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神经发育回归的生物能量特征

Richard E Frye¹, Patrick J McCarty², Brianna A Werner³

¹Autism Discovery and Treatment Foundation, Phoenix, AZ, United States.

Frontiers in physiology

|March 7, 2024

概括

患有自闭症谱系障碍 (ASD) 和神经发育回归 (NDR) 的儿童表现出独特的线粒体功能障碍. 针对线粒体健康的早期识别和干预可能会在有风险的儿童中预防NDR.

科学领域:

神经科学是一个神经科学.
遗传学遗传学是一个
生物化学生物化学

背景情况:

自闭症谱系障碍 (ASD) 与生理异常有关,包括线粒体功能障碍.
线粒体功能障碍可能与患有神经发育回归 (NDR) 的ASD儿童的一个子集有关.
自闭症的细胞模型揭示了对生理压力敏感的线粒体呼吸率升高,反映了自闭症与NDR的特征.

研究的目的:

调查ASD儿童的线粒体呼吸模式,有或没有NDR史的儿童.
为了比较ASD个体及其家庭成员 (父母,兄弟姐妹) 的线粒体功能.
探索在ASD中线粒体功能障碍的潜在遗传性和早期标志物.

主要方法:

线粒体呼吸在26名没有NDR (ASD-NoNDR) 的ASD儿童和15名具有NDR (ASD-NDR) 的ASD儿童的外周血液单核细胞 (PBMC) 中测量.
在分析之前,PBMCs使用2,3-dimethoxy-1,4-napthoquinone进行了生理应激.
参与者包括来自34个家庭的父母和典型发育 (TD) 兄弟姐妹.

主要成果:

与ASD-NDR儿童相比,ASD-NDR儿童表现出更高的线粒体呼吸率和对生理压力的敏感性增加.
ASD-NDR儿童父母的线粒体呼吸模式与他们的孩子相似,这表明潜在的遗传因素.
在自闭症儿童和他们的父母中观察到线粒体呼吸的性别和年龄相关差异.

结论:

患有ASD和NDR的儿童可能具有独特的线粒体生理学,使他们容易受到生理压力.
在NDR发作之前早期检测这些线粒体变化,可以实现保护性干预.
观察到的父母线粒体模式表明可能的遗传或表观遗传联系,或共享的环境因素.

关键词:

年龄影响年龄影响.自闭症自闭症是什么线粒体中的线粒体.神经发育回归的回归性效应性效应的性别效应.

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