Our research is especially focused on the molecular diagnosis of dyslipidemias of genetic origin. Among dyslipidemias, Familial Hypercholesterolemia (FH) stands out for its impact on health. FH is an important risk factor in the development of early cardiovascular disease. Patients with pathogenic variants in the main genes involved in FH (LDLR, APOB, PCSK9, and LDLRAP1) are at high risk of premature coronary disease. The autosomal dominat hipercolesterolemia is caused by pathogenic variants at LDLR, APOB or PCSK9 genes. Patients with FH have a 50% of having a child with the condition. In this context, early detection of genetic alterations in patient´s relatives is essential in order to stablish an early treatment. Genetic studies of the family have proven to be cost-effective. The massively parallel sequencing technology (NGS) provide an useful tool to carry out this type of studies. However, it is important not only the detection of new variants but the characterization of them to determine their impact or pathogenicity. For this purpose, our research group has developed and validated functional in vitro studies for the characterization of genetic variants in the main genes associated with FH.
An important percentage of patients with hypercholesterolemia do not present pathogenic variants in the most frequent genes. Our group has a line of research focused on the search for new candidate genes and epigenetic causes related with altered lipid metabolism. We have developed in vitro studies to determine the impact of microRNAs on the expression of LDLR and PCSK9.
In addition to FH, we also study other genetic dyslipidemias such as familial hypertriglyceridemia and other “rare” dyslipidemias that are often not diagnosed with the usual diagnostic tools.

Translational research:

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