Zupin Luisa, Celsi Fulvio, Bresciani Martina, Orzan Eva, Grasso Domenico Leonardo, Crovella Sergio
Department of Medicine, Surgery and Health Sciences, University of Trieste, Trieste, Italy.
Laboratory of Immunogenetics, Institute for Maternal and Child Health, IRCCS Burlo Garofolo, Trieste, Italy.
Int J Pediatr Otorhinolaryngol. 2018 Apr;107:135-139. doi: 10.1016/j.ijporl.2018.01.041. Epub 2018 Feb 5.
Innate immunity molecules are known to play a pivotal role in the homeostasis of the oral mucosa, permitting the presence of commensal microflora and, at the same time, providing a first line of defense against pathogens attempting to invade the oral cavity. Tonsils represent the local immune tissue in oral cavity, being able to provide a non-specific response to pathogens; however, in the presence of microbes or foreign materials present in the mouth tonsils could became infected and develop chronic inflammation, thus leading to hypertrophy. The etiology of the disease is multifactorial depending upon environmental and host factors, the latter including molecules of mucosal innate immunity.
Ninety-five children with adeno-tonsillar hypertrophy subjected to adeno-tonsillectomy were recruited at the pediatric otorhinolaryngology service of the Institute for Maternal and Child Health IRCCS Burlo Garofolo, Trieste (Italy). The specimen discarded from the surgery were used for genomic DNA extraction and genotyping, for mRNA extraction and gene expression analysis, finally the samples were cut and used to prepare slides to perform immunohistochemistry.
Functional polymorphisms within DEFB1 gene, encoding the human beta defensin-1 (hBD-1), were analyzed finding association between DEFB1 rare haplotypes and susceptibility to adeno-tonsillar hypertrophy. DEFB1 mRNA expression was detected in the tonsils and the hBD-1 protein was localized at the epithelia of tonsils mainly in the proximity of the basal lamina.
Our findings lead us to hypothesize an involvement of hBD-1 mediated innate immunity in the modulation of the susceptibility towards adeno-tonsillar hypertrophy development.
已知固有免疫分子在口腔黏膜的稳态中起关键作用,允许共生微生物群的存在,同时提供抵御试图侵入口腔的病原体的第一道防线。扁桃体是口腔中的局部免疫组织,能够对病原体产生非特异性反应;然而,在口腔中存在微生物或异物的情况下,扁桃体可能会被感染并发展为慢性炎症,从而导致肥大。该疾病的病因是多因素的,取决于环境和宿主因素,后者包括黏膜固有免疫分子。
在意大利的里雅斯特市IRCCS Burlo Garofolo妇幼保健研究所的儿科耳鼻咽喉科招募了95名接受腺样体扁桃体切除术的腺样体扁桃体肥大儿童。手术中丢弃的标本用于基因组DNA提取和基因分型、mRNA提取和基因表达分析,最后将样本切片并用于制备载玻片以进行免疫组织化学。
分析了编码人β-防御素-1(hBD-1)的DEFB1基因内的功能多态性,发现DEFB1罕见单倍型与腺样体扁桃体肥大易感性之间存在关联。在扁桃体中检测到DEFB1 mRNA表达,并且hBD-1蛋白主要定位在扁桃体上皮细胞靠近基底层的位置。
我们的研究结果使我们推测hBD-1介导的固有免疫参与了对腺样体扁桃体肥大发展易感性的调节。