Decreased levels of γ-aminobutyric acid in temporal lobe of children with 47,XYY syndrome.
Decreased levels of γ-aminobutyric acid in temporal lobe of children with 47,XYY syndrome.
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DOI：
10.1097/wnr.0000000000001628
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发表时间：
2021-05-05
期刊：
影响因子：
1.7
通讯作者：
Ross J
中科院分区：
文献类型：
--
作者：
Roberts TPL;Bloy L;Miller JS;Blaskey L;Ross J
XYY综合征（XYY）是一种男性性染色体疾病，其中受试者具有一条X染色体和两条Y染色体。XYY与身体表型相关，并增加了神经发育障碍的风险，如自闭症谱系障碍（ASD）。兴奋和抑制的不平衡被认为是ASD等疾病的生物学基础，一些研究报告了该人群中的非典型脑GABA水平。鉴于ASD的患病率男性占优势，Y染色体在男性中的独特存在导致了将患有XYY综合征的男孩作为过量Y染色体基因的模型进行调查的有趣可能性。在这项研究中，我们调查了基因型和临床表型与GABA水平的相关性，通过与年龄匹配的典型发育（XY）同龄人相比，对患有47，XYY综合征的男孩进行局部编辑磁共振波谱分析。总的来说，我们观察到XYY与XY的GABA水平下降，与右半球相比，左半球的GABA水平下降更明显。根据ASD诊断的存在/不存在，XYY中的GABA水平没有额外的显著调节。有趣的是，在青春期XY男孩中观察到双侧GABA水平和睾酮水平之间的正相关性，而在XYY中没有观察到。抑制性神经递质GABA似乎在47，XYY男孩中减少，特别是在左半球。此外，在年龄较大的正常发育对照组男孩中观察到的GABA和睾酮水平之间的典型关联在47，XYY男孩中不明显。
47,XYY syndrome (XYY) is a male sex chromosome disorder where subjects have one X chromosome and two copies of the Y chromosome. XYY is associated with a physical phenotype and carries increased risk of neurodevelopmental disorders such as autism spectrum disorder (ASD). Imbalance of excitation and inhibition has been proposed as a putative biological basis of disorders such as ASD and several studies have reported atypical brain GABA levels in this population. Given the male preponderance in prevalence of ASD, the unique presence of the Y chromosome in males leads to the intriguing possibility of investigating boys with XYY syndrome as a model of excess Y chromosome genes. In this study, we investigated the associations of genotype and clinical phenotype with levels of GABA, estimated by regionally localized edited magnetic resonance spectroscopy in boys with 47, XYY syndrome compared to age matched typically developing (XY) peers. Overall, we observed a decrease in GABA levels in XYY vs XY, which appeared more significant in the left compared to the right hemisphere. There was no additional significant modulation of GABA levels in XYY according to presence/absence of ASD diagnosis. Interestingly, a positive correlation between bilateral GABA levels and testosterone levels was observed in pubescent XY boys that was not observed in XYY. The inhibitory neurotransmitter GABA appears to be reduced in boys with 47,XYY, especially in the left hemisphere. Further the typical association between GABA and testosterone levels, observed in older typically developing control boys was not evident in boys with 47,XYY.