title: [Identification of variants in LMF1 gene associated with primary hypertriglyceridemia].
abstract: The majority of severe primary hypertriglyceridemia (HTG) are diagnosed in adults, and their molecular bases have not yet been fully defined. The promoter, coding regions and intron-exon boundaries of LMF1 were sequenced in 112 patients with severe primary hipertrigliceridemia (defined as TG above 500mg/dl). Five patients (4.46%) were carriers of four rare variants in the LMF1 gene associated with HTG, which participate in lipoprotein lipase (LpL) function. Also, we have identified two common variants, c.194-28 T>G and c.729+18C>G that were associated with HTG, with a different allelic frequency to that observed in the general population. A bioinformatic analysis of all found variants was conducted, defining the following as potentially harmful: p.Arg364Gln, p.Arg451Trp, p.Pro562Arg and p.Leu85Leu. Our results suggest that LMF1 mutations are involved in a substantial proportion of cases with severe HTG, putting together the moderate-aggressive effect of rare mutations with polymorphisms classically associated with this disease.
authors.affiliation: Unidad Clínica y de Investigación en Lípidos y Arteriosclerosis, Hospital Universitario Miguel Servet, Instituto de Investigación Sanitaria Aragón, Zaragoza, España. Electronic address: itziarlamiquiz@gmail.com.
authors.forename: Itziar
authors.initials: I
authors.lastname: Lamiquiz-Moneo
authors.affiliation: Unidad Clínica y de Investigación en Lípidos y Arteriosclerosis, Hospital Universitario Miguel Servet, Instituto de Investigación Sanitaria Aragón, Zaragoza, España.
authors.forename: Ana M
authors.initials: AM
authors.lastname: Bea
authors.affiliation: Unidad Clínica y de Investigación en Lípidos y Arteriosclerosis, Hospital Universitario Miguel Servet, Instituto de Investigación Sanitaria Aragón, Zaragoza, España.
authors.forename: Rocío
authors.initials: R
authors.lastname: Mateo-Gallego
authors.affiliation: Unidad Clínica y de Investigación en Lípidos y Arteriosclerosis, Hospital Universitario Miguel Servet, Instituto de Investigación Sanitaria Aragón, Zaragoza, España.
authors.forename: Lucía
authors.initials: L
authors.lastname: Baila-Rueda
authors.affiliation: Unidad Clínica y de Investigación en Lípidos y Arteriosclerosis, Hospital Universitario Miguel Servet, Instituto de Investigación Sanitaria Aragón, Zaragoza, España.
authors.forename: Ana
authors.initials: A
authors.lastname: Cenarro
authors.affiliation: Departamento de Bioquímica y Biología Molecular y Celular, Universidad de Zaragoza, Instituto de Investigación Sanitaria Aragón, Zaragoza, España.
authors.forename: Miguel
authors.initials: M
authors.lastname: Pocoví
authors.affiliation: Unidad Clínica y de Investigación en Lípidos y Arteriosclerosis, Hospital Universitario Miguel Servet, Instituto de Investigación Sanitaria Aragón, Zaragoza, España.
authors.forename: Fernando
authors.initials: F
authors.lastname: Civeira
authors.affiliation: Unidad Clínica y de Investigación en Lípidos y Arteriosclerosis, Hospital Universitario Miguel Servet, Instituto de Investigación Sanitaria Aragón, Zaragoza, España.
authors.forename: Isabel
authors.initials: I
authors.lastname: de Castro-Orós
mesh_terms: D000328:Adult; D000368:Aged; D001483:Base Sequence; D005091:Exons; D005260:Female; D005787:Gene Frequency; D014644:Genetic Variation; D006801:Humans; D015228:Hypertriglyceridemia / Q000235:genetics*; D008071:Lipoprotein Lipase / Q000378:metabolism; D008297:Male; D008565:Membrane Proteins / Q000235:genetics*; D008875:Middle Aged; D009154:Mutation; D011110:Polymorphism, Genetic; D055815:Young Adult
chemical_list: C546366:LMF1 protein, human; D008565:Membrane Proteins; D008071:Lipoprotein Lipase
keywords: Factor 1 de maduración de la lipasa; Hipertrigliceridemia; Hypertriglyceridemia; LMF1; Lipase maturation factor 1; Lipoprotein lipase; Lipoproteína lipasa; Mutaciones; Mutations