New rare genetic variants of LMF1 gene identified in severe hypertriglyceridemia.

Date publication

juillet 2018

Journal

Journal of clinical lipidology

Auteurs

Membres identifiés du Cancéropôle Est :
Pr VERGES Bruno

Tous les auteurs :
Serveaux Dancer M, Di Filippo M, Marmontel O, Valéro R, Piombo Rivarola MDC, Peretti N, Caussy C, Krempf M, Vergès B, Mahl M, Marçais C, Moulin P, Charrière S

Lien Pubmed

https://www.ncbi.nlm.nih.gov/pubmed/30037590

Résumé

The LMF1 (lipase maturation factor 1) gene encodes a protein involved in lipoprotein lipase and hepatic lipase maturation. Homozygous mutations in LMF1 leading to severe hypertriglyceridemia (SHTG) are rare in the literature. A few additional rare LMF1 variants have been described with poor functional studies.

Mots clés

Chylomicronemia syndrome, Dyslipidemia, Genetic, Hypertriglyceridemia, Lipolysis, Triglyceride

Référence

J Clin Lipidol. 2018 Jul 7;: