[A preliminary report of apoA5 gene novel receptor-binding domain mutation in a patient with severe...

To find novel variants and explore potential mechanism of triglyceride metabolism by resequencing apoA5 gene in patients with severe hypertriglyceridemia.

The apoA5 gene in the patients with severe hypertriglyceridemia were resequenced, who had been excluded with variants in LPL or apoCII. With constructed apoA5 cDNA expression vectors, transiently expression was observed in vitro and the protein expression was detected by Western blot and (35)S-labeled immunoprecipitation.

The mutations of T184S and V153M were found in a patient with heterozygous variants in apoA5, and T184S was not reported before. Both mutant and wild type apoA5 cDNA expression vectors were constructed successfully. Western blot and immunoprecipitation showed they can be expressed in the cell and the mutational apoA5 can be secreted from the cell as well as wild type.

A novel mutation in apoA5 was found in a patient with severe hypertriglyceridemia, which has the potential damaging effect for the function of this protein but not the secretion function. It need further study on the interaction of apoA5 and other related proteins.