Enfermedad de Huntington. Revisión.

摘要: Huntington s disease (HD) is a hereditary autosomal dominant neurodegenerative characterized by motor, cognitive and psychiatric symptoms. It affects about 1 in 10.000 individuals. The onset of symptoms typically occurs the third or fourth decade life, though it may appear at any age. molecular basis expansion trinucleotide CAG first exon gene on chromosome four (4p 16.3). This encodes protein huntingtin 3136 amino acids. mutation produces an expanded stretch glutamine (Gln) residues. CAG/polyGln has 6 to 39 units normal individuals 36 180 HD patients. function pathogenic mechanisms caused polyGln mutant remain incompletely characterized. Huntingtin appears be associated with synaptic vesicles /or microtubules seems have important role vesicular transport and/or binding cytoskeleton. thought that this embryogenesis its form alters mitochondrial respiratory chain. toxic gain could either overactivity introducInvestigacion Clinica 41(2): 2000 118 Bonilla