A novel APOC2 gene mutation identified in a Chinese patient with severe hypertriglyceridemia and recurrent pancreatitis.

Jingjing Jiang,Yan Ling,Abudurexiti Kayoumu,Yuhui Wang,Xin Gao,George Liu

doi:10.1186/s12944-015-0171-6

Jingjing Jiang, Yan Ling + Show 4 more

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https://doi.org/10.1186/s12944-015-0171-6

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BackgroundThe severe forms of hypertriglyceridemia are usually caused by genetic defects. In this study, we described a Chinese female with severe hypertriglyceridemia caused by a novel homozygous mutation in the APOC2 gene.MethodsLipid profiles of the pedigree were studied in detail. LPL and HL activity were also measured. The coding regions of 5 candidate genes (namely LPL, APOC2, APOA5, LMF1, and GPIHBP1) were sequenced using genomic DNA from peripheral leucocytes. The ApoE gene was also genotyped.ResultsSerum triglyceride level was extremely high in the proband, compared with other family members. Plasma LPL activity was also significantly reduced in the proband. Serum ApoCII was very low in the proband as well as in the heterozygous mutation carriers. A novel mutation (c.86A > CC) was identified on exon 2 of the APOC2 gene, which converted the Asn codon at position 29 into Ala, followed by a termination codon (TGA).ConclusionsThis study presented the first case of ApoCII deficiency in the Chinese population, with a novel mutation c.86A > CC in the APOC2 gene identified. Serum ApoCII protein might be a useful screening test for identifying mutation carriers.

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The severe forms of hypertriglyceridemia are usually caused by genetic defects
The severe forms of hypertriglyceridemia or chylomicronemia are usually caused by genetic defects
Mutations in five genes have been found responsible for a portion of these patients, namely lipoprotein lipase (LPL), apolipoprotein A-V (APOA5), apolipoprotein C-II (APOC2), glycosylphosphatidylinositol-anchored highdensity lipoprotein-binding protein 1 (GPIHBP1) and

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Introduction

The severe forms of hypertriglyceridemia are usually caused by genetic defects. We described a Chinese female with severe hypertriglyceridemia caused by a novel homozygous mutation in the APOC2 gene. The severe forms of hypertriglyceridemia or chylomicronemia are usually caused by genetic defects. The Apolipoprotein CII (ApoCII) protein circulates in the blood as a surface component of chylomicrons, VLDL, and HDL [2]. It plays an important role in triglyceride metabolism as a cofactor for LPL, the rate limiting enzyme for hydrolysis and removal of triglycerides from chylomicrons and VLDL. Patients with ApoCII deficiency have marked alterations of triglyceride metabolism, leading to elevated fasting triglycerides, chylomicrons, and VLDL [4]

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