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首页> 外文期刊>Genetics Research >Assessment of DNA damage using cytokinesis-block micronucleus cytome assay in lymphocytes of dilated cardiomyopathy patients
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Assessment of DNA damage using cytokinesis-block micronucleus cytome assay in lymphocytes of dilated cardiomyopathy patients

机译：应用胞质阻滞微核细胞仪检测扩张型心肌病患者淋巴细胞中的DNA损伤

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摘要

Studies on the extent of DNA damage are undertaken to elucidate the nature and causes of genomic instability in any syndrome or disease progression in human. In this study, cytokinesis-block micronucleus cytome (CBMN Cyt) assay was employed to evaluate the extent of chromosomal instability or DNA damage in lymphocytes of patients suffering from dilated cardiomyopathy (DCM), a serious cardiac muscle disorder. Effect of DNA damage on the disease was also assessed by analysis of mutations in cardiac Troponin C type I (TNNC1) gene. Blood samples were collected from 48 DCM patients and 48 age- and sex-matched controls from Vellore region of South India. Significantly high frequencies of micronuclei (MNi) and genomic damage such as nuclear buds (NBUDs) and nucleoplasmic bridges (NPBs) were observed in the patient group as compared with the control group (P 0.001). Molecular analysis revealed that no mutations were found in the TNNC1 gene. It was observed that although there was a high frequency of DNA damage in the lymphocytes of the patients, no correlation between severity of the phenotype and the frequencies of MNi, NPBs and NBUDS could be established. Our study appears to be the first one in which chromosomal instability was estimated using CBMN Cyt assay for DCM patients. Studies with a larger population size may help in validating the use of genetic markers for establishing frequencies and type of DNA damage in DCM. It will also help in understanding the effect of DNA damage on this disease.
机译：对DNA破坏程度的研究旨在阐明人类任何综合征或疾病进展中基因组不稳定的性质和原因。在这项研究中，采用胞质分裂阻滞性微核细胞因子（CBMN Cyt）测定来评估患有严重心肌病（DCM）的扩张型心肌病（DCM）患者的淋巴细胞染色体不稳定或DNA损伤的程度。还通过分析I型肌钙蛋白C（TNNC1）基因的突变来评估DNA损伤对疾病的影响。从南印度韦洛尔地区的48位DCM患者和48位年龄和性别匹配的对照中采集血液样本。与对照组相比，在患者组中观察到了高频率的微核（MNi）和基因组损伤，例如核芽（NBUDs）和核​​质桥（NPBs）（P <0.001）。分子分析表明，在TNNC1基因中未发现突变。观察到，尽管患者淋巴细胞中DNA损伤的频率很高，但是在表型的严重性与MNi，NPBs和NBUDS的频率之间没有相关性。我们的研究似乎是第一个使用CBMN Cyt分析评估DCM患者染色体不稳定性的研究。人口规模较大的研究可能有助于验证使用遗传标记来确定DCM中DNA损伤的频率和类型。它还将有助于理解DNA损伤对该疾病的影响。

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