The discovery of the HD mutation represented a pivotal moment in the field of genetics and neurology, significantly enhancing our understanding of the disease and creating opportunities for future treatments. The progress made and the knowledge gained during this journey catalyzed the development of ...
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...
Journal of Medical GeneticsShaw, M., and Caro, A., 1982, The mutation rate to Huntington’s chorea, J. Med. Genet. 19 : 161–167. View ArticleShaw M, Caro A. The mutation rate to Huntington's chorea. J Med Genet. 1982 Jun; 19 (3):161–167....
cistron,gene,factor- (genetics) a segment of DNA that is involved in producing a polypeptide chain; it can include regions preceding and following the coding DNA as well as introns between the exons; it is considered a unit of heredity; "genes were formerly called factors" ...
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
What are four possible sources of genetic mutation? What type of genetic mutation is progeria? What are genetic imprinting mutations? What genetic mutations produce the greatest risk for cancer? What type of mutation is albinism? What chromosome has the genetic mutation for Huntington's disease?
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 ...
MacDonald, M. E. et al. A novel gene containing a trinucleotide repeat that is expanded and unstable on Huntington’s disease chromosomes. Cell 72, 971–983 (1993). Google Scholar Amir, R. E. et al. Rett syndrome is caused by mutations in X-linked MECP2, encoding methyl-CpG-binding...
the mutation—essentially causing a contraction of the expansion. In the lab, the research team was able to successfully reduce the repeat expansions in the brain of a Huntington's disease mouse model, as well as in cells extracted from tissues of individuals affected by Huntington's disease. ...