过去几个世纪的生酮饮食是否可以防止HCCAA携带者胱抑素L68Q突变的后果?]

IF 0.4 4区 医学 Q3 MEDICINE, GENERAL & INTERNAL
Astridur Palsdottir, Asbjorg Osk Snorradottir, Hakon Hakonarson
{"title":"过去几个世纪的生酮饮食是否可以防止HCCAA携带者胱抑素L68Q突变的后果?]","authors":"Astridur Palsdottir,&nbsp;Asbjorg Osk Snorradottir,&nbsp;Hakon Hakonarson","doi":"10.17992/lbl.2022.12.721","DOIUrl":null,"url":null,"abstract":"<p><p>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.</p>","PeriodicalId":49924,"journal":{"name":"Laeknabladid","volume":" ","pages":"553-557"},"PeriodicalIF":0.4000,"publicationDate":"2022-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":"0","resultStr":"{\"title\":\"[Did ketogenic diet in past centuries protect against the consequence of the cystatin L68Q mutation in carriers of HCCAA?]\",\"authors\":\"Astridur Palsdottir,&nbsp;Asbjorg Osk Snorradottir,&nbsp;Hakon Hakonarson\",\"doi\":\"10.17992/lbl.2022.12.721\",\"DOIUrl\":null,\"url\":null,\"abstract\":\"<p><p>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.</p>\",\"PeriodicalId\":49924,\"journal\":{\"name\":\"Laeknabladid\",\"volume\":\" \",\"pages\":\"553-557\"},\"PeriodicalIF\":0.4000,\"publicationDate\":\"2022-12-01\",\"publicationTypes\":\"Journal Article\",\"fieldsOfStudy\":null,\"isOpenAccess\":false,\"openAccessPdf\":\"\",\"citationCount\":\"0\",\"resultStr\":null,\"platform\":\"Semanticscholar\",\"paperid\":null,\"PeriodicalName\":\"Laeknabladid\",\"FirstCategoryId\":\"3\",\"ListUrlMain\":\"https://doi.org/10.17992/lbl.2022.12.721\",\"RegionNum\":4,\"RegionCategory\":\"医学\",\"ArticlePicture\":[],\"TitleCN\":null,\"AbstractTextCN\":null,\"PMCID\":null,\"EPubDate\":\"\",\"PubModel\":\"\",\"JCR\":\"Q3\",\"JCRName\":\"MEDICINE, GENERAL & INTERNAL\",\"Score\":null,\"Total\":0}","platform":"Semanticscholar","paperid":null,"PeriodicalName":"Laeknabladid","FirstCategoryId":"3","ListUrlMain":"https://doi.org/10.17992/lbl.2022.12.721","RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"Q3","JCRName":"MEDICINE, GENERAL & INTERNAL","Score":null,"Total":0}
引用次数: 0

摘要

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突变(L68Q)引起的显性遗传性疾病。突变的胱氨酸抑制素C蛋白以淀粉样蛋白的形式在大脑的小动脉中积累,导致年轻携带者反复出现脑出血和死亡。最近报道了一种可能的HCCAA携带者的治疗选择,包括口服n -乙酰半胱氨酸治疗,以增加谷胱甘肽,发现谷胱甘肽可以溶解突变型胱抑素c的聚集体。一项早期的研究描述了19世纪下半叶L68Q突变携带者的寿命如何缩短。在同样的几十年里,冰岛的饮食发生了巨大的变化。在本世纪初,饮食很简单,碳水化合物含量低,主要来自奶制品。粮食和糖的进口是有限的,但根据进口记录,大大增加了。由于缺乏盐,食物被保存在酸性乳清中,但盐逐渐取代乳清作为保存食物的手段。这项研究的目的是探索冰岛人在同一时期的饮食变化是否可能影响人们体内谷胱甘肽的含量。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
[Did ketogenic diet in past centuries protect against the consequence of the cystatin L68Q mutation in carriers of HCCAA?]

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.

求助全文
通过发布文献求助,成功后即可免费获取论文全文。 去求助
来源期刊
Laeknabladid
Laeknabladid MEDICINE, GENERAL & INTERNAL-
CiteScore
0.50
自引率
25.00%
发文量
63
审稿时长
>12 weeks
期刊介绍: Læknablaðið er fræðirit sem birtir vísinda og yfirlitsgreinar og annað efni sem byggir á rannsóknum innan læknisfræði eða skyldra greina. Læknablaðið er gefið út af Læknafélagi Íslands. Blaðið er sent til allra félagsmanna. Það var fyrst gefið út árið 1904 en hefur komið samfellt út frá árinu 1915. Blaðið kemur út 11 sinnum á ári og er prentað í 2000 eintökum. Allt efni Læknablaðsins frá árinu 2000 er aðgengilegt á heimasíðu blaðsins á laeknabladid.is og er aðgangur endurgjaldslaus og öllum opinn.
×
引用
GB/T 7714-2015
复制
MLA
复制
APA
复制
导出至
BibTeX EndNote RefMan NoteFirst NoteExpress
×
提示
您的信息不完整,为了账户安全,请先补充。
现在去补充
×
提示
您因"违规操作"
具体请查看互助需知
我知道了
×
提示
确定
请完成安全验证×
copy
已复制链接
快去分享给好友吧!
我知道了
右上角分享
点击右上角分享
0
联系我们:info@booksci.cn Book学术提供免费学术资源搜索服务,方便国内外学者检索中英文文献。致力于提供最便捷和优质的服务体验。 Copyright © 2023 布克学术 All rights reserved.
京ICP备2023020795号-1
ghs 京公网安备 11010802042870号
Book学术文献互助
Book学术文献互助群
群 号:481959085
Book学术官方微信