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  • Title: Missense mutation Leu72Pro located on the carboxyl terminal amphipathic helix of apolipoprotein C-II causes familial chylomicronemia syndrome.
    Author: Lam CW, Yuen YP, Cheng WF, Chan YW, Tong SF.
    Journal: Clin Chim Acta; 2006 Feb; 364(1-2):256-9. PubMed ID: 16153625.
    Abstract:
    BACKGROUND: Chylomicronemia syndrome can be caused by 2 autosomal recessive disorders - lipoprotein lipase (LPL) deficiency and apolipoprotein C-II (apo C-II) deficiency. METHODS: We described 2 siblings with chylomicronemia syndrome of a consanguineous family. To determine the molecular basis of chylomicronemia syndrome in this family, we performed direct DNA sequencing of the LPL and APOC2 genes of the proband. RESULTS: A novel homozygous mutation, Leu72Pro, in the APOC2 gene was found in both siblings whereas their parents were carriers. No LPL mutations were detected in the siblings. Apo C-II contains 3 amphipathic alpha helices; the C-terminal alpha helix is composed of residues 64 to 74. Substitution of residue 72 from a helix former leucine to a helix breaker, proline, is predicted to change the secondary structure of the C-terminal helix and subsequently alter the interaction between apo C-II and LPL. CONCLUSIONS: To our knowledge, Leu72Pro is the first missense mutation identified in the C-terminal of apo C-II. The result is consistent with the current biochemical and structural findings that the C-terminal helix of apo C-II is important for activation of LPL.
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