中文摘要
背景目的：端粒长度和线粒体DNA拷贝数是细胞老化及反应细胞内氧化应激累积负荷的生物标志物, 其改变能灵敏的反应出细胞内端粒和线粒体的功能状态。研究表明端粒长度和线粒体DNA拷贝数的异常改变与个体的躯体及精神健康状况相关。方法：本研究旨在对儿童孤独症（Autism）与外周血细胞端粒长度及线粒体DNA拷贝数的相关性进行探讨。收集儿童孤独症确诊患者110例，并收集129例健康儿童为对照组，应用实时荧光定量PCR（qPCR）方法检测所有受试者外周血细胞的相对端粒长度以及其中78例患者和83例健康对照的外周血细胞的线粒体DNA拷贝数。结果：相较于健康对照组，孤独症患者组的端粒长度显著缩短,而其外周血细胞的线粒体DNA拷贝数异常升高; 相关性分析发现孤独症患者的外周血细胞的端粒长度及线粒体DNA拷贝数与患者的临床症状的严重程度（CARS）之间不存在显著地相关性。结论：儿童孤独症的端粒长度及线粒体DNA拷贝数存在异常改变，提示孤独症患者的端粒及线粒体的功能可能存在异常。
英文摘要
Background: Telomere length and mitochondrial DNA (mtDNA) copy number are two well-known biomarkers for detecting cellular aging and cumulative load of cellular oxidative stress. In addition, the changes of telomere length and mtDNA copy number may represent the functional status of telomere and mitochondria in individuals respectively. Emerging evidence documents telomere length and mtDNA copy number associated with some medical and psychiatric conditions. Our aim of this study was to evaluate if a change of telomere length or mtDNA copy number in peripheral blood cells from childhood autism or not. Method: A total of 110 autism patients and 129 healthy controls were recruited in this study. The telomere length was measured by qPCR in all subjects and a subset of 78 patients and 83 healthy controls also conducted the mtDNA copy number measurements. Result: We observed significantly shorter telomere length and higher mtDNA copy number in patients with childhood autism in comparison with healthy controls. However, we observed no association of telomere length and mtDNA copy number with autistic symptoms severity (CARS). Conclusion: There are aberrant alterations of telomere length and mtDNA copy number in childhood autism, indicating that patients with childhood autism may have potential dysfunction in telomere and mitochondria.
结题摘要
背景目的：端粒长度和线粒体DNA拷贝数是细胞老化及反应细胞内氧化应激累积负荷的生物标志物, 其改变能灵敏的反应出细胞内端粒和线粒体的功能状态。研究表明端粒长度和线粒体DNA拷贝数的异常改变与个体的躯体及精神健康状况相关。方法：本研究旨在对儿童孤独症（Autism）与外周血细胞端粒长度及线粒体DNA拷贝数的相关性进行探讨。收集儿童孤独症确诊患者110例，并收集129例健康儿童为对照组，应用实时荧光定量PCR（qPCR）方法检测所有受试者外周血细胞的相对端粒长度以及其中78例患者和83例健康对照的外周血细胞的线粒体DNA拷贝数。结果：相较于健康对照组，孤独症患者组的端粒长度显著缩短,而其外周血细胞的线粒体DNA拷贝数异常升高; 相关性分析发现孤独症患者的外周血细胞的端粒长度及线粒体DNA拷贝数与患者的临床症状的严重程度（CARS）之间不存在显著地相关性。结论：儿童孤独症的端粒长度及线粒体DNA拷贝数存在异常改变，提示孤独症患者的端粒及线粒体的功能可能存在异常。