Skip header and navigation

Refine By

4 records – page 1 of 1.

A 9.6 kilobase deletion in the low density lipoprotein receptor gene in Norwegian familial hypercholesterolemia subjects.

https://arctichealth.org/en/permalink/ahliterature36531
Source
Clin Genet. 1992 Dec;42(6):288-95
Publication Type
Article
Date
Dec-1992
Author
O K Rødningen
O. Røsby
S. Tonstad
L. Ose
K. Berg
T P Leren
Author Affiliation
Department of Medical Genetics, Ullevål Hospital, Oslo, Norway.
Source
Clin Genet. 1992 Dec;42(6):288-95
Date
Dec-1992
Language
English
Publication Type
Article
Keywords
Adolescent
Adult
Aged
Base Sequence
Blotting, Southern
Child
Cholesterol - blood
DNA - analysis
Exons - genetics
Female
Haplotypes
Humans
Hypercholesterolemia, Familial - genetics
Male
Middle Aged
Molecular Sequence Data
Norway
Pedigree
Polymerase Chain Reaction
Polymorphism, Restriction Fragment Length
Receptors, LDL - genetics
Research Support, Non-U.S. Gov't
Sequence Analysis, DNA
Sequence Deletion
Xanthomatosis - etiology
Abstract
Haplotype analysis of the low density lipoprotein receptor (LDLR) gene was performed in Norwegian subjects heterozygous for familial hypercholesterolemia (FH). Southern blot analysis of genomic DNA, using an exon 18 specific probe and the restriction enzyme NcoI, showed that two out of 57 unrelated FH subjects had an abnormal 3.6 kb band. Further analyses revealed that this abnormal band was due to a 9.6 kb deletion that included exons 16 and 17. The 5' deletion breakpoint was after 245 bp of intron 15, and the 3' deletion breakpoint was in exon 18 after nucleotide 3390 of cDNA. Thus, both the membrane-spanning and cytoplasmatic domains of the receptor had been deleted. A polymerase chain reaction (PCR) method was developed to identify this deletion among other Norwegian FH subjects. As a result of this screening one additional subject was found out of 124 subjects screened. Thus, three out of 181 (1.7%) unrelated Norwegian FH subject possessed this deletion. The deletion was found on the same haplotype in the three unrelated subjects, suggesting a common mutagenic event. The deletion is identical to a deletion (FH-Helsinki) that is very common among Finnish FH subjects. However, it is not yet known whether the mutations evolved separately in the two countries.
PubMed ID
1362925 View in PubMed
Less detail

Cerebrotendinous xanthomatosis: molecular characterization of two Scandinavian sisters.

https://arctichealth.org/en/permalink/ahliterature188457
Source
J Intern Med. 2002 Sep;252(3):259-64
Publication Type
Article
Date
Sep-2002
Author
E. Rystedt
M. Olin
Y. Seyama
M. Buchmann
A. Berstad
G. Eggertsen
I. Björkhem
Author Affiliation
Division of Clinical Chemistry, Huddinge University Hospital, Karolinska Institutet, Stockholm, Sweden. ingemar.bjorkhem@chemlab.hs.sll.se
Source
J Intern Med. 2002 Sep;252(3):259-64
Date
Sep-2002
Language
English
Publication Type
Article
Keywords
Adult
Amino Acid Substitution
Cell Line
Cholestanetriol 26-Monooxygenase
Consanguinity
Cytochrome P-450 Enzyme System - deficiency - genetics - metabolism
DNA Mutational Analysis
Disease Progression
Enzyme Activation - genetics
Fatal Outcome
Female
Genes, Recessive
Humans
Intellectual Disability - etiology
Kidney - cytology - enzymology
Mutation
Nuclear Family
Scandinavia
Steroid Hydroxylases - deficiency - genetics - metabolism
Transfection
Xanthomatosis - etiology
Xanthomatosis, Cerebrotendinous - complications - diagnosis - genetics
Abstract
Cerebrotendinous xanthomatosis (CTX) is a hereditary disorder, which is inherited as an autosomally recessive disease, causing production of cholesterol and cholestanol xanthomas and mental retardation. The disease is caused by mutations in the gene for sterol 27-hydroxylase (CYP27A1). The only CTX patients diagnosed in Scandinavia are two Norwegian sisters from a consanguineous marriage. Here we have characterized the mutation and its functional consequences for the enzyme. Analysis of genomic DNA from cultured fibroblasts identified a base exchange C > T in position 1441, causing arginine at amino acid position 441 to be replaced by tryptophan. The same mutation was introduced by mutagenesis in the complimentary DNA (cDNA) for CYP27, ligated into the expression vector pcDNA4/HisMax and transfected into HEK293 cells. The mutated enzyme had less than 5% of the enzyme activity compared with the native enzyme. No abnormal catalytic products could be identified in the cell culture medium. Probably the mutation affects the haem binding within the holoenzyme. The mutation has also previously been reported in a Japanese family. This is the second example of a CTX-causing mutation that has been recognized in more than one population.
PubMed ID
12270007 View in PubMed
Less detail

Disease knowledge and adherence to treatment in patients with familial hypercholesterolemia.

https://arctichealth.org/en/permalink/ahliterature82513
Source
J Cardiovasc Nurs. 2006 Mar-Apr;21(2):103-8
Publication Type
Article
Author
Hollman Gunilla
Olsson Anders G
Ek Anna-Christina
Author Affiliation
Division of Nursing Science, Department of Medicine and Care, Faculty of Health Sciences, University of Linköping, Linköping, Sweden. gunho@imv.liu.se
Source
J Cardiovasc Nurs. 2006 Mar-Apr;21(2):103-8
Language
English
Publication Type
Article
Keywords
Adult
Age Distribution
Aged
Aged, 80 and over
Antilipemic Agents - therapeutic use
Cholesterol, LDL - blood
Coronary Disease - etiology - prevention & control
Exercise
Female
Health Behavior
Health Knowledge, Attitudes, Practice
Health Surveys
Humans
Hyperlipoproteinemia Type II - blood - complications - psychology - therapy
Male
Middle Aged
Patient Compliance - statistics & numerical data
Self Care - statistics & numerical data
Sex Distribution
Socioeconomic Factors
Sweden
Xanthomatosis - etiology
Abstract
BACKGROUND: Familial hypercholesterolemia (FH) is one of the most common genetic metabolic disorders and is associated with a high risk of premature coronary heart disease. Primary prevention directed at lifestyle changes, combined with preventive medical treatment, is the most important way to reduce the risk of coronary heart disease in individuals with FH. Knowledge about the condition and adherence to drug treatment may facilitate reaching treatment goals. OBJECTIVE: The purpose of this study was to describe disease knowledge and adherence to treatment in patients with FH. SUBJECTS AND METHODS: Seventy-four patients, more than 18 years of age, with FH were asked to participate. A questionnaire on disease knowledge about FH and adherence to drug treatment was sent to the patients. Response rate was 92% (n = 68). Drug treatment, laboratory results, blood pressure, and smoking were also documented. RESULTS: Most patients knew about cholesterol, prevention, and the reason for drug treatment but were less informed about the risk of genetic transmission and family history. No significant correlation was found between knowledge and low-density lipoprotein cholesterol level. A significant, negative correlation between adherence and low-density lipoprotein cholesterol level was found (r = -.354, P
PubMed ID
16601526 View in PubMed
Less detail

Familial hypercholesterolemia in a large kindred. Evidence of a monogenic mechanism.

https://arctichealth.org/en/permalink/ahliterature2256
Source
Annals of Internal Medicine. 1972 May;76(5):711-20.
Publication Type
Article
Date
1972
Author
Schrott, H.G.
Goldstein J.L.
Hazzard W.R.
McGoodwin M.M.
Motulsky A.G.
Author Affiliation
University of Washington
Source
Annals of Internal Medicine. 1972 May;76(5):711-20.
Date
1972
Language
English
Geographic Location
U.S.
Publication Type
Article
Physical Holding
Alaska Medical Library
Keywords
Adolescent
Adult
Aged
Alaska
Arcus Senilis - etiology
Child
Child, Preschool
Cholesterol - blood
Consanguinity
Coronary Disease - etiology
Female
Genes, Dominant
Genetics, Medical
Humans
Hyperlipidemia - blood - complications - genetics
Infant
Infant, Newborn
Linkage (Genetics)
Male
Middle Aged
Pedigree
Triglycerides - blood
Xanthomatosis - etiology
King Cove
Familial hypercholesterolemia
Lipids
Ischemic heart disease
Lipoproteins
Notes
From: Fortuine, Robert et al. 1993. The Health of the Inuit of North America: A Bibliography from the Earliest Times through 1990. University of Alaska Anchorage. Citation number 2673.
Less detail