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Projects. Life and Matter Sciences

Identification of the function of the Wt1gene in Huntington's disease

Lead Researcher:
Ofelia M. Martínez Estrada

Research Centre:
Departamento de Biología Celular. Universidad de Barcelona.


Ofelia M. Martínez EstradaHuntington's disease (HD) is a neurodegenerative disease caused by the expansion of CAG triplets which code the synthesis of glutamine in the Huntington protein. Several molecular mechanisms have been identified by means of which mutated Huntington (mHtt) is able to produce neuronal toxicity in advanced stages of the disease. Nevertheless, there is practically no information about the molecular mechanisms involved in the toxicity of this in early stages. The Wt1gene codes for a transcription factor that is expressed dynamically during the development of the brain. Recently an increase in its expression has been described in a mouse HD model and in patients with this disease. Our preliminary data suggest that the over-expression of Wt1 in neurons may be associated with an increase in susceptibility to death. During the past 10 years new functions of WT1 have been identified in different tissues and organs, although its role in the brain has yet to be studied. The main aim of our project is to identify the functions of WT1 during brain development and to understand the meaning of its over expression in HD. By understanding the functions of WT1 in brain development we will be able to elucidate its role in the development of HD. The answer to this question is critical and may indicate whether peptide vaccine against WT1 which is currently used in the treatment of cancer may have therapeutic potential in the treatment of HD.

Ofelia M. Martínez Estrada

Honours graduate in Microbiology, University of La Habana, she obtained her doctorate in Biology in 2001, University of Barcelona (UB). Her doctoral thesis was directed by Dr. Gianfranco Bazzoni and Professor Elisabetta Dejana, Instituto "Mario Negri", Milan. In 2001 she made her first postdoctoral visit to the UB in the laboratory of Professor Senén Vilaró. In 2006 she made her second postdoctoral visit in the laboratory of Professor Nick Hastie, Human Genetics Unit-MRC, Edinburgh. The main aim of her research was to identify the role of Wt1 during cardiovascular development. In 2011 she joined the Cellular Biology department of the UB as Ramón y Cajal researcher. She currently directs a research group with the main aim of identifying new functions of the Wt1 during embryonic development, and its possible involvement in the development of diseases. Dr. Martínez Estrada is the author of widely cited articles published in prestigious journals such as Nature Genetics, Developmental Cell, Development, Human Molecular Genetics and Nature Cell Biology. She has been awarded several internationally prestigious grants throughout her scientific career, including a Marie Curie European fellowship. Her research is currently financed by a MINECO project and a Marie Curie Reintegration grant.

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