Túnez I, Santamaría A
Departamento de Bioquímica y Biología Molecular, Facultad de Medicina,Universidad de Córdoba. Córdoba, España.
Rev Neurol. 2009;48(8):430-4.
Huntington's disease is an autosomal dominant hereditary disorder. This neurodegenerative illness is characterized by mutation of the huntingtin protein gene, causing the formation of intracellular protein aggregates.
Intensive research efforts have been made to investigate the molecular mechanism involved. For this reason, the development of animal and cellular models of Huntington's disease has offered alternative approaches to study of this disease. The alteration of succinate dehydrogenase activity has been linked to Huntington's disease. 3-nitropropionic acid is an inhibitor of this enzyme, prompting oxidative stress and death neuronal, mimic some aspects of Huntington's disease as anatomical, physiological and chemical changes.
This model is a useful tool to study the mechanisms involved in this disease and to evaluate new therapeutic strategies.
亨廷顿舞蹈症是一种常染色体显性遗传性疾病。这种神经退行性疾病的特征是亨廷顿蛋白基因突变，导致细胞内蛋白质聚集体的形成。
已经开展了深入的研究工作来探究其中涉及的分子机制。因此，亨廷顿舞蹈症动物模型和细胞模型的建立为研究这种疾病提供了替代方法。琥珀酸脱氢酶活性的改变与亨廷顿舞蹈症有关。3-硝基丙酸是这种酶的抑制剂，会引发氧化应激和神经元死亡，模拟亨廷顿舞蹈症的一些解剖学、生理学和化学变化方面。
这个模型是研究该疾病所涉及机制以及评估新治疗策略的有用工具。
