Title : Heterozygosity for lysosomal acid lipase E8SJM mutation and serum lipid concentrations - Muntoni_2013_Nutr.Metab.Cardiovasc.Dis_23_732 |
Author(s) : Muntoni S , Wiebusch H , Jansen-Rust M , Rust S , Schulte H , Berger K , Pisciotta L , Bertolini S , Funke H , Seedorf U , Assmann G |
Ref : Nutr Metab Cardiovasc Dis , 23 :732 , 2013 |
Abstract :
BACKGROUND AND AIM: The complete absence of the lysosomal acid lipase (LAL) enzyme function causes Wolman's Disease that is fatal within the first six months of life. Subtotal defects cause Cholesteryl ester storage disease (CESD), an autosomal recessive disorder leading to hepatic steatosis, fibrosis, micronodular cirrhosis, combined hyperlipidemia with low HDL-cholesterol, increased risk for atherosclerosis, premature death. Since the frequency of the Exon 8 splice junction mutation (c.894 G > A, E8SJM), the CESD leading mutation, is not rare in the general population (allele frequency 0.0025), we investigated the impact of this mutation on serum lipid profile in E8SJM carriers. METHODS AND |
PubMedSearch : Muntoni_2013_Nutr.Metab.Cardiovasc.Dis_23_732 |
PubMedID: 22795295 |
Gene_locus related to this paper: human-LIPA |
Mutation | S275_Q298del_human-LIPA |
Gene_locus | human-LIPA |
Muntoni S, Wiebusch H, Jansen-Rust M, Rust S, Schulte H, Berger K, Pisciotta L, Bertolini S, Funke H, Seedorf U, Assmann G (2013)
Heterozygosity for lysosomal acid lipase E8SJM mutation and serum lipid concentrations
Nutr Metab Cardiovasc Dis
23 :732
Muntoni S, Wiebusch H, Jansen-Rust M, Rust S, Schulte H, Berger K, Pisciotta L, Bertolini S, Funke H, Seedorf U, Assmann G (2013)
Nutr Metab Cardiovasc Dis
23 :732