回顾性研究和定量蛋白质组学发现,血压、血脂和凝血相关蛋白的异常表达与尿道下裂有关。

IF 3.8 2区 生物学 Q2 GENETICS & HEREDITY
Kexin Zhang, Shengxiong Wang, Ying Qiu, Baoling Bai, Qin Zhang, Xianghui Xie
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引用次数: 0

摘要

尿道下裂是指男性尿道口位置异常,不仅会导致排尿障碍,还会在成年后引起性功能障碍。然而,尿道下裂的致病因素复杂多样,至今仍不清楚。为了研究尿道下裂的发病机制和预后,我们统计了尿道下裂患儿的血清学指标,发现轻度、中度和重度尿道下裂患儿的 sSBP、TC 和 LDL 均增高。随后,我们利用定量蛋白质组学发现了轻度、中度和重度尿道下裂的差异蛋白质。经过生物信息学分析和生化实验,我们发现与免疫炎症、凝血、血压和炎症以及血脂相关的蛋白质在尿道下裂患儿的包皮组织中有差异表达。我们进一步通过生化实验证实,与血管紧张素系统、胆固醇代谢和凝血有关的蛋白FGB、FGG、SERPINA1和AGT明显上调。特别是参与血压调节的血管紧张素系统中的 AGT 蛋白,我们已经证明它会随着尿道下裂的严重程度而增加。这项研究表明,尿道下裂患儿更容易罹患高脂血症和心血管疾病(CVD)。我们的研究结果为尿道下裂患儿早期监测血脂和血压以预防心血管疾病提供了理论依据。
本文章由计算机程序翻译,如有差异,请以英文原文为准。

Retrospective studies and quantitative proteomics reveal that abnormal expression of blood pressure, blood lipids, and coagulation related proteins is associated with hypospadias.

Retrospective studies and quantitative proteomics reveal that abnormal expression of blood pressure, blood lipids, and coagulation related proteins is associated with hypospadias.

Hypospadias refers to the abnormal position of the male urethral orifice, which not only leads to urination disorder but also causes sexual dysfunction in adulthood. However, the complex and diverse pathogenic factors of hypospadias are still unclear. To study the pathogenesis and prognosis of hypospadias, we counted the serological indexes of children with hypospadias, and found that sSBP, TC and LDL increased in children with mild, moderate and severe hypospadias. Subsequently, we used quantitative proteomics to find differential proteins in mild, moderate and severe hypospadias. After bioinformatics analysis and biochemical experiments on the screened DEPs, we found that the expression of proteins related to immune inflammation, coagulation, blood pressure and inflammation, and blood lipid were differential expressed in the prepuce tissue of children with hypospadias. We further confirmed that the proteins FGB, FGG, SERPINA1, and AGT involved in the angiotensin system, cholesterol metabolism, and coagulation were significantly up-regulated by biochemical experiments. In particular, the AGT protein of the angiotensin system involved in blood pressure regulation, we have shown that it increases with the severity of hypospadias. This study suggests that children with hypospadias are more likely to suffer from hyperlipidemia and cardiovascular disease (CVD). Our findings provide a theoretical basis for early monitoring of blood lipids and blood pressure to prevent CVD in children with hypospadias.

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来源期刊
Human Genetics
Human Genetics 生物-遗传学
CiteScore
10.80
自引率
3.80%
发文量
94
审稿时长
1 months
期刊介绍: Human Genetics is a monthly journal publishing original and timely articles on all aspects of human genetics. The Journal particularly welcomes articles in the areas of Behavioral genetics, Bioinformatics, Cancer genetics and genomics, Cytogenetics, Developmental genetics, Disease association studies, Dysmorphology, ELSI (ethical, legal and social issues), Evolutionary genetics, Gene expression, Gene structure and organization, Genetics of complex diseases and epistatic interactions, Genetic epidemiology, Genome biology, Genome structure and organization, Genotype-phenotype relationships, Human Genomics, Immunogenetics and genomics, Linkage analysis and genetic mapping, Methods in Statistical Genetics, Molecular diagnostics, Mutation detection and analysis, Neurogenetics, Physical mapping and Population Genetics. Articles reporting animal models relevant to human biology or disease are also welcome. Preference will be given to those articles which address clinically relevant questions or which provide new insights into human biology. Unless reporting entirely novel and unusual aspects of a topic, clinical case reports, cytogenetic case reports, papers on descriptive population genetics, articles dealing with the frequency of polymorphisms or additional mutations within genes in which numerous lesions have already been described, and papers that report meta-analyses of previously published datasets will normally not be accepted. The Journal typically will not consider for publication manuscripts that report merely the isolation, map position, structure, and tissue expression profile of a gene of unknown function unless the gene is of particular interest or is a candidate gene involved in a human trait or disorder.
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