Transcriptome analysis of IPSC and NPC, derived from twins, discordant by PD. Transcriptome analysis of IPSC and NPC, derived from twins, discordant by PD

This submission contains a result of a study of transcriptiomic profiles of the IPSC and NPC, derived from PD discordant monozygous twins. Overall design: Examination of transcriptiomic profiles of the IPSC and NPC, derived from PD discordant monozygous twins. Two pairs of phenotypically and genetically monozygotic twins discordant for PD were enrolled in the study. These individuals (of Russian ethnic origin and residing in European Russia) were diagnosed at the State Public Health Institution Primorsk Regional Clinical Hospital No. 1 and did not have any family history of PD. The participants were assessed according to the International Parkinson and Movement Disorder Society-sponsored Unified Parkinson?s Disease Rating Scale and Hoehn?Yahr scores. The diagnosis of PD was based on the UK Parkinson?s Disease Society Brain Bank criteria. Patients were at stages 2?4 of the Hoehn?Yahr scale and had a mixed form of PD. The disease duration was at least 7 years. The healthy siblings did not have any signs of PD at the time of collection of the biological material. The twins lived in the same area, and their work was not associated with dangerous factors, such as pesticides or heavy metals. There was no information about the presence of head injuries in their history.

本提交内容包含一项针对帕金森病（Parkinson's Disease, PD）表型不一致同卵双胞胎来源的诱导多能干细胞（Induced Pluripotent Stem Cells, IPSC）与神经前体细胞（Neural Progenitor Cells, NPC）转录组谱的研究成果。
研究设计总览：本研究聚焦PD表型不一致同卵双胞胎来源的IPSC与NPC转录组谱分析。本研究共纳入2对表型与遗传背景均一致的PD表型不一致同卵双胞胎，所有受试者均为俄罗斯族裔，居住于俄罗斯欧洲区域，于普里莫尔斯克州立公共卫生机构第一临床医院确诊，且无帕金森病家族史。受试者采用国际帕金森与运动障碍学会（International Parkinson and Movement Disorder Society）推荐的统一帕金森病评定量表及霍恩-雅尔评分进行评估。PD诊断依据英国帕金森病协会脑库诊断标准。患病双胞胎的霍恩-雅尔分期为2~4期，且为混合型帕金森病，病程至少7年。健康同胞在采集生物样本时未表现出任何PD相关临床体征。双胞胎二人居住于同一区域，职业未接触农药、重金属等致病危险因素，既往病史中无头部外伤相关记录。