学科主题 | 基础医学 |
Argininosuccinate synthetase gene is silenced by CpG methylation in children with phenylketonuria | |
Li, Li1; Jin, ChunMei2; Ye, LiTao3; Shao, GenZe1; Wang, LiDe4; Lin, Ming1 | |
关键词 | ASS gene Phenylketonuria Methylation Arginine |
刊名 | CLINICAL BIOCHEMISTRY
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2013-12-01 | |
DOI | 10.1016/j.clinbiochem.2013.10.028 |
卷 | 46期:18页:1793-1797 |
收录类别 | SCI |
文章类型 | Article |
WOS标题词 | Science & Technology |
类目[WOS] | Medical Laboratory Technology |
研究领域[WOS] | Medical Laboratory Technology |
关键词[WOS] | NITRIC-OXIDE SYNTHASE ; L-ARGININE ; UREA CYCLE ; LYASE ; VASODILATATION ; CITRULLINE ; ORNITHINE ; ENZYMES ; SPERM ; ASSAY |
英文摘要 | Objectives: The concentration of tyrosine and the ratio of branch-amino acid to the aromatic amino acid in phenylketonuria (PKU) patients are much lower than that of normal people, which reveal that PKU patients have amino acid metabolism disorder. The aim of the present study was to investigate the arginine level in blood, the expression of argininosuccinate synthetase (ASS), the rate-limiting enzyme in arginine synthesis pathway, and the methylation of ASS in patients with PKU. Design and Methods: Twenty-five children with PKU and 65 healthy controls were investigated in this study. Blood concentration of arginine was analyzed by automatic amino acid analyzer. The methylation of ASS gene promoter was evaluated by using methylation-specific polymerase chain reaction (MSP) and bisulfite sequencing PCR (BSP) methods, and the mRNA level of ASS was evaluated by semi-quantitative RT-PCR. Results: Blood concentration of arginine in PKU patients without dietary control was 0.017 +/- 0.009 mmol/L while in normal persons was 0.129 +/- 0.007 mmol/L, which is statistically significant (P < 0.001). The promoter of ASS was methylated in MU (15/15, 100%) but not in normal persons (0/15). The mRNA level of ASS in PKU patients was lower than that of normal people, which was well correlated with its methylation status. Conclusions: The silencing of ASS due to aberrant promoter CpG methylation may be an important mechanism for arginine biosynthesis disorders in PKU. High levels of phenylalanine and low levels of arginine are common characteristics in PKU patients. These findings would extend the current understanding of arginine, ASS in the development of PKU disease. (C) 2013 The Canadian Society of Clinical Chemists. Published by Elsevier Inc. All rights reserved. |
语种 | 英语 |
WOS记录号 | WOS:000328596200004 |
Citation statistics | |
文献类型 | 期刊论文 |
条目标识符 | http://ir.bjmu.edu.cn/handle/400002259/59559 |
Collection | 北京大学基础医学院_细胞生物学系 |
作者单位 | 1.Peking Univ, Hlth Sci Ctr, Beijing 100191, Peoples R China 2.Yinchuan Maternal & Child Hlth Hosp, Yinchuan 750001, Peoples R China 3.Peking Univ, Sch Basic Med Sci, Dept Cell Biol, Beijing 100191, Peoples R China 4.Chinese Acad Agr Sci, Natl Key Facil Crop Gene Resources & Genet Improv, Beijing 100081, Peoples R China |
Recommended Citation GB/T 7714 | Li, Li,Jin, ChunMei,Ye, LiTao,et al. Argininosuccinate synthetase gene is silenced by CpG methylation in children with phenylketonuria[J]. CLINICAL BIOCHEMISTRY,2013,46(18):1793-1797. |
APA | Li, Li,Jin, ChunMei,Ye, LiTao,Shao, GenZe,Wang, LiDe,&Lin, Ming.(2013).Argininosuccinate synthetase gene is silenced by CpG methylation in children with phenylketonuria.CLINICAL BIOCHEMISTRY,46(18),1793-1797. |
MLA | Li, Li,et al."Argininosuccinate synthetase gene is silenced by CpG methylation in children with phenylketonuria".CLINICAL BIOCHEMISTRY 46.18(2013):1793-1797. |
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