Ástríður Pálsdóttir¹

Ásbjörg Ósk Snorradóttir^2,3

Hákon Hákonarson^2,4,5

 

¹Institute for Experimental Pathology, University of Iceland, Reykjavík, Iceland, ²Faculty of Medicine, University of Iceland, Reykjavík, Iceland, ³Department of Pathology, Landspítali University Hospital, Reykjavík, Iceland, ⁴The Center for Applied Genomics, Children's Hospital of Philadelphia, ⁵Divisions of Human Genetics and Pulmonary Medicine, Department of Pediatrics, The Perelman School of Medicine, University of Pennsylvania.

Correspondence: Ástríður Pálsdóttir, astripal@hi.is

Key words: n-acetylcystein, HCCAA, cystatin C, amyloid. L68Q, glutathione.

 

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.