Department of Public Health and Pediatric Sciences, University of Turin, Piazza Polonia, 96 10126, Turin, Italy.
Pediatric Gastroenterology Unit, Regina Margherita Children's Hospital, Azienda Ospedaliera-Universitaria Città della Salute e della Scienza, Turin, Italy.
Eur J Pediatr. 2021 Aug;180(8):2429-2434. doi: 10.1007/s00431-021-04050-x. Epub 2021 Mar 26.
Human endogenous retroviruses (HERVs) represent 8% of our genome. Although no longer infectious, they can regulate transcription of adjacent cellular genes, produce retroviral RNAs, and encode viral proteins that can modulate both innate and adaptive immune responses. Based on this, HERVs have been studied and proposed as contributing factors in various autoimmune disorders. Celiac disease (CD) is considered an autoimmune disease, but HERV expression has not been studied in celiac patients. The aim of this study is to assess the transcription levels of pol genes of HERV-H, -K, and -W and of their TRIM28 repressor in WBCs from celiac children and age-matched control subjects. A PCR real-time TaqMan amplification assay was used to evaluate HERV and TRIM28 transcripts with normalization of the results to glyceraldehyde-3-phosphate dehydrogenase. The RNA levels of pol genes of the three HERV families were significantly higher in WBCs from 38 celiac patients than from 51 control subjects. TRIM28 transcription was comparable between the two study populations.Conclusion: Present results show, for the first time, that pol genes of HERV-H, -K, and -W are overexpressed in patients with CD. Given their proinflammatory and autoimmune properties, this suggests that HERVs may contribute to the development of CD in susceptible individuals. What is Known: • Based on this, HERVs have been studied and proposed as contributing factors in various autoimmune disorders. What is New: • Present results show, for the first time, that pol genes of HERV-H, -K, and -W are overexpressed in patients with CD.
人类内源性逆转录病毒 (HERV) 占我们基因组的 8%。虽然不再具有感染性,但它们可以调节邻近细胞基因的转录,产生逆转录 RNA,并编码病毒蛋白,从而调节固有和适应性免疫反应。基于这一点,HERV 已被研究并被提出作为各种自身免疫性疾病的致病因素。乳糜泻 (CD) 被认为是一种自身免疫性疾病,但尚未在乳糜泻患者中研究 HERV 的表达。本研究旨在评估 HERV-H、-K 和 -W 的 pol 基因及其 TRIM28 抑制剂在乳糜泻患儿和年龄匹配的对照组白细胞中的转录水平。使用实时 PCR TaqMan 扩增测定法评估 HERV 和 TRIM28 转录物,并将结果归一化为甘油醛-3-磷酸脱氢酶。38 例乳糜泻患者的白细胞中三种 HERV 家族的 pol 基因的 RNA 水平明显高于 51 例对照组。两组研究人群的 TRIM28 转录水平相当。
本研究首次表明,CD 患者的 HERV-H、-K 和 -W 的 pol 基因表达过度。鉴于其促炎和自身免疫特性,这表明 HERV 可能有助于易感个体 CD 的发展。
基于这一点,HERV 已被研究并被提出作为各种自身免疫性疾病的致病因素。
本研究首次表明,CD 患者的 HERV-H、-K 和 -W 的 pol 基因表达过度。