Palsdottir Astridur, Snorradottir Asbjorg Osk, Hakonarson Hakon
Institute for Experimental Pathology, University of Iceland, Reykjavík, Iceland.
Faculty of Medicine, University of Iceland, Reykjavík, Iceland, Department of Pathology, Landspítali University Hospital, Reykjavík, Iceland.
Laeknabladid. 2022 Dec;108(12):553-557. doi: 10.17992/lbl.2022.12.721.
Hereditary cystatin C amyloid angiopathy (HCCAA) is a dominantly inherited disease caused by a mutation (L68Q) in the cystatin C gene, CST3. Mutant cystatin C protein accumulates as amyloid in arterioles in the brain leading to repeated brain hemorrhages and death of young carriers. Recently a possible treatment option was reported for HCCAA carriers involving an oral treatment with N-acetyl-cysteine in order to increase glutathione which was found to dissolve aggregates of mutant cystatin C. An earlier study described how the life span of carriers of the L68Q mutation shortened in the latter half of the 19th century. During the same decades a drastic change occured in the diet in Iceland. In the beginning of the century the diet was simple and low in carbohydrates, which mostly came from milk products. Import of grains and sugar was limited, but increased greatly according to import records. Due to lack of salt, food was preserved in acid whey, but gradually salt replaced whey as means of preserving food. This study aims to explore if changes in the diet of Icelanders during the same decades could possibly affect the amount of glutathione in people.
遗传性胱抑素C淀粉样血管病（HCCAA）是一种由胱抑素C基因CST3中的突变（L68Q）引起的常染色体显性遗传病。突变的胱抑素C蛋白以淀粉样蛋白的形式在脑小动脉中积累，导致年轻携带者反复脑出血并死亡。最近，有报道称HCCAA携带者可能的治疗选择是口服N-乙酰半胱氨酸，以增加谷胱甘肽，发现谷胱甘肽可溶解突变型胱抑素C的聚集体。一项较早的研究描述了19世纪后半叶L68Q突变携带者的寿命是如何缩短的。在同一时期，冰岛的饮食发生了巨大变化。本世纪初，饮食简单，碳水化合物含量低，主要来自奶制品。谷物和糖的进口有限，但根据进口记录大幅增加。由于缺乏盐，食物用酸乳清保存，但盐逐渐取代乳清成为保存食物的方法。本研究旨在探讨同一时期冰岛人饮食的变化是否可能影响人体内谷胱甘肽的含量。
