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Open Access Research

A novel lipoprotein lipase gene missense mutation in Chinese patients with severe hypertriglyceridemia and pancreatitis

Tan-Zhou Chen1, Sai-Li Xie1, Rong Jin2 and Zhi-Ming Huang1*

Author Affiliations

1 The Department of Gastroenterology and Hepatology, The First Affiliated Hospital of Wenzhou Medical University, Wenzhou, China

2 Department of Epidemiology, The First Affiliated Hospital of Wenzhou Medical University, Wenzhou, China

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Lipids in Health and Disease 2014, 13:52  doi:10.1186/1476-511X-13-52

Published: 19 March 2014

Abstract

Background

Alterations or mutations in the lipoprotein lipase (LPL) gene contribute to severe hypertriglyceridemia (HTG). This study reported on two patients in a Chinese family with LPL gene mutations and severe HTG and acute pancreatitis.

Methods

Two patients with other five family members were included in this study for DNA-sequences of hyperlipidemia-related genes (such as LPL, APOC2, APOA5, LMF1, and GPIHBP1) and 43 healthy individuals and 70 HTG subjects were included for the screening of LPL gene mutations.

Results

Both patients were found to have a compound heterozygote for a novel LPL gene mutation (L279V) and a known mutation (A98T). Furthermore, one HTG subject out of 70 was found to carry this novel LPL L279V mutation.

Conclusions

The data from this study showed that compound heterozygote mutations of A98T and L279V inactivate lipoprotein lipase enzymatic activity and contribute to severe HTG and acute pancreatitis in two Chinese patients. Further study will investigate how these LPL gene mutations genetically inactivate the LPL enzyme.

Keywords:
Lipoprotein lipase deficiency; LPL gene; Mutation; Hypertriglyceridemia; Pancreatitis