Lipoprotein Lipase: a Bioinformatics Criterion for Assessment of Mutations as a Risk Factor for Cardiovascular Disease

Lipoprotein lipase (LPL) is a key enzyme in lipid metabo- lism. Decrease of the LPL en- zymatic activity leads to ele- vated triglycerides (TG) and reduced high-density lipopro- tein (HDL-C levels), both risk factors for cardiovascular dis- ease (CVD). Therefore, muta- tions, which decrease the LPL activity, may confer suscepti- bility to CVD. Here, the infor- mational spectrum method (ISM), a virtual spectroscopy method for structure/function analysis of nucleotide and protein sequences, is applied for identification of evolu- tionary highly conserved in- formation encoded by the pri- mary structure of LPL. It was demonstrated that mutations, which alter the LPL enzy- matic activity also alter this information. On the basis of this finding, an efficient and simple bioinformatics crite- rion for assessment of the pathogenic effect of LPL non- synonymous single nucleotide substitution as a risk factor of CVD has been proposed.