异常的SOX10和RET表达在患有赫施普朗格病的患者
Gunadi1, Verrell Christopher Amadeus2, Fadila Dyah Trie Utami2
1Pediatric Surgery Division, Department of Surgery/Genetics Working Group/Translational Research Unit, Faculty of Medicine, Public Health and Nursing, Universitas Gadjah Mada/Dr. Sardjito Hospital, Jl. Kesehatan No. 1, Yogyakarta, 55281, Indonesia. drgunadi@ugm.ac.id.
BMC pediatrics
|March 17, 2024
概括
赫施普隆病 (HSCR) 涉及异常的SRY-Box转录因子10 (SOX10) 和在转染 (RET) 过程中重新安排的基因表达. 这项针对印尼高血压患者的研究证实了它们在肠道神经系统发育中的关键作用.
科学领域:
- 遗传学和分子生物学
- 发展生物学 发展生物学
- 胃肠病学 胃肠病学
背景情况:
- 赫施普隆病 (HSCR) 是一种复杂的遗传疾病,影响肠道神经系统 (ENS) 发育.
- HSCR的发病包括基因调节网络 (GRNs) 的破坏,特别是涉及SOX10和RET.
- 了解SOX10和RET表达对于HSCR研究至关重要.
研究的目的:
- 为了评估印尼高抗癌患者中SOX10和RET的表达水平.
- 阐明SOX10和RET在HSCR病变发生中的作用.
- 确认SOX10-RET途径在ENS发育中的参与.
主要方法:
- 使用定量实时聚合酶链反应 (qRT-PCR) 来分析SOX10和RET表达.
- 总RNA从HSCR患者和对照者的结体和结体组织中提取.
- GAPDH作为参考基因,并使用利瓦克的方法 (2^-ΔΔCT) 来确定表达水平.
主要成果:
- 与对照人群相比,在状 (2.84倍) 和状 (3.72倍) HSCR结肠中观察到SOX10表达的显著上调.
- 相反,RET表达在状 (11.71倍) 和状 (29.96倍) HSCR结肠中显著下调.
- 该研究包括19名HSCR患者和16名对照患者,其中大多数是男性患者 (68.4%).
结论:
- 在印度尼西亚的高血压患者中,SOX10和RET的异常表达明显.
- 这些发现强调了SOX10和RET在HSCR病变发生过程中的关键作用.
- 这项研究加强了SOX10-RET通路在ENS发育过程中在GRN中的参与.
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