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3-Nitropropionic acid as a tool to study the mechanisms involved in Huntington's disease: past, present and future

Isaac Túnez1, Inmaculada Tasset, Verónica Pérez-De La Cruz

  • 1Departamento de Bioquímica y Biología Molecular, Facultad de Medicina, Instituto Maimónides de Investigaciones Biomédicas de Córdoba, Universidad de Córdoba, Av. Menéndez Pidal s/n, 14004 Córdoba, Spain. fm2tufii@uco.es

Molecules (Basel, Switzerland)
|March 26, 2010
PubMed

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Huntington disease or HD is a progressive, fatal neurodegenerative disorder inherited in an autosomal dominant pattern.PathophysiologyIt is caused by expansion of the CAG trinucleotide repeat in the HTT gene on chromosome 4 (4p16.3), producing an abnormal huntingtin protein with an expanded polyglutamine tract. This misfolded protein disrupts cellular function, leading to neuronal death. Normal alleles have ≤26 repeats, 27–35 are intermediate (risk of expansion), 36–39 show reduced penetrance,...