Search: WFRF:(Syvänen Ann Christine)
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The familial hyperc...
The familial hypercholesterolemia (FH)-North Karelia mutation of the low density lipoprotein receptor gene deletes seven nucleotides of exon 6 and is a common cause of FH in Finland
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Koivisto, U M (author)
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Turtola, H (author)
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Aalto-Setälä, K (author)
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Top, B (author)
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Frants, R R (author)
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Kovanen, P T (author)
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Syvänen, Ann-Christine (author)
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Kontula, K (author)
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- 1992
- 1992
- English.
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In: Journal of Clinical Investigation. - 0021-9738 .- 1558-8238. ; 90:1, s. 219-228
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https://urn.kb.se/re...
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https://doi.org/10.1...
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Abstract
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- A mutation of the LDL receptor gene very common among Finnish patients with heterozygous familial hypercholesterolemia (FH) was identified. This mutation, designated as FH-North Karelia, deletes seven nucleotides from exon 6 of the LDL receptor gene, causes a translational frameshift, and is predicted to result in a truncated receptor protein. Only minute quantities of mRNA corresponding to the deleted gene were detected. Functional studies using cultured fibroblasts from the patients revealed that the FH-North Karelia gene is associated with a receptor-negative (or binding-defective) phenotype of FH. Carriers of the FH-North Karelia gene showed a typical xanthomatous form of FH, with mean serum total and LDL cholesterol levels of 12 and 10 mmol/liter, respectively. This mutation was found in 69 (34%) out of 201 nonrelated Finnish FH patients and was especially abundant (prevalence 79%) in patients from the eastern Finland. These results, combined with our earlier data on another LDL receptor gene deletion (FH-Helsinki), demonstrate that two "Finnish-type" mutant LDL receptor genes make up about two thirds of FH mutations in this country, reflecting a founder gene effect. This background provides good possibilities to examine whether genetic heterogeneity affects the clinical presentation or responsiveness to therapeutic interventions in FH.
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- art (subject category)
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