Jump to resource

Projects. Life and Earth Sciences

Modulation of the pathological accumulation of glycogen: therapeutic target for the treatment of Glycogenosis

Lead Researcher:
Joan J. Guinovart Cirera

Research Centre:
Instituto de Investigación Biomédica (IRB). Barcelona.

Synopsis: 

Joan J. Guinovart Cirera

Glucogenosis or glycogen storage diseases (GSD) are a set of infrequent pathologies characterised by an abnormal accumulation of glycogen. Lafora's disease (LD) is glucogenosis with devastating effects, characterised by the early onset of myoclonal epilepsy and the presence of intracellular inclusion bodies composed of abnormal glycogen. LD is caused by the mutation in genes that code for laforine and maline. Laforine/maline has been shown to be involved in the regulation of glycogen accumulation. On the other hand, glycogen accumulation has been described as toxic for neurons.

It has been hypothesized that the excessive accumulation of glycogen causes the dysfunction and/or death of specific cell types, and it is proposed to study whether the activation of mechanisms that limit the accumulation of glycogen represents a feasible therapeutic approach against GSD.

In the first months of this project, in vitro models were established and verified (cultures of neurons and fibroblasts) together with in vivo methods (transgenic mice and flies) based on the gain or loss of function in genes involved in glycogen metabolism. More specifically, embryonic fibroblasts were generated (MEFs) derived from transgenic mice of interest (wild-type, Nhlrc1 KO, Gys1 KO, Gbe1+/-) and different protocols were defined to trigger the accumulation of glycogen aggregates in these cells. Moreover, transgenic mice and flies have been created and characterised as having an increased accumulation of glycogen in neurons, and it was confirmed that this accumulation is harmful for the organism. Model mice for LD and APBD (adult polyglucosan body disease) are also under study. All these models are highly valuable for the study of molecular targets for the control of this accumulation.


Scientific production
1 paper at international conferences

Researcher's web address:
http://www.irbbarcelona.org/index.php/en/research/programmes/molecular-medicine/metabolic-engineering-and-diabetes-therapy



Joan J. Guinovart Cirera

Freeman of Tarragona (2007).

Degree in Pharmacy and Chemistry (1969), University of Barcelona. Doctorate in Pharmacy (1973), University of Barcelona. Post-doctoral stay in the Dept. of Pharmacology, University of Virginia, USA (1974-75).

Senior (later Tenured) Professor of Biochemistry, Univ. of Barcelona (1975-1983) and the Autonomous University, Barcelona (1983-1985). Professor of Biochemistry and Molecular Biology, Autonomous University, Barcelona (1986-1990) and Univ. of Barcelona (1990- ). Visiting Professor, Dept. of Biochemistry and Biophysics, Univ. of California San Francisco-UCSF (1992-93). Head of the Department of Biochemistry and Molecular Biology, Univ. of Barcelona (1995-2001). General Director of the Barcelona Science Park ("Parc Científic de Barcelona") (2001-2002) and its Biomedical Research Institute ("Institut de Recerca Biomèdica"), IRB-PCB" (2001-2005). The first Director of the private foundation IRB Barcelona (2005- ).

President of the Spanish Biochemistry and Molecular Biology Society - SEBBM (1996-2000). Member of the Executive Committee of the Federation of European Biochemical Societies - FEBS (1997-2005). President of the Confederation of Spanish Scientific Societies, COSCE (2004-2011). Member of the Executive Committee and Treasurer of the "International Union of Biochemistry and Molecular Biology" -IUBMB (2010- ).

Research activity centres on glycogen metabolism, with special emphasis on the study of alterations to this in diabetes and in neurodegenerative diseases. He has directed 32 doctoral theses and published more than 140 articles on this subject. Three of his patents have been transferred and another is in the process of being sold.

Holder of the "Narcís Monturiol" medal of the Catalonian Regional Government. Honorary Member of the SEBBM. Diploma of Honour of the FEBS. Permanent Member of the Royal National Academy of Pharmacy and Permanent Academician of the Royal Academy of Pharmacy of Catalonia. Member of the "Institute for Catalan Studies"


*All intellectual property rights belong to the author. Reproduction of all or part of the work without permission from the author is prohibited. © RAMÓN ARECES FOUNDATION. All rights reserved. 


Síguenos en

  • Twitter
  • Facebook
  • Flickr
  • Youtube
  • Slideshare

© 2007 Fundación Ramón Areces All rights reserved.

c/ Vitruvio, 5. 28006 Madrid (España) | Telephone: 91 515 89 82 | C.I.F.: G-28459311