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...

Full description

Bibliographic Details
Main Authors: Koivisto, U M, Turtola, H, Aalto-Setälä, K, Top, B, Frants, R R, Kovanen, P T, Syvänen, A C, Kontula, K
Format: Text
Language:English
Published: 1992
Subjects:
Online Access:http://www.ncbi.nlm.nih.gov/pmc/articles/PMC443084
http://www.ncbi.nlm.nih.gov/pubmed/1634609
id ftpubmed:oai:pubmedcentral.nih.gov:443084
record_format openpolar
spelling 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)
institution Open Polar
collection PubMed Central (PMC)
op_collection_id ftpubmed
language English
topic Research Article
spellingShingle 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.
topic_facet Research Article
description 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
genre karelia*
genre_facet karelia*
op_relation http://www.ncbi.nlm.nih.gov/pmc/articles/PMC443084
http://www.ncbi.nlm.nih.gov/pubmed/1634609
_version_ 1766052795363885056