[Method for the molecular diagnosis of lipoprotein lipase genetic deficiency]

Modifications of plasma lipid profile is one of the major causes of a high cardiovascular risk. They can be the consequences of mutations in the gene encoding lipoprotein lipase (LPL), an enzyme that has an important role in the metabolism of plasma lipoproteins. The aim of the present study was to put into practice a method for detecting the Gly188Glu mutation in the LPL gene. The search was performed on a group of 107 patients with cardiovascular diseases and/or dyslipidemias. DNA investigation consisted, in a first stage, in the enzymatic digestion of exon 5 of the LPL gene, previously amplified by the PCR reaction, with the AvaII restriction endonuclease. Three of the subjects were further investigated by the sequencing of exon 5, in order to search for the presence of other mutations. We didn't detect the Gly188Glu mutation in none of the cases, and no other mutation in exon 5 was found in the three patients tested by DNA sequencing. We conclude that the amplification-restriction method can be used for the detection of known mutations in the LPL gene, allowing an early identification of the subjects with a high cardiovascular risk and the onset of the appropriate therapy. In order to detect mutations which don't affect the recognition sequence of a restriction enzyme and eventually new mutations, the sequencing of that gene is recommended.