Trinucleotide (CAG) repeat length is positively correlated with the degree of DNA fragmentation in Huntington's disease striatum

• Published in: Neuroscience 1998-11, Vol.87 (1), p.49-53
• Main Authors: Butterworth, N.J, Williams, L, Bullock, J.Y, Love, D.R, Faull, R.L.M, Dragunow, M
• Format: Article
• Language: English
• Subjects: Adult; Aged; Alzheimer Disease - pathology; apoptosis; Biological and medical sciences; CAG repeats; Corpus Striatum - pathology; Degenerative and inherited degenerative diseases of the nervous system. Leukodystrophies. Prion diseases; DNA Fragmentation; Female; Humans; Huntington Disease - genetics; Huntington Disease - pathology; Huntington's disease; Medical sciences; Middle Aged; Neurology; Reproducibility of Results; Severity of Illness Index; Trinucleotide Repeats
• ISSN: 0306-4522; 1873-7544
• DOI: 10.1016/S0306-4522(98)00129-8

Recent studies using DNA fragmentation assays suggest a role for apoptosis in cell death in Huntington's disease. In this study, we investigated the relationship between the degree of DNA fragmentation and the number of trinucleotide (CAG) repeats of the Huntington's disease gene in striatal tissue from Huntington's disease brains. We used frozen striatal tissue from 27 post mortem Huntington's disease brains (graded 0–4 on the Vonsattel classification, post mortem delay ranging from 4 to 41 h), plus control sections which were age, sex and post mortem delay matched from neurologically normal and Alzheimer's diseased striatal tissue. Our results show a significant positive correlation between the number of CAG repeats in the Huntington's disease gene and the degree of DNA fragmentation in Huntington's disease striatum. These results suggest that expanded CAG repeats in the Huntington's disease gene may lead to neuronal degeneration in Huntington's disease through an apoptotic mechanism.