scholarly journals Interaction between the LDL-receptor gene bearing a novel mutation and a variant in the apolipoprotein A-II promoter: molecular study in a 1135-member familial hypercholesterolemia kindred

2002 ◽  
Vol 47 (12) ◽  
pp. 0656-0664 ◽  
Author(s):  
D. Takada ◽  
M. Emi ◽  
Y. Ezura ◽  
Y. Nobe ◽  
K. Kawamura ◽  
...  
Keyword(s):  
Familial Hypercholesterolemia ◽  
Novel Mutation ◽  
Receptor Gene ◽  
Ldl Receptor ◽  
Molecular Study ◽  
Apolipoprotein A

scholarly journals Identification of a novel mutation in exon 13 of the LDL receptor gene causing familial hypercholesterolemia in two Spanish families

1996 ◽  
Vol 1316 (1) ◽  
pp. 1-4 ◽  
Author(s):  
Ana Cenarro ◽  
Henrik K. Jensen ◽  
Elena Casao ◽  
Fernando Civeira ◽  
José Gonzàlez-Bonillo ◽  
...  
Keyword(s):  
Familial Hypercholesterolemia ◽  
Novel Mutation ◽  
Receptor Gene ◽  
Ldl Receptor

A novel mutation of the LDL receptor gene leading to familial hypercholesterolemia

2009 ◽  
Vol 111 (7) ◽  
pp. 646-651 ◽  
Author(s):  
Pengyu Su ◽  
Luya Wang ◽  
Jie Lin ◽  
Shu Liu ◽  
Junhui Xia ◽  
...  
Keyword(s):  
Familial Hypercholesterolemia ◽  
Novel Mutation ◽  
Receptor Gene ◽  
Ldl Receptor

scholarly journals Avian apolipoprotein A-V binds to LDL receptor gene family members

2007 ◽  
Vol 48 (7) ◽  
pp. 1451-1456 ◽  
Author(s):  
Andrea Dichlberger ◽  
Larry A. Cogburn ◽  
Johannes Nimpf ◽  
Wolfgang J. Schneider
Keyword(s):  
Gene Family ◽  
Receptor Gene ◽  
Family Members ◽  
Ldl Receptor ◽  
Apolipoprotein A ◽  
Receptor Gene Family

scholarly journals Long-Distance PCR-based Screening for Large Rearrangements of the LDL Receptor Gene in Korean Patients with Familial Hypercholesterolemia

1999 ◽  
Vol 45 (9) ◽  
pp. 1424-1430 ◽  
Author(s):  
Sung Han Kim ◽  
Ji Hyun Bae ◽  
Jae Jin Chae ◽  
Un Kyung Kim ◽  
Seong-Joon Choe ◽  
...  
Keyword(s):  
Sequence Analysis ◽  
Familial Hypercholesterolemia ◽  
Receptor Gene ◽  
Blot Hybridization ◽  
Screening Method ◽  
Ldl Receptor ◽  
Southern Blot Hybridization ◽  
Long Distance ◽  
Large Rearrangements ◽  
Long Distance Pcr

Abstract Background: The LDL receptor is a cell-surface protein that regulates plasma cholesterol by specific uptake of LDL particles from the blood circulation. Familial hypercholesterolemia (FH) results from defective catabolism of LDL, which is caused by mutations in the LDL-receptor gene. Methods: For the rapid and reliable detection of large rearrangements in the LDL-receptor gene, we established a screening method based on long-distance PCR as an alternative to Southern-blot hybridization. Using long-distance PCR, 45 unrelated Korean subjects heterozygous for FH were screened to assess the frequency and nature of major structural rearrangements in the LDL-receptor gene. Results: Two different deletion mutations, FH6 (same type as FH3 and FH311) and FH 32, were detected in four families by long-distance PCR. Detailed restriction mapping and sequence analysis showed that FH6 was a 5.71-kb deletion extending from intron 8 to intron 12 and that FH32 was a 2-kb deletion extending from intron 6 to intron 7. Sequence analysis for the breakpoints of all deletions detected in Korean FH patients showed that only the left arms of the Alu repetitive sequences were involved in the deletion event. Conclusions: The screening method based on long-distance PCR provides a powerful strategy for the detection of large rearrangements in the LDL-receptor gene and is a rapid and reliable screening alternative to Southern-blot hybridization.

scholarly journals Familial Hypercholesterolemia: Three “under” (Understood, Underdiagnosed, and Undertreated) Disease

2021 ◽  
Author(s):  
Vladimir O. Konstantinov
Keyword(s):  
Familial Hypercholesterolemia ◽  
Time Course ◽  
Ldl Cholesterol ◽  
Genetic Disorders ◽  
Receptor Gene ◽  
Ldl Receptor ◽  
Hdl Cholesterol ◽  
Blood Cholesterol ◽  
Healthy Population ◽  
Loss Of Function

Familial hypercholesterolemia (FH) is one of the most prevalent genetic disorders leading to premature atherosclerosis and coronary heart disease. The main cause of FH is a mutation in the LDL-receptor gene that leads to loss of function of these receptors causing high levels of blood cholesterol. The diagnosis of FH is not very easy. Wide screenings are needed to reveal high levels of LDL cholesterol among “healthy” population. If the patient has MI or stroke at an early age, high levels of LDL cholesterol, and tendon xanthomas, the diagnosis of FH becomes much more clear. Genetic testing is a gold standard in the diagnosis of FH. There are several factors, influencing the time course of FH. Smoking males with low levels of HDL cholesterol have an extremely higher risk of death than nonsmoking females with high HDL cholesterol. Management of FH includes low cholesterol diet, statin and ezetimibe treatment, PCSK inhibitors, and LDL aphaeresis. Early and effective treatment influences much the prognosis in FH patients.

scholarly journals Four Novel Partial Deletions of LDL-Receptor Gene in Italian Patients With Familial Hypercholesterolemia

1995 ◽  
Vol 15 (1) ◽  
pp. 81-88 ◽  
Author(s):  
S. Bertolini ◽  
R. Garuti ◽  
W. Lelli ◽  
M. Rolleri ◽  
R. M. Tiozzo ◽  
...  
Keyword(s):  
Familial Hypercholesterolemia ◽  
Receptor Gene ◽  
Ldl Receptor
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