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精神分裂症患者体内多种氨基酸浓度升高。杂合性效应的证据?

Increased concentrations of various amino acids in schizophrenic patients. Evidence for heterozygosity effects?

作者信息

Smeraldi E, Lucca A, Macciardi F, Bellodi L

出版信息

Hum Genet. 1987 Jun;76(2):138-40. doi: 10.1007/BF00284910.

DOI:10.1007/BF00284910
PMID:3610144
Abstract

The hypothesis is examined that heterozygosity for amino acid disorders (AAD) is a genetic component of susceptibility for schizophrenic psychoses. To detect possible heterozygotes, urinary and blood amino acid levels were analyzed in a sample of subjects with a diagnosis of schizophrenia and in their biological parents and compared with those of a sample of healthy volunteers. The results showed increased blood and urinary levels of certain amino acid in those patients who have at least one parent with the same amino acid abnormality. This finding points to the possibility of heterozygosity for AAD in schizophrenic patients.

摘要

研究了氨基酸紊乱(AAD)杂合性是精神分裂症易感性遗传成分的假说。为了检测可能的杂合子,对诊断为精神分裂症的受试者及其亲生父母的样本进行了尿和血氨基酸水平分析,并与健康志愿者样本进行了比较。结果显示,至少有一位父母存在相同氨基酸异常的患者,其血液和尿液中某些氨基酸水平升高。这一发现表明精神分裂症患者存在AAD杂合性的可能性。

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PLoS One. 2014 Jan 21;9(1):e85945. doi: 10.1371/journal.pone.0085945. eCollection 2014.

本文引用的文献

1
Differential diagnosis of (inherited) amino acid metabolism or transport disorders.(遗传性)氨基酸代谢或转运障碍的鉴别诊断。
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Genetic detection of cerebral dysfunction.脑功能障碍的基因检测
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Hyperasparaginemia in a schizophrenic patient.一名精神分裂症患者的高天冬酰胺血症。
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A study of plasma free amino acid levels. II. Normal values for children and adults.
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Plasma amino acids in relation to cerebrospinal fluid monoamine metabolites in schizophrenic patients and healthy controls.
Br J Psychiatry. 1985 Sep;147:276-82. doi: 10.1192/bjp.147.3.276.
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Estimating the genetic contribution to schizophrenia.
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Folate-responsive homocystinuria and "schizophrenia". A defect in methylation due to deficient 5,10-methylenetetrahydrofolate reductase activity.叶酸反应性同型胱氨酸尿症与“精神分裂症”。因5,10-亚甲基四氢叶酸还原酶活性不足导致的甲基化缺陷。
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9
Intellectual level (IQ) in heterozygotes for phenylketonuria (PKU). Is the PKU gene also acting by means other than phenylalanine-blood level elevation?苯丙酮尿症(PKU)杂合子的智力水平(智商)。PKU基因是否也通过除升高血液苯丙氨酸水平以外的其他方式起作用?
Hum Genet. 1977 Oct 14;38(3):285-8. doi: 10.1007/BF00402154.