Structural studies of proteins involved in neurodegenerative and muscular diseases 2

人类基因组的完成以及基因图谱技术的快速进步首次为在分子水平上探讨遗传性疾病打开了可能性。我们通过了解疾病的结构/功能关系来研究人类疾病。如果我们考虑到DNA的结构决定，这个包含全部遗传信息的分子揭示了生命的秘密，那么分子结构在现代生物学和医学中的作用可能会被直接认识到。我们的实验室专注于确定与神经退行性疾病(如亨廷顿舞蹈病、Friedreich共济失调和脆性X综合征)以及肌肉病理(如不同类型的心肌疾病)有关的蛋白质的3D结构。尽管症状不同，但这些都是无法治愈的疾病，都有一个共同的事实，即在受影响的患者中，由相应基因编码的蛋白质会以不同的形式产生，或者数量较少，直到完全缺失。通过确定所涉及的蛋白质的形状，我们可以了解这些突变对蛋白质功能的作用，并最终设计新的治疗策略。我们使用生化和生物物理技术的组合，帮助我们重建感兴趣的蛋白质的细胞角色，并表征它们的结构/功能关系。“

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."