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.
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 predict...
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ftpubmed:oai:pubmedcentral.nih.gov:443084 2023-05-15T17:00:10+02:00 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. Koivisto, U M Turtola, H Aalto-Setälä, K Top, B Frants, R R Kovanen, P T Syvänen, A C Kontula, K 1992-07 http://www.ncbi.nlm.nih.gov/pmc/articles/PMC443084 http://www.ncbi.nlm.nih.gov/pubmed/1634609 en eng http://www.ncbi.nlm.nih.gov/pmc/articles/PMC443084 http://www.ncbi.nlm.nih.gov/pubmed/1634609 Research Article Text 1992 ftpubmed 2013-08-30T00:40:17Z 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. Text karelia* PubMed Central (PMC) |
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Research Article Koivisto, U M Turtola, H Aalto-Setälä, K Top, B Frants, R R Kovanen, P T Syvänen, A C Kontula, K 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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Research Article |
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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. |
format |
Text |
author |
Koivisto, U M Turtola, H Aalto-Setälä, K Top, B Frants, R R Kovanen, P T Syvänen, A C Kontula, K |
author_facet |
Koivisto, U M Turtola, H Aalto-Setälä, K Top, B Frants, R R Kovanen, P T Syvänen, A C Kontula, K |
author_sort |
Koivisto, U M |
title |
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. |
title_short |
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. |
title_full |
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. |
title_fullStr |
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. |
title_full_unstemmed |
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. |
title_sort |
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. |
publishDate |
1992 |
url |
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC443084 http://www.ncbi.nlm.nih.gov/pubmed/1634609 |
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karelia* |
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karelia* |
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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC443084 http://www.ncbi.nlm.nih.gov/pubmed/1634609 |
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1766052795363885056 |