Wong F S, Wen L
Department of Pathology and Microbiology, School of Medical Sciences, University of Bristol, Bristol, UK.
Diabetologia. 2004 Sep;47(9):1476-87. doi: 10.1007/s00125-004-1505-5. Epub 2004 Sep 2.
Type 1 diabetes mellitus is a polygenic disease strongly associated with the class II molecules DR3, 4 and the linked DQ2, 8 alleles. These molecules play an important role in presentation of peptide antigens after intracellular processing to CD4 T lymphocytes. A number of in vitro approaches have been used to elucidate the molecular basis for the association of particular HLA alleles with susceptibility to or protection from Type 1 diabetes mellitus. These have focused on the structure of the antigen-presenting molecules, together with their peptides. Binding studies, peptide elution, molecular modelling and crystallisation of the peptide MHC complex have between them made it possible to define the peptide-binding regions and to examine the stability of binding of peptides from putative autoantigens. It is difficult to study the role of these molecules in vivo in humans, and HLA transgenic mice have been generated to overcome this problem. Studies of mice expressing the HLA class II alleles associated with diabetes have shown that the presence of HLA molecules alone does not cause disease except in the presence of an islet "insult", even when this "insult" would in itself be insufficient to precipitate disease in the absence of the HLA class II transgene. HLA transgenic mice offer a way to elucidate the in vivo role of these molecules, and could help the development of targeted immunotherapy.
1型糖尿病是一种多基因疾病,与II类分子DR3、DR4以及与之连锁的DQ2、DQ8等位基因密切相关。这些分子在细胞内加工后将肽抗原呈递给CD4 T淋巴细胞的过程中发挥重要作用。已经采用了多种体外方法来阐明特定HLA等位基因与1型糖尿病易感性或保护性之间关联的分子基础。这些方法聚焦于抗原呈递分子及其肽段的结构。结合研究、肽洗脱、分子建模以及肽-MHC复合物的结晶,共同使得确定肽结合区域以及研究来自假定自身抗原的肽段结合稳定性成为可能。在人体中研究这些分子在体内的作用存在困难,因此已培育出HLA转基因小鼠以克服这一问题。对表达与糖尿病相关的HLA II类等位基因的小鼠进行的研究表明,单独存在HLA分子不会导致疾病,除非存在胰岛“损伤”,即使在没有HLA II类转基因的情况下,这种“损伤”本身不足以引发疾病。HLA转基因小鼠为阐明这些分子在体内的作用提供了一种方法,并且有助于靶向免疫疗法的开发。