Analysis of ICAM-1 expression and alternative spliced isoforms in acid sphingomyelinase deficiency


Martí Garriga, Pau


This work is mainly about LDs known as NPD, which consist of an ASM deficiency, hence causing abnormal lysosomal functioning in human cells. In this project we have focused on ICAM-1, a promising cell-surface receptor which isoforms offers an interesting potential to achieve direct and specific drug targeting avoiding off-target effects, hence increasing the drug affinity for a specific isoform expressed in a certain tissue with a particular pathology. Thus, enhancing drug delivery approaches against NPD based on it. From previous studies in mice, we hypothesized the presence of human ICAM-1 in human fibroblasts. Therefore, we decided to investigate and target individual ICAM-1 alternative-spliced isoforms to achieve improved DDS towards ICAM-1.
Consequently, we tried to confirm these hypotheses studying healthy human fibroblasts models of inflammation and lysosomal disorders as well as NPD cell models with and without inflammation. Therefore, obtained results makes us confirm the presence of human ICAM-1 while, not conclusive results were found to state the presence of human ICAM-1 isoforms in these cells lines under the studied conditions. However, some interesting results regarding ICAM-1 isoforms were obtained, for which the data must be understood as preliminary only.

Keywords: Lysosomal diseases (LDs), Acid sphingomyelinase (ASM) deficiency, Niemann-Pick disease (NPD), Intercellular adhesion molecule-1 (ICAM-1).



Guerra Rebollo, Marta 
Muro, Sílvia


IQS SE - Undergraduate Program in Biotechnology