The identification of an unstable trinucleotide repeat as the mutation responsible for Huntington's disease (HD) has given the hope that additional information can be provided about age of onset and mode of action of the mutated gene. We present in this paper results of a clinical and molecular...
The causative mutation for Huntington disease (HD), an expanded trinucleotide repeat sequence in the first exon of the huntingtin gene ( HTT ) is naturally polymorphic and inevitably associated with disease symptoms above 39 CAG repeats. Although symptom
and McLean Hospital have discovered a surprising mechanism by which the inherited genetic mutation known to cause Huntington's disease leads to the death of brain cells. The findings change the understanding of the fatal neurodegenerative disorder and suggest potential ways to delay or even prevent it...
What happens if a mutation causes a tRNA to be charged with the wrong amino acid? The genetic code for Huntington's disease is read in triplets. What would happen if you add 3 new nucleotides to a gene? What mutagen causes mutations by substi...
The mutation rate to Huntington's chorea. J Med Genet. 1982 Jun; 19 (3):161–167.Shaw M, Caro A. The mutation rate to Huntington's chorea. J Med Genet 1982;19:161-7.Shaw, M., Caro, A. (1982) The Mutation Rate to Huntington’s Chorea. J. Med. Genet. 19: pp. 161...
Huntington’s disease is a progressive neurodegenerative disease caused by mutation of the huntingtin (HTT) gene. The identification of mutation carriers before symptom onset provides an opportunity to intervene in the early stage of the disease course. Optimal biomarkers are of great value to reflect...
Huntington’s disease is a devastating neurogenerative disorder caused by a mutation in theHTTgene that results in cells producing abnormally large versions of the huntingtin protein. These expanded huntingtin proteins aggregate inside cells and damage them in various ways, although exactly how this res...
These data provide the first direct in vivo evidence of a role for wild-type htt in decreasing the cellular toxicity of mutant htt.Previous article in issue Next article in issue Introduction The mutation in Huntington disease (HD [MIM 143100; also see The Genome Database [accession number ...
1 Walker FO: Huntington's disease. Lancet 2007; 369: 218–228. 2 Harper PS: The epidemiology of Huntington's disease. Hum Genet 1992; 89: 365–376. 3 Kremer B, Goldberg P, Andrew SE et al: A worldwide study of the Huntington's disease mutation. The sensitivity and specificity of ...
For almost three decades, Huntington's disease has been a prototype for the application of genetic strategies to human disease. HD, the Huntington's disease gene, was the first autosomal defect mapped using only DNA markers, a finding in 1983 that helped