title: A new Italian case of lipoprotein lipase deficiency: a Leu365- > Val change resulting in loss of enzyme activity.
abstract: We describe a second Italian family with primary Lipoprotein Lipase deficiency. A new mutation in exon 8 causes a Leu365- > Val change resulting in severe mass reduction and loss of enzyme activity. We suggest that this change interferes with the correct folding and stability of the protein and impairs the assembly of the active homodimer. The procedures applied are useful to screen a large sample of population for genetic variants and allow the clear identification of asymptomatic heterozygous subjects at risk from atherosclerosis disease.
authors.affiliation: CNR-CSMME, Università di Bari, Italy.
authors.forename: G
authors.initials: G
authors.lastname: Pepe
authors.forename: G
authors.initials: G
authors.lastname: Chimienti
authors.forename: F
authors.initials: F
authors.lastname: Resta
authors.forename: V
authors.initials: V
authors.lastname: Di Perna
authors.forename: C
authors.initials: C
authors.lastname: Tarricone
authors.forename: M
authors.initials: M
authors.lastname: Lovecchio
authors.forename: A M
authors.initials: AM
authors.lastname: Colacicco
authors.forename: A
authors.initials: A
authors.lastname: Capurso
mesh_terms: D000328:Adult; D000595:Amino Acid Sequence; D000818:Animals; D004247:DNA / Q000097:blood / Q000235:genetics; D005091:Exons; D005190:Family; D005260:Female; D014644:Genetic Variation; D006801:Humans; D007558:Italy; D007930:Leucine; D008071:Lipoprotein Lipase / Q000172:deficiency* / Q000235:genetics* / Q000378:metabolism; D008297:Male; D008322:Mammals; D008969:Molecular Sequence Data; D010375:Pedigree; D017354:Point Mutation; D016133:Polymerase Chain Reaction / Q000379:methods; D017386:Sequence Homology, Amino Acid; D014633:Valine
chemical_list: D004247:DNA; D008071:Lipoprotein Lipase; D007930:Leucine; D014633:Valine