Beta-glucocerebrosidase gene locus as a link for Gaucher's disease and familial hypo-alpha-lipoproteinaemia

Lancet
Miguel PocovíJ M Ordovas

Abstract

Gaucher's disease is the most common lysosomal storage disorder, caused by deficiency of glucocerebrosidase resulting from homozygosity for any of several mutations of the glucocerebrosidase gene locus. Affected people have decreased concentrations of LDL cholesterol (LDL-C) and HDL cholesterol (HDL-C). We assessed the association between mutations in the glucocerebrosidase locus and hypo-alpha-lipoproteinaemia. We studied 258 people from 43 unrelated Spanish families. 57 participants were affected, 137 were non-affected carriers, and 64 were non-carriers. We determined glucocerebrosidase genotypes and measured plasmid lipids, apolipoproteins A-I, B, and E, and leucocyte glucocerebrosidase activity. The most common glucocerebrosidase mutations were N370S (45%), L444P (23%), and G377S (5%). Deletions and recombinants accounted for another 5%, and point mutations in exons 5, 6, 9, and 10 were present in 12%. Affected participants had lower LDL-C and HDL-C concentrations than non-affected carriers (p<0.001) and non-carriers (p<0.001). HDL-C values were also significantly different between the non-affected carriers and non-carriers. Mutations at this locus may account for as much as 19.5% of the genetic variability in HDL-C in the ...Continue Reading

References

Nov 7, 1991·The New England Journal of Medicine·E Beutler
Jul 1, 1991·Clinical Nuclear Medicine·J J SziklasR P Spencer
Dec 24, 1990·Clinica Chimica Acta; International Journal of Clinical Chemistry·E BeutlerC West
Nov 9, 1989·The New England Journal of Medicine·D J Gordon, B M Rifkind
Mar 1, 1988·Metabolism: Clinical and Experimental·N A LeH N Ginsberg
Jul 1, 1988·Human Genetics·H R Middleton-PriceS Malcolm
Feb 11, 1988·Nucleic Acids Research·S A MillerH F Polesky
Nov 1, 1995·Medicine·D Balicki, E Beutler
Jan 1, 1994·Journal of Inherited Metabolic Disease·R O BradyN W Barton
Feb 1, 1993·Biochemical Medicine and Metabolic Biology·O AmaralM C Sa Miranda

❮ Previous
Next ❯

Citations

Feb 4, 2011·Journal of Inherited Metabolic Disease·Philip SteinPramod K Mistry
Oct 31, 2007·Journal of Genetics·Karima Ait ChihabMariame El Messal
Jul 9, 2004·The Journal of Pediatrics·Margaret M McGovernMelissa P Wasserstein
Aug 31, 1999·Clinical Genetics·O AmaralM C Sá Miranda
Jun 27, 2002·Pediatric Research·Segundo RiteMiguel Pocovi
Mar 9, 2011·Journal of Inherited Metabolic Disease·Pilar GiraldoMiguel Pocovi
Jun 26, 2004·Current Opinion in Cardiology·Michael Miller, Min Zhan
Nov 13, 2001·American Journal of Human Genetics·R A Hegele
Jan 5, 2014·Circulation Research·Federico OldoniJan Albert Kuivenhoven
Aug 2, 2003·Arteriosclerosis, Thrombosis, and Vascular Biology·Marta ArtiedaFernando Civeira
Oct 13, 2006·The Journal of Biological Chemistry·Bassam HaidarYves L Marcel
Apr 13, 2019·Biological Trace Element Research·Hadi MozafariMohammad Reza Alaei
Aug 19, 2020·Liver International : Official Journal of the International Association for the Study of the Liver·Fabio NascimbeniFrancesca Carubbi

❮ Previous
Next ❯

Related Concepts

Related Feeds

ApoE, Lipids & Cholesterol

Serum cholesterol, triglycerides, apolipoprotein B (APOB)-containing lipoproteins (very low-density lipoprotein (VLDL), immediate-density lipoprotein (IDL), and low-density lipoprotein (LDL), lipoprotein A (LPA)) and the total cholesterol/high-density lipoprotein (HDL) cholesterol ratio are all connected in diseases. Here is the latest research.

ApoE Phenotypes

Apolipoprotein E (APOE) is a protein involved in fat metabolism and associated with the pathogenesis of Alzheimer's disease and cardiovascular disease. Here is the latest research on APOE phenotypes.