Distribution of trinucleotide repeat sequences across a 2 Mbp region containing the Huntington's disease gene

1994 ◽  
Vol 3 (1) ◽  
pp. 73-78 ◽  
Author(s):  
H. Hummerich ◽  
S. Baxendale ◽  
R. Mott ◽  
S. F.Kirby ◽  
M. E.MacDonald ◽  
...  
Keyword(s):  
Huntington's Disease ◽  
Huntington’S Disease ◽  
Disease Gene ◽  
Trinucleotide Repeat ◽  
Repeat Sequences

Prevalence of Huntington's disease gene CAG trinucleotide repeat alleles in patients with bipolar disorder

2015 ◽  
Vol 17 (4) ◽  
pp. 403-408 ◽  
Author(s):  
Eliana Marisa Ramos ◽  
Tammy Gillis ◽  
Jayalakshmi S Mysore ◽  
Jong-Min Lee ◽  
Isabel Alonso ◽  
...  
Keyword(s):  
Bipolar Disorder ◽  
Huntington's Disease ◽  
Huntington’S Disease ◽  
Disease Gene ◽  
Trinucleotide Repeat

scholarly journals RNA Sequencing of Human Peripheral Blood Cells Indicates Upregulation of Immune-Related Genes in Huntington's Disease

2020 ◽  
Vol 11 ◽  
Author(s):  
Miguel A. Andrade-Navarro ◽  
Katja Mühlenberg ◽  
Eike J. Spruth ◽  
Nancy Mah ◽  
Adrián González-López ◽  
...  
Keyword(s):  
Gene Expression ◽  
Huntington's Disease ◽  
Huntington’S Disease ◽  
Peripheral Blood ◽  
Blood Cells ◽  
Trinucleotide Repeat ◽  
Neurodegenerative Disorder ◽  
Gene Expression Signature ◽  
Interferon Response ◽  
Peripheral Blood Cells

Huntington's disease (HD) is an autosomal dominantly inherited neurodegenerative disorder caused by a trinucleotide repeat expansion in the Huntingtin gene. As disease-modifying therapies for HD are being developed, peripheral blood cells may be used to indicate disease progression and to monitor treatment response. In order to investigate whether gene expression changes can be found in the blood of individuals with HD that distinguish them from healthy controls, we performed transcriptome analysis by next-generation sequencing (RNA-seq). We detected a gene expression signature consistent with dysregulation of immune-related functions and inflammatory response in peripheral blood from HD cases vs. controls, including induction of the interferon response genes, IFITM3, IFI6 and IRF7. Our results suggest that it is possible to detect gene expression changes in blood samples from individuals with HD, which may reflect the immune pathology associated with the disease.

scholarly journals Linkage disequilibrium and recombination make a telomeric site for the Huntington's disease gene unlikely.

1991 ◽  
Vol 28 (8) ◽  
pp. 520-522 ◽  
Author(s):  
L Barron ◽  
A Curtis ◽  
A E Shrimpton ◽  
S Holloway ◽  
H May ◽  
...  
Keyword(s):  
Linkage Disequilibrium ◽  
Huntington's Disease ◽  
Huntington’S Disease ◽  
Disease Gene

scholarly journals Loss of extra-striatal phosphodiesterase 10A expression in early premanifest Huntington's disease gene carriers

2016 ◽  
Vol 368 ◽  
pp. 243-248 ◽  
Author(s):  
Heather Wilson ◽  
Flavia Niccolini ◽  
Salman Haider ◽  
Tiago Reis Marques ◽  
Gennaro Pagano ◽  
...  
Keyword(s):  
Huntington's Disease ◽  
Huntington’S Disease ◽  
Disease Gene ◽  
Gene Carriers ◽  
Phosphodiesterase 10A

scholarly journals Esculetin Provides Neuroprotection against Mutant Huntingtin-Induced Toxicity in Huntington’s Disease Models

2021 ◽  
Vol 14 (10) ◽  
pp. 1044
Author(s):  
Letizia Pruccoli ◽  
Carlo Breda ◽  
Gabriella Teti ◽  
Mirella Falconi ◽  
Flaviano Giorgini ◽  
...  
Keyword(s):  
Huntington's Disease ◽  
Huntington’S Disease ◽  
Neuronal Death ◽  
Trinucleotide Repeat ◽  
Neurodegenerative Disorder ◽  
Positive Impact ◽  
Neuroprotective Effects ◽  
Drosophila Model ◽  
Exon 1 ◽  
Transgenic Drosophila

Huntington’s disease (HD) is a neurodegenerative disorder caused by an abnormal CAG trinucleotide repeat expansion within exon 1 of the huntingtin (HTT) gene. This mutation leads to the production of mutant HTT (mHTT) protein which triggers neuronal death through several mechanisms. Here, we investigated the neuroprotective effects of esculetin (ESC), a bioactive phenolic compound, in an inducible PC12 model and a transgenic Drosophila melanogaster model of HD, both of which express mHTT fragments. ESC partially inhibited the progression of mHTT aggregation and reduced neuronal death through its ability to counteract the oxidative stress and mitochondria impairment elicited by mHTT in the PC12 model. The ability of ESC to counteract neuronal death was also confirmed in the transgenic Drosophila model. Although ESC did not modify the lifespan of the transgenic Drosophila, it still seemed to have a positive impact on the HD phenotype of this model. Based on our findings, ESC may be further studied as a potential neuroprotective agent in a rodent transgenic model of HD.

Sign in / Sign up

Export Citation Format

Share Document