Structural studies of proteins involved in neurodegenerative and muscular diseases 2

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The accomplishment of the human genome together with the fast progresses made in gene mapping technology have opened for the first time the possibility of approaching hereditary disorders at a molecular level. We approach the study of human diseases by understanding their structure/function relationship. The role of the molecular structure in modern biology and medicine may be directly appreciated if we consider that structure determination of the DNA, the molecule which contains the whole genetic information, unveiled the secret of life. Our laboratory focuses on determining the 3D structure of proteins with specific interest for proteins involved in neurodegenerative diseases such as the Huntington Chorea, Friedreich ataxia, and Fragile X syndrome and muscular pathologies such as different types of cardio-myopathies. Despite the different symptoms, these diseases, all incurable, share the fact that in affected patients, the proteins encoded by the corresponding genes are produced in altered forms, or in smaller quantity down to their complete absence. By determining the shape of the proteins involved we can then understand the role of these mutations on the protein functions and ultimately design new therapeutical strategies. We use a combination of biochemical and biophysical techniques which help us to reconstruct the cellular role of the proteins of interest and characterise their structure/function relationship."