Læknablaðið - 01.12.2022, Qupperneq 29

L ÆKNABL AÐIÐ 2022/108 557
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E N G L I S H S U M M A R Y
Did ketogenic diet in past centuries protect against the consequence of the
cystatin L68Q mutation in carriers of HCCAA?
doi 10.17992/lbl.2022.12.721
Ástríður Pálsdóttir1
Ásbjörg Ósk Snorradóttir2,3
Hákon Hákonarson2,4,5
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 treat-
ment 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.