Proton Magnetic Resonance Spectroscopy in 22q11 Deletion Syndrome
Proton Magnetic Resonance Spectroscopy in 22q11 Deletion Syndrome
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DOI：
10.1371/journal.pone.0021685
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发表时间：
2011-06-30
期刊：
影响因子：
3.7
通讯作者：
van Amelsvoort, Therese
中科院分区：
文献类型：
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作者：
Alves, Fabiana da Silva;Boot, Erik;van Amelsvoort, Therese
目的：V-心面综合征或22q11缺失综合征(22q11DS)患者存在行为、认知和精神方面的问题。大约30%的受影响个人会患上精神分裂样精神病。谷氨酸功能障碍被认为在精神分裂症中起着关键作用。然而，目前还不清楚22q11DS中谷氨酸系统是否以及如何改变。携带22q11DS的人容易患单倍体缺乏症，这是一种编码将脯氨酸转化为谷氨酸的酶的基因。方法：采用质子磁共振波谱(H-MRS)对22例有22q11DS精神分裂症(22q11DS SCZ+)和22例非22q11DS精神分裂症(22q11DS SCZ-)患者和23例年龄匹配的健康人的背外侧前额叶皮质(DLPFC)和海马区谷氨酸等神经代谢产物进行定量研究。结果：我们发现22q11DS SCZ+组大鼠海马区谷氨酸和肌醇浓度显著高于22q11DS SCZ-组。22q11DS SCZ+组与22q11DS SCZ-组血浆Pro水平差异无统计学意义。22q11DS患者血浆脯氨酸水平与脑谷氨酸水平无相关性。结论：这是首次对22q11DS患者进行H-1-MRS研究。我们的结果提示海马区在22q11DS SCZ+的精神病理中的脆弱性。海马谷氨酸和肌醇代谢的改变可能部分解释了这组患者的精神病症状和认知障碍。
Objective: People with velo-cardio-facial syndrome or 22q11 deletion syndrome (22q11DS) have behavioral, cognitive and psychiatric problems. Approximately 30% of affected individuals develop schizophrenia-like psychosis. Glutamate dysfunction is thought to play a crucial role in schizophrenia. However, it is unknown if and how the glutamate system is altered in 22q11DS. People with 22q11DS are vulnerable for haploinsufficiency of PRODH, a gene that codes for an enzyme converting proline into glutamate. Therefore, it can be hypothesized that glutamatergic abnormalities may be present in 22q11DS.Method: We employed proton magnetic resonance spectroscopy (H-1-MRS) to quantify glutamate and other neurometabolites in the dorsolateral prefrontal cortex (DLPFC) and hippocampus of 22 adults with 22q11DS (22q11DS SCZ+) and without (22q11DS SCZ-) schizophrenia and 23 age-matched healthy controls. Also, plasma proline levels were determined in the 22q11DS group.Results: We found significantly increased concentrations of glutamate and myo-inositol in the hippocampal region of 22q11DS SCZ+ compared to 22q11DS SCZ-. There were no significant differences in levels of plasma proline between 22q11DS SCZ+ and 22q11DS SCZ-. There was no relationship between plasma proline and cerebral glutamate in 22q11DS.Conclusion: This is the first in vivo H-1-MRS study in 22q11DS. Our results suggest vulnerability of the hippocampus in the psychopathology of 22q11DS SCZ+. Altered hippocampal glutamate and myo-inositol metabolism may partially explain the psychotic symptoms and cognitive impairments seen in this group of patients.