Novel low density lipoprotein receptor variant linked to early onset acute myocardial infarction in a patient with familial hypercholesterolaemia
نویسندگان
چکیده
A novel LDL-receptor gene variant was found responsible for previously undetected familial hypercholesterolaemia and acute myocardial infarction in a young man.
منابع مشابه
A Novel Mutation in Exon 4 of the Low Density Lipoprotein (LDL) Receptor Gene in an Iranian Familial Hypercholesterolemia Patient
Familial hypercholesterolemia (FH) is an autosomal co-dominant disorder of lipid metabolism, caused by mutations in LDL receptor gene. The penetrance of FH is almost 100%, meaning that half of the offspring of affected parents born with disease. The patients are at risk of premature coronary heart disease (CHD). There is no report about the molecular basis of FH in Iran. Identification of mutat...
متن کاملFamilial Hypercholesterolemia in Iran: A Novel Frameshift Mutation in Low Density Lipoprotein Receptor (LDLR) Gene
Background and Objective: Familial hypercholesterolemia (FH) is an autosomal trait, which is caused by mutations in Low Density Lipoprotein Receptor (LDLR) gene. FH penetrance is about 100% and worldwide prevalence for heterozygous subjects is almost 1 in 500 and for homozygous 1 in 1,000,000. The patients are at risk of premature coronary heart disease (CHD) due to defective LDLR a...
متن کاملفراوانی فاکتورهای خطر آترواسکلروز در فرزندان افراد مبتلا به سکتهی قلبی زودرس
Background and objectives: Clinical manifestations of coronary artery disease such as myocardial infarction generally have onset from middle age onwards. However, studies indicate that the atherosclerotic process begins to develop during childhood. The purpose of this study was to evaluate the frequency of risk factors for atherosclerosis in children with family history of premature myocardial ...
متن کاملمشاهده ارتباط واریانت usf1s2 در ژن Upstream stimulatory factor 1 و خطر ابتلا به بیماری گرفتگی عروق قلبی زودرس در جمعیت جنوب ایران
Background: Polymorphisms of the upstream transcription factor 1 (USF1) have been associated with familial combined hyperlipidemia (FCHL), type 2 diabetes and coronary heart diseases (CHD). In the current investigation, the association of USF1s2 variant of human USF1 gene with premature coronary artery disease (PCAD) was evaluated in a population from southern Iran. USF1s2 has the best potentia...
متن کاملSerum lipids four weeks after acute myocardial infarction are a valid basis for lipid lowering intervention in patients receiving thrombolysis.
OBJECTIVE To compare serum concentrations of total cholesterol, low density lipoprotein (LDL) cholesterol, high density lipoprotein (HDL) cholesterol, and triglycerides four weeks after acute myocardial infarction with baseline levels measured within 24 hours after onset of symptoms. DESIGN A prospective study including 141 patients with acute myocardial infarction who were admitted to the co...
متن کامل