Carbonara A O, Bottaro A
Dipartimento di Genetica, Università degli Studi di Torino.
Ric Clin Lab. 1989 Jan-Mar;19(1):27-38. doi: 10.1007/BF02871789.
Amyloidoses are a very heterogeneous set of diseases, characterized by extracellular deposition of fibrillar proteins in different tissues. It is still a matter of debate whether the different forms of amyloidosis can share some common etiological mechanisms, or they are completely unrelated. The biochemical characterization of the protein component of the deposits provides a powerful system of classification for the different amyloidotic disorders and shades light on the molecular mechanisms of selective precipitation from soluble precursors and of tissue-specific deposition. Furthermore, identification and analysis of the genes coding for the precursors, and clarification of the kind of inheritance in some familial forms of amyloidosis, make prevention through genetic counselling and predictive diagnosis possible.
淀粉样变性是一组非常异质性的疾病，其特征是不同组织中存在纤维状蛋白质的细胞外沉积。不同形式的淀粉样变性是否能共享一些共同的病因机制，还是它们完全无关，这仍是一个有争议的问题。沉积物蛋白质成分的生化特征为不同的淀粉样变性疾病提供了一个强大的分类系统，并揭示了从可溶性前体中选择性沉淀以及组织特异性沉积的分子机制。此外，对编码前体的基因进行鉴定和分析，以及阐明某些家族性淀粉样变性的遗传类型，使得通过遗传咨询和预测性诊断进行预防成为可能。
