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首页> 外文期刊>Egyptian Journal of Medical Human Genetics >Alteration of rRNA gene copy number and expression in patients with intellectual disability and heteromorphic acrocentric chromosomes
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Alteration of rRNA gene copy number and expression in patients with intellectual disability and heteromorphic acrocentric chromosomes

机译：智障和异形近端中心染色体患者rRNA基因拷贝数和表达的变化

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Background Intellectual disability (ID) is an important medical and social problem that can be caused by different genetic and environmental factors. One such factor could be rDNA amplification and changes in rRNA expression and maturation. Aim of the study The aim of the present study was to investigate rRNA levels in patients with heteromorphism of the p-arms of acrocentric chromosomes bearing nucleolus organizer regions compared to a healthy control group. Material and methods Frequencies of p-arms enlargements in patients with ID and in healthy people were analyzed by G-banding screening. rRNA gene copy numbers on affected acrocentric chromosomes in peripheral blood lymphocytes were evaluated in ID patients and healthy bearers using FISH, and in immortalized lymphocytes of one patient – using FISH and real time PCR. Simultaneously, levels of 18S, 28S and 5,8S rRNA in both groups by means of qRT-PCR were investigated. Results No difference in acrocentric chromosome heteromorphism frequency in patients versus the healthy group were found. However, we found an amplification of rDNA, a significant elevation in 28S and 5.8S rRNA expression and changes in the 28S/18S rRNA ratio in ID patients compared to healthy controls. At the same time, FISH appeared to be not reliable enough for copy number evaluation, but RT-PCR showed rDNA copy changes in heteromorphic cells compared to normal. Conclusion Our findings indicate a loss of the correct regulation of rDNA activity and processing after amplification. This could disturb the ribosomal apparatus and thus lead to intellectual disability via at least two mechanisms.
机译：背景知识智力障碍（ID）是一个重要的医学和社会问题，可能由不同的遗传和环境因素引起。这样的因素之一可能是rDNA扩增以及rRNA表达和成熟的变化。研究的目的本研究的目的是与健康对照组相比，研究携带核仁组织区的acrocentric染色体p臂异型患者的rRNA水平。材料和方法通过G谱带筛查分析ID患者和健康人中p臂增大的频率。使用FISH对ID患者和健康人的外周血淋巴细胞受影响的顶心染色体上的rRNA基因拷贝数进行了评估，并使用FISH和实时PCR对一名患者的永生化淋巴细胞进行了评估。同时，通过qRT-PCR研究了两组中18S，28S和5,8S rRNA的水平。结果发现患者与健康组的顶体染色体异质性频率无差异。但是，我们发现与健康对照组相比，ID患者的rDNA扩增，28S和5.8S rRNA表达显着升高以及28S / 18S rRNA比的变化。同时，FISH似乎不足以用于拷贝数评估，但RT-PCR显示异形细胞中rDNA拷贝的变化与正常相比。结论我们的发现表明扩增后无法正确调节rDNA活性和加工。这可能会干扰核糖体设备，从而通过至少两种机制导致智力残疾。

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