Synonyms
APOC2 deficiency; Hyperlipoproteinemia type Ib; C-II anapolipoproteinemia
Definition and Characteristics
Autosomal recessive defect of apolipoprotein C-II (apo C-II), the cofactor of lipoprotein lipase (LPL), leading to excessive fasting hypertriglyceridemia and chylomicronemia.
As a result of the hypertriglyceridemia the patients may suffer from pancreatitis, eruptive xanthomas, lipemia retinalis, and hepatosplenomegaly. Heterozygous carriers are typically normolipidemic. Clinically and biochemically, apo C-II deficiency closely mimics LPL deficiency.
Prevalence
Extremely rare, <1:106.
Genes
APOC2, localized on chromosome 19q13.2, contains four exons, overall length 3,570 bp, a single transcript of 717 bp. An overview of published mutations is shown in Table 1.
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References
Jong MC, Hofker MH, Havekes LM (1999) Roles of apoCs in lipoprotein metabolism. Aterioscler Thromb Vasc Biol 19:472–484
Shen Y, Lookene A, Nilsson S, Olivecrona G (2002) Functional analyses of human apoliporotein CII by site-directed mutagenesis. Identification of residues important for activation of lipoprotein lipase. J Biol Chem 277:4334–4342
Zdunek J et al. (2003) Global structure and dynamics of human apolipoprotein CII in complex with micelles: evidence for increased mobility of the helix involved in the activation of lipoprotein lipase. Biochemistry 42:1872–1889
Shachter NS et al. (1994) Overexpression of apolipoprotein CII causes hypertriglyceridemia in transgenic mice. J Clin Invest 93:1683–1690
Baggio G et al. (1986) Apolipoprotein C-II deficiency syndrome: clinical features, lipoprotein characterization, lipase activity, and correction of hypertriglyceridemia after apolipoprotein C-II administration in two affected patients. J Clin Invest 77:520–527
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Hoffmann, M.M., März, W. (2009). Apo C-II Deficiency. In: Lang, F. (eds) Encyclopedia of Molecular Mechanisms of Disease. Springer, Berlin, Heidelberg. https://doi.org/10.1007/978-3-540-29676-8_137
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DOI: https://doi.org/10.1007/978-3-540-29676-8_137
Publisher Name: Springer, Berlin, Heidelberg
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