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自闭症谱系障碍及修饰表观遗传状态(DRD2 2137 T/T、MTRR 66 A/G、MTHFR 677 C/T、MTHFR 1298 A/C多态性)导致残疾患者的成功康复——病例报告

SUCCESSFUL REHABILITATION OF PATIENT DISABLED BY THE AUTISTIC SPECTRUM DISORDER AND THE MODIFIED EPIGENETIC STATUS (POLYMORPHISMS DRD2 2137 T/T, MTRR 66 A/G, MTHFR 677 C/T, MTHFR 1298 A/C) - CASE REPORT.

作者信息

Grechanina Yu, Bugaeva E, Lisniak S, Staruseva V, Shmulich O

机构信息

Kharkov National Medical University; Interregional specialized Medical Genetic Center - Center of Rare (Orphan) Diseases, Kharkov, Ukraine.

出版信息

Georgian Med News. 2019 May(290):124-127.

Abstract

Autism spectrum disorders (ASD) are considered an epidemic - only in the last 5 years the incidence of pathology has increased from 1: 166 to 1:68 children. The main role in the pathogenesis of ASD currently belongs to the violation of the epigenetic status in the form of gene polymorphisms. An example is the polymorphic variants of the genes of the folate-methionine cycle enzymes, which regulate the epigenetic status through a methylation process. The article presents a case of autism spectrum disorder against the background of impaired epigenetic status (metabolic dopamine neurotransmitters and the methylation cycle). Individually selected metabolic correction based on biochemical parameters allowed improving behavior, stimulating speech development, stopping long subfebrile and hypersalivation.

摘要

自闭症谱系障碍(ASD)被认为是一种流行病——仅在过去5年中,该病症的发病率就从每166名儿童中有1例增加到了每68名儿童中有1例。目前,ASD发病机制中的主要作用归因于以基因多态性形式存在的表观遗传状态的改变。例如,叶酸-蛋氨酸循环酶基因的多态性变体,它们通过甲基化过程调节表观遗传状态。本文介绍了一例在表观遗传状态受损(代谢多巴胺神经递质和甲基化循环)背景下的自闭症谱系障碍病例。根据生化参数进行的个体化代谢纠正有助于改善行为、促进语言发展、停止长期低热和流涎过多。

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