键词： nerve regeneration neuroderegeneration embryonic neural stem cells adenosine mo-nophosphate-activated protein kinase a paired box 3 p53 SOD1~93A mouse amyotrophic lateralsclerosis oxidative stress hydrogen peroxide apoptosis NSFC grants neural regeneration

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