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

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• 作者：Tan-Zhou Chen (5)
  Sai-Li Xie (5)
  Rong Jin (6)
  Zhi-Ming Huang (5)
  
  5. The Department of Gastroenterology and Hepatology ; The First Affiliated Hospital of Wenzhou Medical University ; Wenzhou ; China
  6. Department of Epidemiology ; The First Affiliated Hospital of Wenzhou Medical University ; Wenzhou ; China
  
• 关键词：Lipoprotein lipase deficiency ; LPL gene ; Mutation ; Hypertriglyceridemia ; Pancreatitis
• 刊名：Lipids in Health and Disease
• 出版年：2014
• 出版时间：December 2014
• 年：2014
• 卷：13
• 期：1
• 全文大小：377 KB
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• 刊物主题：Lipidology; Medical Biochemistry;
• 出版者：BioMed Central
• ISSN：1476-511X

文摘

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.