Pathophysiology of lipid-related disease

Alterations in lipids and lipoproteins are not only key causal factors in atherosclerotic cardiovascular disease and overall cardiovascular risk, but are also closely associated with the development of other major health conditions, such as type 2 diabetes, metabolic syndrome, obesity, Alzheimer’s disease, and certain types of cancer. In this context, the research lines of our group focus on deepening the understanding of the role of lipid alterations in these diseases, with the aim of identifying and developing novel biomarkers and potential targeted therapies that contribute to improving diagnosis, risk stratification, and clinical management of patients.

Main lines of Research and Innovation

• Lipoprotein metabolism and cardiovascular risk. We focus on the study of lipoproteins, particularly remnant lipoproteins, low-density and high-density lipoproteins (LDL and HDL), and their role as potential prognostic biomarkers. We investigate their utility in supporting pharmacological and nutritional interventions aimed at correcting lipoprotein dysfunctions in patients at high cardiovascular risk, as well as in patients with endocrine cancers and Alzheimer’s disease. (Joan Carles Escolà-Gil, Marina Canyelles, Mireia Tondo, and Noemi Rotllan).
• We study the role of novel microRNAs as regulators of lipoprotein metabolism and atherosclerosis and evaluate their therapeutic potential in vivo through the use of recombinant HDL. (Noemi Rotllan).
• Molecular diagnosis and characterization of metabolic disorders. We develop and validate innovative analytical methods for the study of metabolic and endocrine disorders. Thanks to the high volume of samples processed and our scientific output, our laboratory has become a national reference center for the diagnosis of inherited dyslipidemias. (Joan Carles Escolà-Gil, and Marina Canyelles)
• Biomarkers in neurodegenerative diseases. In collaboration with the Memory Unit of the Neurology Department at Sant Pau's Hospital, we work on the development and implementation of blood-based biomarkers for the diagnosis of neurodegenerative diseases, including Alzheimer’s disease, Parkinson’s disease, and other dementias. These biomarkers enable the detection of key pathophysiological processes, support diagnosis, monitor disease progression, and evaluate treatment response (Mireia Tondo).

Scientific Challenges

• To develop and validate lipoprotein-related predictive biomarkers for diabetes and cardiovascular disease in populations at high metabolic risk, to improve risk stratification and personalized prevention.
• To deepen the understanding of the molecular mechanisms regulating alterations in lipoprotein metabolism in type 1 and type 2 diabetes, with particular focus on key proteins such as ANGPTL3 and APOC3.
• To evaluate the therapeutic potential of synthetic HDL and targeted rHDL–miRNA–based therapies in atherosclerosis regression.
• To unravel the complex interaction between lipid metabolism and Alzheimer’s disease progression in Down syndrome, with the aim of identifying novel pathogenic mechanisms and potential therapeutic targets.

Contact

Joan Carles Escolà-Gil
jescola@santpau.cat