One carbon metabolism disturbances and the C677T MTHFR gene polymorphism in children with autism spectrum disorders.
One carbon metabolism disturbances and the C677T MTHFR gene polymorphism in children with autism spectrum disorders.
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DOI：
10.1111/j.1582-4934.2008.00463.x
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发表时间：
2009-10
影响因子：
5.3
通讯作者：
Dronca M
中科院分区：
文献类型：
--
作者：
Paşca SP;Dronca E;Kaucsár T;Craciun EC;Endreffy E;Ferencz BK;Iftene F;Benga I;Cornean R;Banerjee R;Dronca M
自闭症谱系障碍 (ASD) 包括原型自闭症 (AD)、阿斯伯格综合症 (AS) 和未明确说明的广泛性发育障碍 (PDD-NOS)，是病因不明的复杂神经发育病症。目前的研究调查了三组诊断为 AD (n = 15)、AS (n = 5) 和 PDD-NOS (n = 19) 的儿童及其年龄和性别匹配的对照 (n = 25) 中蛋氨酸循环、转硫途径、叶酸、维生素 B12 和 MTHFR 基因 C677T 多态性的代谢物。 AS患者未发现代谢紊乱，而AD组和PDD-NOS组血浆蛋氨酸（分别P=0.01和P=0.03）和α-氨基丁酸水平较低（分别P=0.01和P=0.001）。仅在AD组中，发现血浆半胱氨酸（P=0.02）和血液总谷胱甘肽（P=0.02）降低。尽管 AD 患者的丝氨酸、甘氨酸、N,N-二甲基甘氨酸水平有降低的趋势，但这些代谢物的血浆水平以及同型半胱氨酸和胱硫醚水平在任何 ASD 组中都没有统计学差异。血清维生素 B12 和叶酸水平在正常范围内。 MTHFR基因分析结果显示，ASD儿童中C677T多态性呈正态分布，但AD患者中677T等位基因的频率稍高一些。我们的研究表明单碳代谢的改变在 ASD 病理生理学中可能发挥作用，并首次为 ASD 临床亚型之间的代谢和遗传差异提供了初步证据。
Autism spectrum disorders (ASDs), which include the prototypic autistic disorder (AD), Asperger’s syndrome (AS) and pervasive developmental disorders not otherwise specified (PDD-NOS), are complex neurodevelopmental conditions of unknown aetiology. The current study investigated the metabolites in the methionine cycle, the transsulphuration pathway, folate, vitamin B12 and the C677T polymorphism of the MTHFR gene in three groups of children diagnosed with AD (n= 15), AS (n= 5) and PDD-NOS (n= 19) and their age- and sex-matched controls (n= 25). No metabolic disturbances were seen in the AS patients, while in the AD and PDD-NOS groups, lower plasma levels of methionine (P= 0.01 and P= 0.03, respectively) and α-aminobutyrate were observed (P= 0.01 and P= 0.001, respectively). Only in the AD group, plasma cysteine (P= 0.02) and total blood glutathione (P= 0.02) were found to be reduced. Although there was a trend towards lower levels of serine, glycine, N, N-dimethylglycine in AD patients, the plasma levels of these metabolites as well as the levels of homocysteine and cystathionine were not statistically different in any of the ASDs groups. The serum levels of vitamin B12 and folate were in the normal range. The results of the MTHFR gene analysis showed a normal distribution of the C677T polymorphism in children with ASDs, but the frequency of the 677T allele was slightly more prevalent in AD patients. Our study indicates a possible role for the alterations in one carbon metabolism in the pathophysiology of ASDs and provides, for the first time, preliminary evidence for metabolic and genetic differences between clinical subtypes of ASDs.
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影响因子：
6.3
作者：
CLARKSON, TW;NORDBERG, GF;SAGER, PR
通讯作者：
SAGER, PR
影响因子：
2.6
作者：
Adams, JB;George, F;Audhya, T
通讯作者：
Audhya, T
DOI：
10.1016/j.pathophys.2006.05.007
发表时间：
2006-08-01
期刊：
Pathophysiology : the official journal of the International Society for Pathophysiology
影响因子：
--
作者：
Chauhan, Abha;Chauhan, Ved
通讯作者：
Chauhan, Ved
影响因子：
3.7
作者：
Geier, David A.;Geier, Mark R.
通讯作者：
Geier, Mark R.
DOI：
10.1080/15287390701457712
发表时间：
2007-01-01
影响因子：
2.6
作者：
Geier, David A.;Geier, Mark R.
通讯作者：
Geier, Mark R.