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A study applies iPSC technology to Sanfilippo syndrome research

By 26 de October de 2015No Comments
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D'esquerra a dreta, els investigadors del'IBUB Lluïsa Vilageliu, Isaac Canals i Daniel Grinberg. Source: UB.

A study applies iPSC technology to Sanfilippo syndrome research

Sanfilippo type c syndrome is a lysosomal storage disorder caused by mutations in the HGSNAT gene that leads to progressive neurodegeneration. A study, which has just been published in the journal Stem Cell Reports, has generated patient-specific induced pluripotent stem cells (iPSC) which can contribute to know better disease’s pathological mechanisms and design new therapeutic options. A group of researchers from the Institute of Biomedicine of the University of Barcelona (IBUB) and Institute for Bioengineering of Catalonia (IBEC) at PCB has participated in the study. 

The investigation has generated mature neurons from patient-specific iPSC lines that recapitulate the main characteristics of the disease, those not present in genetically corrected patient-specific iPSC-derived cultures overexpressing the cDNA of the HGSNAT gene.

Furthermore, neuronal networks organized in vitro from mature patient-derived neurons showed early defects in neuronal activity, network-wide degradation, and altered effective connectivity. Findings establish the importance of iPSC-based technology to identify early functional phenotypes, which can in turn shed light on the pathological mechanisms occurring in Sanfilippo syndrome. The technology can be also useful to analyse potential therapeutic compounds that could prevent the onset of neurodegeneration.

Daniel Grinberg, Isaac Canals and Luïsa Vilageliu, researchers in the Department of Genetics and members of IBUB and the Centre for Biomedical Network Research on Rare Diseases (CIBERER), have collaborated in the study, together with Jordi Soriano and Javier G. Orlandi, experts from the Faculty of Physics, and the research group led by Angel Raya, director of the Center of Regenerative Medicine in Barcelona and researcher at IBEC.

Article reference:

Canals I., Soriano J, Orlandi J. G., Torrent R., Richaud-Patin Y., Jiménez-Delgado S., Merlin S., Follenzi A., Consiglio A., Vilageliu Ll., Grinberg D., Raya A. “Activity and High-Order Effective Connectivity Alterations in Sanfilippo C Patient-Specific Neuronal Networks”. Stem Cell Reports, October 2015. DOI: 10.1016/j.stemcr.2015.08.016