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

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.

• Authors: Tan-Zhou Chen, Sai-Li Xie, Rong Jin, Zhi-Ming Huang
• Journal: Lipids in health and disease (Lipids Health Dis) Vol. 13 Pg. 52 (Mar 19 2014) ISSN: 1476-511X [Electronic] England
• PMID: 24646025 (Publication Type: Journal Article, Research Support, Non-U.S. Gov't)

Chemical References

• Lipoprotein Lipase

Topics

• Adult
• Asian People (genetics)
• Exons (genetics)
• Female
• Humans
• Hypertriglyceridemia (genetics)
• Lipoprotein Lipase (genetics)
• Male
• Middle Aged
• Mutation, Missense (genetics)
• Pancreatitis (genetics)
• Pedigree