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Projects. Life and Matter Sciences

Models for congenital muscular dystrophies: the search for phenotype suppressors

Lead Researcher:
Enrique Martín Blanco

Research Centre:
Instituto de Biología Molecular de Barcelona. CSIC.


Enrique Martín BlancoSeveral congenital muscular dystrophies (CMD) are in fact glycosylation disorders. Several genes involved in the Walker-Warburg syndrome (WWS) and other CMDs have been identified, all of them cause hypoglycosylation of α-Distroglican (α-DG). Of these genes, only the functions of POMT1 and POMT2, which are responsible for catalysis of the first stage of synthesis of O-mannosylglycans in the endoplasmic reticulum, have been elucidated.

No specific treatment exists for any CMD, and palliative care is essential to preserve the functional capacity of affected individuals, to increase their life expectancy. However, recent studies indicate that a potential effective therapy would be the stimulation of glycosylation in the affected tissues. Within this context, genetic identification of phenotype modifiers produced by lack of POMTs functioning and their characterisation would open the doors to an exploration of new diagnostic methods and alternative therapies.

Our main aim is to identify genetic suppressors of the phenotype (muscular and behavioural disorder) resulting from the loss of POMTs function. For this purpose we will initially use genetic tools in Drosophila, where a model of POMT deficiency was previously established. In a second stage, we will move on to a vertebrate modelling system (zebra fish) where we will undertake functional analysis of the identified suppressors. Over the long term, the information obtained in this proposed project may be fundamental in the design of possible gene therapy approaches to suppress CMDs or relieve their symptoms.

Researcher's web address:

Enrique Martín Blanco

Born in Madrid on 23 January 1958, he graduated in Biology from the Universidad Complutense and was awarded a doctorate in this discipline in 1986. In 1988 he went to the University of California San Francisco, with Tom Kornberg, financed by the CSIC, the Fulbright Commission and the Gordon Tomkins Fund, to research the Engrailed homeodomain at a molecular and biochemical level. He returned to Spain in 1991, to the Centro de Biología Molecular Severo Ochoa to work with Antonio García-Bellido on bilateral symmetry in Drosophila with a Rejoining contract. In 1993 he moved to the University of Cambridge where he worked with Alfonso Martínez-Arias, financed by the Wellcome Trust, a Marie Curie Fellowship and the Newton Trust. There he analysed the role of the JNK signalling cascade in the control of morphogenetic processes. He returned to Spain in 1998, to the CBMSO, and after 2001 he joined the Instituto de Biología Molecular, Barcelona as a Tenured Scientist of the CSIC where, in 2005, he progressed to become a Scientific Investigator. His interest centres on analysis of morphogenetic processes in Drosophila and Zebra fish. He has coordinated European Union projects and has co-organised European congresses on Drosophila and Zebra fish.

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