Saraiva Maria João Mascarenhas
Amyloid Unit, Institute for Cellular and Molecular Biology, University of Porto, R. Campo Alegre, 823. 4150-180 Porto, Portugal.
Expert Rev Mol Med. 2002 May 14;4(12):1-11. doi: 10.1017/S1462399402004647.
Transthyretin (TTR) is a transport protein for thyroid hormones and vitamin A and might have an important role in the nervous system. However, TTR can undergo a conformational change and form amyloid fibrils, in both acquired and hereditary forms of systemic amyloidosis. More than 80 TTR mutations have been associated with autosomal dominant amyloidosis, usually presenting with peripheral and autonomic neuropathy and/or cardiomyopathy. Major areas of research in TTR amyloidosis include: molecular mechanisms leading to fibril formation; mechanisms of fibril-induced cell death; modulators of phenotypic expression of the disease; and therapeutic strategies.
转甲状腺素蛋白（TTR）是一种甲状腺激素和维生素A的转运蛋白，可能在神经系统中发挥重要作用。然而，在获得性和遗传性全身性淀粉样变性中，TTR可发生构象变化并形成淀粉样纤维。超过80种TTR突变与常染色体显性淀粉样变性相关，通常表现为周围神经和自主神经病变及/或心肌病。TTR淀粉样变性的主要研究领域包括：导致纤维形成的分子机制；纤维诱导细胞死亡的机制；疾病表型表达的调节因子；以及治疗策略。
