Where Ideas grow

Neurolipid Biology


The goal of the NeuroLipid Biology group is to understand how lipid synthesis and catabolism govern biological and functional processes in the healthy nervous tissue and in neurometabolic disorders. We are particularly interested in the role that ether-phospholipids play in neuron excitability, axon growth, and myelin synthesis. Using mouse models, we combine in vivo and in vitro studies to integrate physiological cell processes with disease states, and the development new therapeutic pre-clinical approaches.



The impact of lipid dysregulation in neurologic disorders is evident by the number and severity of neurometabolic diseases. However, we are limited in understanding the function of lipids and how fundamental cellular processes and mechanisms are affected by lipid dysregulation, and thus mediate tissue pathology and disease. Previous work highlighted the consequences of branched-chain fatty acid accumulation in ataxia, and we identified cholesterol and sphingomyelin as novel myelin-associated inhibitors that affect axon growth and regeneration.

Currently, our research is focused on the study of plasmalogens, a class of phospholipids highly enriched in nervous tissue, whose deficiency causes a rare peroxisomal disorder, rhizomelic chondrodysplasia punctata (RCDP). Previous work allowed us to unravel the genetic basis of RCDP and attain an understanding of the pathology through the usage of mouse models. In line with our goal of understanding the fundamental processes and mechanisms governed by plasmalogens, we unraveled that these lipids are crucial for Schwann cell differentiation and myelination, as plasmalogens are essential for the initiation of the signaling cascade mediated by activation at the plasma membrane of Protein kinase B, also known as AKT. Our aim is to expand the understanding of how fundamental cellular processes are governed by plasmalogens, and how a dysregulation of these processes mediates the pathophysiology of RCDP and other neurological disorders (e.g. Alzheimer's and Parkinson's) known to develop defects in plasmalogen levels. The knowledge gathered in understanding the mechanisms behind the pathology is also used to design and validate effective pre-clinical therapeutic strategies.

Pseudocolored electron microscopy images of synapses in the central nervous system (CNS) and in the peripheral nervous system (PNS)