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DNA methylation changes in cystic fibrosis: Cause or consequence?
Clinical Genetics ( IF 3.5 ) Pub Date : 2020-02-29 , DOI: 10.1111/cge.13731
Madeleine Scott 1 , Albertina De Sario 1
Affiliation  

Twin and sibling studies have shown that lung disease severity is variable among cystic fibrosis (CF) patients and affected to the same extent by genetic and nonheritable factors. Genetic factors have been thoroughly assessed, whereas the molecular mechanisms whereby nonheritable factors contribute to the phenotypic variability of CF patients are still unknown. Epigenetic modifications may represent the missing link between nonheritable factors and phenotypic variation in CF. Herein, we review recent studies showing that DNA methylation is altered in CF and we address three possible factors responsible for these variations: (i) overproduction of reactive oxygen species, (ii) depletion of DNA methylation cofactors and (iii) susceptibility to acute and chronic bacterial infections. Also, we hypothesize that the unique DNA methylation profile of each patient can modulate the phenotype and discuss the interest of implementing integrated genomic, epigenomic and transcriptomic studies to further understand the clinical diversity of CF patients (Graphical Abstract).

中文翻译:

囊性纤维化中的DNA甲基化变化:原因还是后果?

双胞胎和兄弟姐妹的研究表明,肺病的严重程度在囊性纤维化(CF)患者之间是可变的,并且受遗传和非遗传因素的影响程度相同。已经对遗传因素进行了彻底评估,而尚不清楚非遗传因素促成CF患者表型变异的分子机制。表观遗传修饰可能表示CF中非遗传因素与表型变异之间的缺失联系。本文中,我们回顾了最近的研究,这些研究表明CF中的DNA甲基化发生了改变,并且我们研究了造成这些变化的三个可能因素:(i)活性氧的过量生产;(ii)DNA甲基化辅因子的耗竭;以及(iii)对急性和慢性的敏感性。慢性细菌感染。也,
更新日期:2020-02-29
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