Identification of a novel C5L2 variant (S323I) in a French Canadian family with familial combined hyperlipemia

Arteriosclerosis, Thrombosis, and Vascular Biology
Michel MarcilK Cianflone

Abstract

A functional acylation stimulating protein (ASP) receptor, C5L2, has been recently identified in ASP-responsive cells. Impaired ASP-mediated triglyceride synthesis has previously been described in a subset of hyperapolipoprotein B/familial combined hyperlipidemia subjects. DNA sequencing of C5L2 coding region in 61 unrelated probands identified a heterozygous variant (G968-->T) in 1 subject, resulting in Ser323-->Ile substitution in the carboxyl terminal region. This variant was not detected in 2176 additional chromosomes by restriction fragment length polymorphism or fluorescence polarization genotyping. Eight family members of the proband were identified with one altered (+/-)C5L2 allele. Nine other family members had the wild-type (+/+)C5L2 sequence. The abnormal allele was associated with increased plasma triglyceride, plasma cholesterol, low-density lipoprotein (LDL) cholesterol, apolipoprotein B and ASP. Of 23 subjects tested in cell-based ASP bioactivity assays, those with C5L2(+/-) variant (n = 2) had a 50% reduction in ASP-stimulated triglyceride synthesis, glucose transport and marked reduction in maximal binding (B(max)). By contrast, a C5L2(+/+) family member responded normally, as did hyperapolipoprotein B normal A...Continue Reading

References

Mar 1, 1990·The Journal of Clinical Investigation·K M CianfloneA D Sniderman
May 1, 1986·Arteriosclerosis : an Official Journal of the American Heart Association, Inc·J GenestP Kwiterovich
Nov 1, 1983·Proceedings of the National Academy of Sciences of the United States of America·B TengP O Kwiterovich
Jan 1, 1980·Proceedings of the National Academy of Sciences of the United States of America·A SnidermanP O Kwiterovich
Jul 27, 1999·American Journal of Human Genetics·B E AouizeratA J Lusis
Aug 24, 1999·European Journal of Clinical Investigation·M MaslowskaK Cianflone
Jan 24, 2003·The Journal of Biological Chemistry·David KalantPeter N Monk
Jan 25, 2003·Biochimica Et Biophysica Acta·Katherine CianfloneLan Ying Chen
Apr 19, 2003·Cellular Signalling·José Vázquez-PradoJ Adolfo García-Sáinz
May 29, 2003·Current Pharmaceutical Design·K Cianflone
Oct 18, 2003·Journal of Lipid Research·Katherine CianfloneAllan Sniderman
Jan 3, 2004·Journal of Lipid Research·May FarajKatherine Cianflone
Feb 25, 2005·Vitamins and Hormones·Magdalena MaslowskaKatherine Cianflone
Apr 19, 2005·The Journal of Biological Chemistry·David KalantKatherine Cianflone
Jun 25, 2005·Arteriosclerosis, Thrombosis, and Vascular Biology·Adriana Huertas-VazquezPäivi Pajukanta

❮ Previous
Next ❯

Citations

May 21, 2016·Nature Reviews. Endocrinology·Katrina L EllisGerald F Watts
Dec 14, 2007·Gynecological Endocrinology : the Official Journal of the International Society of Gynecological Endocrinology·Cagatay OktenliKatherine Cianflone
Feb 15, 2012·Nature Reviews. Endocrinology·Martijn C G J BrouwersAnton F H Stalenhoef
Jul 15, 2017·Journal of Immunology Research·Ting ZhangKe Li
May 20, 2021·Clínica e investigación en arteriosclerosis : publicación oficial de la Sociedad Española de Arteriosclerosis·Juan Pedro-BotetJesús Millán
Sep 4, 2021·Biochemical Genetics·Eskandar TaghizadehSeyed Mohammad Gheibihayat

❮ Previous
Next ❯

Related Concepts

Trending Feeds

COVID-19

Coronaviruses encompass a large family of viruses that cause the common cold as well as more serious diseases, such as the ongoing outbreak of coronavirus disease 2019 (COVID-19; formally known as 2019-nCoV). Coronaviruses can spread from animals to humans; symptoms include fever, cough, shortness of breath, and breathing difficulties; in more severe cases, infection can lead to death. This feed covers recent research on COVID-19.

Blastomycosis

Blastomycosis fungal infections spread through inhaling Blastomyces dermatitidis spores. Discover the latest research on blastomycosis fungal infections here.

Nuclear Pore Complex in ALS/FTD

Alterations in nucleocytoplasmic transport, controlled by the nuclear pore complex, may be involved in the pathomechanism underlying multiple neurodegenerative diseases including Amyotrophic Lateral Sclerosis and Frontotemporal Dementia. Here is the latest research on the nuclear pore complex in ALS and FTD.

Applications of Molecular Barcoding

The concept of molecular barcoding is that each original DNA or RNA molecule is attached to a unique sequence barcode. Sequence reads having different barcodes represent different original molecules, while sequence reads having the same barcode are results of PCR duplication from one original molecule. Discover the latest research on molecular barcoding here.

Chronic Fatigue Syndrome

Chronic fatigue syndrome is a disease characterized by unexplained disabling fatigue; the pathology of which is incompletely understood. Discover the latest research on chronic fatigue syndrome here.

Evolution of Pluripotency

Pluripotency refers to the ability of a cell to develop into three primary germ cell layers of the embryo. This feed focuses on the mechanisms that underlie the evolution of pluripotency. Here is the latest research.

Position Effect Variegation

Position Effect Variagation occurs when a gene is inactivated due to its positioning near heterochromatic regions within a chromosome. Discover the latest research on Position Effect Variagation here.

STING Receptor Agonists

Stimulator of IFN genes (STING) are a group of transmembrane proteins that are involved in the induction of type I interferon that is important in the innate immune response. The stimulation of STING has been an active area of research in the treatment of cancer and infectious diseases. Here is the latest research on STING receptor agonists.

Microbicide

Microbicides are products that can be applied to vaginal or rectal mucosal surfaces with the goal of preventing, or at least significantly reducing, the transmission of sexually transmitted infections. Here is the latest research on microbicides.