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Mutations in the low-density lipoprotein receptor gene in Swedish familial hypercholesterolaemia patients: clinical expression and treatment response

Ekström, Ulf LU ; Abrahamson, Magnus LU ; Wallmark, Anders LU ; Florén, Claes-Henrik LU and Nilsson-Ehle, Peter LU (1998) In European Journal of Clinical Investigation 28(9). p.740-747
Abstract
BACKGROUND: Familial hypercholesterolaemia, an autosomal co-dominant disorder caused by defects in the low-density lipoprotein receptor gene, is strongly associated with premature development of cardiovascular disease. METHODS: In this study, we have applied a gene screening method in a population of familial hypercholesterolaemia patients in order to describe the genetic background of the disease in southern Sweden. These patients were studied with the aim of relating the presence of the different mutations to the clinical expression of the disease and to the response to pharmacological treatment. RESULTS: In 16 out of 21 patients, potentially disease-causing low-density lipoprotein receptor gene defects were found, including five not... (More)
BACKGROUND: Familial hypercholesterolaemia, an autosomal co-dominant disorder caused by defects in the low-density lipoprotein receptor gene, is strongly associated with premature development of cardiovascular disease. METHODS: In this study, we have applied a gene screening method in a population of familial hypercholesterolaemia patients in order to describe the genetic background of the disease in southern Sweden. These patients were studied with the aim of relating the presence of the different mutations to the clinical expression of the disease and to the response to pharmacological treatment. RESULTS: In 16 out of 21 patients, potentially disease-causing low-density lipoprotein receptor gene defects were found, including five not previously described alterations (C240-->F, C122-->stop, C356-->Y, 785insG, 165delG). No defects in apolipoprotein B were found. One group of patients (n = 4) carried the mutation C122-->stop and another group of patients (n = 4) a mutation causing the substitution W66-->G. Patients in the two genotype subgroups were very similar with respect to lipid levels before treatment. CONCLUSION: A tendency towards differential susceptibility to treatment with statins was observed for the patient groups, encouraging further comparative studies of heterozygous FH patients. (Less)
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author
organization
publishing date
type
Contribution to journal
publication status
published
subject
keywords
Apolipoprotein B, denaturing gradient gel electrophoresis, familial hypercholesterolaemia, low-density lipoprotein receptor, mutation, single-stranded conformation polymorphism
in
European Journal of Clinical Investigation
volume
28
issue
9
pages
740 - 747
publisher
Wiley-Blackwell
external identifiers
  • pmid:9767373
  • scopus:0031660154
ISSN
0014-2972
DOI
10.1046/j.1365-2362.1998.00355.x
language
English
LU publication?
yes
id
02bb512d-640e-469b-95f7-5033bb23b838 (old id 1113750)
date added to LUP
2008-07-16 10:53:01
date last changed
2017-01-01 04:55:27
@article{02bb512d-640e-469b-95f7-5033bb23b838,
  abstract     = {BACKGROUND: Familial hypercholesterolaemia, an autosomal co-dominant disorder caused by defects in the low-density lipoprotein receptor gene, is strongly associated with premature development of cardiovascular disease. METHODS: In this study, we have applied a gene screening method in a population of familial hypercholesterolaemia patients in order to describe the genetic background of the disease in southern Sweden. These patients were studied with the aim of relating the presence of the different mutations to the clinical expression of the disease and to the response to pharmacological treatment. RESULTS: In 16 out of 21 patients, potentially disease-causing low-density lipoprotein receptor gene defects were found, including five not previously described alterations (C240-->F, C122-->stop, C356-->Y, 785insG, 165delG). No defects in apolipoprotein B were found. One group of patients (n = 4) carried the mutation C122-->stop and another group of patients (n = 4) a mutation causing the substitution W66-->G. Patients in the two genotype subgroups were very similar with respect to lipid levels before treatment. CONCLUSION: A tendency towards differential susceptibility to treatment with statins was observed for the patient groups, encouraging further comparative studies of heterozygous FH patients.},
  author       = {Ekström, Ulf and Abrahamson, Magnus and Wallmark, Anders and Florén, Claes-Henrik and Nilsson-Ehle, Peter},
  issn         = {0014-2972},
  keyword      = {Apolipoprotein B,denaturing gradient gel electrophoresis,familial hypercholesterolaemia,low-density lipoprotein receptor,mutation,single-stranded conformation polymorphism},
  language     = {eng},
  number       = {9},
  pages        = {740--747},
  publisher    = {Wiley-Blackwell},
  series       = {European Journal of Clinical Investigation},
  title        = {Mutations in the low-density lipoprotein receptor gene in Swedish familial hypercholesterolaemia patients: clinical expression and treatment response},
  url          = {http://dx.doi.org/10.1046/j.1365-2362.1998.00355.x},
  volume       = {28},
  year         = {1998},
}