2019 Fiscal Year Final Research Report
Examination of the Findings Suggesting Niemann–Pick Disease Type C in Patients with Schizophrenia
| Project/Area Number |
17K10282
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| Research Category |
Grant-in-Aid for Scientific Research (C)
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| Allocation Type | Multi-year Fund |
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| Section | 一般 |
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| Research Field |
Psychiatric science
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| Research Institution | Shiga University of Medical Science (2019)
Dokkyo Medical University (2017-2018) |
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Principal Investigator |
Fujii Kumiko 滋賀医科大学, 医学部, 准教授 (70314151)
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| Co-Investigator(Kenkyū-buntansha) |
尾關 祐二 滋賀医科大学, 医学部, 教授 (90303768)
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| Project Period (FY) |
2017-04-01 – 2020-03-31
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| Keywords | 統合失調症 / ニーマンピック病C型 |
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| Outline of Final Research Achievements |
We measured the bile acid content in urine using liquid chromatography/mass spectrometry and serum oxysterol using quadrupole time-of-flight liquid chromatography/mass spectrometry in the patients with neurological symptoms. We analyzed NPC1 and NPC2 genes using Ion PGM in the patients with schizophrenia also without neurological symptoms. mRNA expression levels of NPC1 and NPC2 were measured and analyzed in patients with schizophrenia and healthy controls using TaqMan method and semi-quantitative assessment with beta-actin was performed.
One patient had significantly high biological marker levels for NPC. In patients with schizophrenia, we found a new single nucleotide polymorphism (SNP) that induces amino acid substitution. mRNA expression levels of NPC1 and NPC2 in patients with schizophrenia were significantly higher than those in normal controls.Further investigations are required to reveal the significance of the new SNP and the differences in mRNA expression levels.
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| Free Research Field |
精神医学
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| Academic Significance and Societal Importance of the Research Achievements |
統合失調症患者の治療中にジストニアなどの不随意運動が出現した際には、抗精神病薬の副作用と判断することが多く、ニーマンピック病Ｃ型（NPC）を念頭において鑑別を行うことは少ないのが現状である。しかし、我々は統合失調症と診断されている症例の中に、細胞内にコレステロールが沈着している症例やNPCのバイオマーカーといわれる物質が異常値を示す症例、遺伝子変異を伴う症例がいること、ｍRNA の発現量が有意に統合失調症で高値であることも明らかとなった。それらの意味合いを明らかにするには更なる研究が必要であるが、統合失調症と診断されている症例の中にNPCの可能性を踏まえた視点での診療が重要であると考えられた。
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