scholarly journals Autosomal Recessive Hypercholesterolemia

2020 ◽  
Author(s):  
Keyword(s):  
Autosomal Recessive ◽  
Autosomal Recessive Hypercholesterolemia

scholarly journals A New Locus for Autosomal Recessive Hypercholesterolemia Maps to Human Chromosome 15q25-q26

2000 ◽  
Vol 66 (2) ◽  
pp. 453-460 ◽  
Author(s):  
Milco Ciccarese ◽  
Adolfo Pacifico ◽  
Giancarlo Tonolo ◽  
Paolo Pintus ◽  
Andrej Nikoshkov ◽  
...  
Keyword(s):  
Human Chromosome ◽  
Autosomal Recessive ◽  
Autosomal Recessive Hypercholesterolemia

Abstract 1921: Clinical Impact of Heterozygous Carrier of Autosomal Recessive Hypercholesterolemia on Asymptomatic Hyperlipidemic Patients: Evidence From Familial Gene Analysis

Circulation ◽  
2008 ◽  
Vol 118 (suppl_18) ◽  
Author(s):  
Hayato Tada ◽  
Masa-aki Kawashiri ◽  
Tohru Noguchi ◽  
Chiaki Nakanishi ◽  
Masayuki Tsuchida ◽  
...  
Keyword(s):  
Autosomal Recessive ◽  
Genetic Defect ◽  
Ldl Receptor ◽  
Density Lipoprotein ◽  
Serum Triglyceride ◽  
Adaptor Protein ◽  
Receptor Internalization ◽  
Single Mutation ◽  
Heterozygous Carrier ◽  
Autosomal Recessive Hypercholesterolemia

Autosomal recessive hypercholesterolemia (ARH) is an extremely rare genetic defect, and is recognized only around 50 cases in all over the world. The genetic cause of ARH is mutation in an adaptor protein involved in low-density lipoprotein (LDL) receptor internalization, which results in marked elevation of serum LDL cholesterol (LDL-C) and premature atherosclerosis. Therefore, few data exist regarding the clinical significance about the heterozygous carrier of ARH. We recently identified the second ARH patient (Ins C 599 ) in Japan and his some relatives who have the same single mutation (heterozygous). We identified 11 heterozygous ARH carriers (male=5, mean age=48.2) and 7 non-carriers (male=3, mean age=53.3) in the same family. In addition, we screened the same mutations in unrelated consecutive 500 hyperlipidemic patients (male=32, mean age=49.4) with mean LDL-C of 225.2±6.1mg/dl using PCR to determine its frequency and examined their clinical features. We identified an unrelated heterozygous ARH carrier and a non-carrier in the same family among unrelated to the original family. Serum LDL-C levels of heterozygous ARH carriers (mean=153.8±35.8mg/dl) were significantly higher than those of non-carriers (mean=108.2±41.4mg/dl, p<0.05). Serum triglyceride (151.9±110.7mg/dl vs 140.4±48.8mg/dl) and high-density lipoprotein cholesterol (57.4±11.0mg/dl vs 54.0±11.9mg/dl) levels were not different between them. Interestingly, heterozygous ARH carriers didn’t show any xanthomas including Achilles tendon (6.4±1.1mm vs 5.7±1.1mm) in contrast to FH, which is frequently associated with typical xanthoma. These results demonstrate that heterozygous ARH (Ins C 599 ) carriers show higher LDL-C levels compared with non-carrier family member without tendon xanthomas observed in FH. We suggest that heterozygous ARH (Ins C 599 ) carrier may explain a part of primary hypercholesterolemia.

A novel ARH splice site mutation in a Mexican kindred with autosomal recessive hypercholesterolemia

2004 ◽  
Vol 116 (1-2) ◽  
pp. 114-120 ◽  
Author(s):  
Samuel Canizales-Quinteros ◽  
Carlos A. Aguilar-Salinas ◽  
Adriana Huertas-Vázquez ◽  
María L. Ordóñez-Sánchez ◽  
Maribel Rodríguez-Torres ◽  
...  
Keyword(s):  
Splice Site ◽  
Autosomal Recessive ◽  
Splice Site Mutation ◽  
Site Mutation ◽  
Autosomal Recessive Hypercholesterolemia

A new variant (c.1A>G) in LDLRAP1 causing autosomal recessive hypercholesterolemia: Characterization of the defect and response to PCSK9 inhibition

2019 ◽  
Vol 284 ◽  
pp. 223-229 ◽  
Author(s):  
Carmen Rodríguez-Jiménez ◽  
Diego Gómez-Coronado ◽  
Manuel Frías Vargas ◽  
Francisca Cerrato ◽  
Carlos Lahoz ◽  
...  
Keyword(s):  
Autosomal Recessive ◽  
New Variant ◽  
Autosomal Recessive Hypercholesterolemia ◽  
Pcsk9 Inhibition

PCSK9 inhibition for autosomal recessive hypercholesterolemia

2019 ◽  
Vol 284 ◽  
pp. 209-211 ◽  
Author(s):  
Kévin Chemello ◽  
Cesar Martín ◽  
Gilles Lambert
Keyword(s):  
Autosomal Recessive ◽  
Autosomal Recessive Hypercholesterolemia ◽  
Pcsk9 Inhibition

Genetic epidemiology of autosomal recessive hypercholesterolemia in Sicily: Identification by next-generation sequencing of a new kindred

2018 ◽  
Vol 12 (1) ◽  
pp. 145-151 ◽  
Author(s):  
Rossella Spina ◽  
Davide Noto ◽  
Carlo M. Barbagallo ◽  
Roberto Monastero ◽  
Valeria Ingrassia ◽  
...  
Keyword(s):  
Next Generation Sequencing ◽  
Genetic Epidemiology ◽  
Autosomal Recessive ◽  
Next Generation ◽  
Autosomal Recessive Hypercholesterolemia ◽  
Generation Sequencing

Autosomal recessive hypercholesterolemia in Spanish kindred due to a large deletion in the ARH gene

2007 ◽  
Vol 92 (3) ◽  
pp. 243-248 ◽  
Author(s):  
Fabiana Quagliarini ◽  
Joan-Carles Vallvé ◽  
Filomena Campagna ◽  
Adriana Alvaro ◽  
Francisco José Fuentes-Jimenez ◽  
...  
Keyword(s):  
Autosomal Recessive ◽  
Large Deletion ◽  
Autosomal Recessive Hypercholesterolemia

scholarly journals A Novel Thr56Met Mutation of the Autosomal Recessive Hypercholesterolemia Gene Associated with Hypercholesterolemia

2010 ◽  
Vol 17 (2) ◽  
pp. 131-140 ◽  
Author(s):  
Koji Harada ◽  
Yoshihiro Miyamoto ◽  
Hiroko Morisaki ◽  
Naotaka Ohta ◽  
Itaru Yamanaka ◽  
...  
Keyword(s):  
Autosomal Recessive ◽  
Autosomal Recessive Hypercholesterolemia

scholarly journals Restoration of LDL receptor function in cells from patients with autosomal recessive hypercholesterolemia by retroviral expression of ARH1

2002 ◽  
Vol 110 (11) ◽  
pp. 1695-1702 ◽  
Author(s):  
Emily R. Eden ◽  
Dilipkumar D. Patel ◽  
Xi-Ming Sun ◽  
Jemima J. Burden ◽  
Michael Themis ◽  
...  
Keyword(s):  
Autosomal Recessive ◽  
Ldl Receptor ◽  
Receptor Function ◽  
Autosomal Recessive Hypercholesterolemia ◽  
In Cells
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