New experimental model to promote research on the neurological illness of Niemann-Pick type C

Niemann-Pick type C disease is caused by the mutation in the NPC1 (95% of the times) and NPC2 genes, as stated at the end of last century. The new experimental models to study Niemann-Pick type C disease are, in particular, mice, and have been conducted by a team integrated by Marta Gómez Grau, Lluïsa Vilageliu and Daniel Grinberg, members of the Research Group on Human Molecular Genetics from the Department of Genetics, Microbiology and Statistics, in the Institute of Biomedicine of the University of Barcelona (IBUB), Research Institute Sant Joan de Déu (IRSJD), and the Center for Biomedical Research on Rare Diseases (CIBERER).

Other collaborators are Carme Auladell, from the Department of Cell Biology, Physiology and Immunology of the UB and the Center for Networked Biomedical Research on Neurodegenerative Diseases (CIBERNED); Mara Dierssen, from the Center for Genomic Regulation (CGR) and COBERER; Júlia Albaigès, from CRG, and Josefina Casas, from the Institute of Advanced Chemistry of Catalonia (IQAC-CSIC). The new study also counts with the support from Addi & Cassi Fund, an American foundation supporting research activity on this neurological disease.

New strategies to fight genetic diseases

At the moment there is no efficient treatment for this minority disease. Therefore, several research lines to bring new therapeutic strategies (pharmacology, genic therapy, etc.) are being developed .

The new animal models presented in the journal Scientific Reports are the only carriers of a mutation that could offer new opportunities to design future therapies for the disease. These treatments would be focused on improving the cutting and splicing processes in those affected by the illness.

In particular, the mice presented in the study are animal models bearing a mutation -homozygosis or heterozygosis- which generate a pseudoxeon, a sequencing of DNA bases adhering the traits of an exon, and therefore participating in the splicing when the mutation is present. This mutation was first described in a Spanish patient by the research group led by Daniel Grinberg and Lluïsa Vilageliu (Rodríguez-PAscau et al., Human Mutation, 2009). The research team that published this new advance in Scientific Reports is currently promoting research on future genic therapies based on the uses of antisense oligonucleotides.