IDIBELL and CIBER researchers identify a new genetic disease that affects the development of the nervous system and causes liver failure

  • RINT1 mutations would be causing a deregulation of fat metabolism and intracellular communication of energy production.
  • This is a significant advance in the understanding of this disease, and opens new perspectives for diagnosis and possible treatment in the future.
NO Pujol JCI RINT1_Imatge noti

The IDIBELL Neurometabolic Diseases laboratory, through the application of whole genome sequencing technology and advanced computational algorithms, has led an innovative study that has identified a new rare disease caused by defects in the RINT1 protein. This protein plays a crucial role in the regulation of fat metabolism and the intracellular communication of energy production. The results of are published this week in the Journal of Clinical Investigation, being highlighted on its cover.

This new rare genetic disorder manifests in childhood and causes neurological symptoms such as problems with stability and balance while walking (ataxia), stiffness in the lower extremities (spastic paraparesis), optic nerve atrophy and skeletal malformations, as well as neurodevelopment delays. Some patients may experience fulminant liver failure, even before developing neurological symptoms.

Dr. Aurora Pujol, coordinator of the study at IDIBELL, member of the CIBER for Rare Diseases (CIBERER) and ICREA Research Professor, stated: “This discovery will allow naming the disease of children who go to the ICU for a liver failure, or have a delay in neurodevelopment, facilitating the diagnosis of new cases.” And she continues: “The families that we have identified in this study had gone without response for 10 years; now that we have a diagnosis, the door is open to finding a therapy. This type of project also allows us to expand scientific knowledge and answer key questions about the regulation of lipid metabolism at the cellular level and its impact on the brain and liver.

This project has been financed thanks to the support of CIBERER, La Marató de TV3, the PERIS-URDCat Genomic Medicine project of the Department of Health of the Generalitat de Catalunya, the Fundació Hesperia and the Ministry of Health (FIS); and it has been carried out thanks to the collaboration with renowned international experts such as Professor Jean Laurent Casanova (Rockefeller University and Imagine Institute Paris), Dr. Maria Vazquez Cancela (Teresa Herrera Pediatric Hospital, A Coruña) and Dr. Agustí Rodriguez -Palmero (Germans Trias Hospital, Badalona).



The Bellvitge Biomedical Research Institute (IDIBELL) is a biomedical research center created in 2004. It is participated by the Bellvitge University Hospital and the Viladecans Hospital of the Catalan Institute of Health, the Catalan Institute of Oncology, the University of Barcelona and the City Council of L’Hospitalet de Llobregat.

IDIBELL is a member of the Campus of International Excellence of the University of Barcelona HUBc and is part of the CERCA institution of the Generalitat de Catalunya. In 2009 it became one of the first five Spanish research centers accredited as a health research institute by the Carlos III Health Institute. In addition, it is part of the “HR Excellence in Research” program of the European Union and is a member of EATRIS and REGIC. Since 2018, IDIBELL has been an Accredited Center of the AECC Scientific Foundation (FCAECC).

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