Somatic CAG Repeat Stability in a Transgenic Sheep Model of Huntington's Disease.
J Huntingtons Dis
; 13(1): 33-40, 2024.
Article
de En
| MEDLINE
| ID: mdl-38393920
ABSTRACT
Somatic instability of the huntingtin (HTT) CAG repeat mutation modifies age-at-onset of Huntington's disease (HD). Understanding the mechanism and pathogenic consequences of instability may reveal therapeutic targets. Using small-pool PCR we analyzed CAG instability in the OVT73 sheep model which expresses a full-length human cDNA HTT transgene. Analyses of five- and ten-year old sheep revealed the transgene (CAG)69 repeat was remarkably stable in liver, striatum, and other brain tissues. As OVT73 sheep at ten years old have minimal cell death and behavioral changes, our findings support instability of the HTT expanded-CAG repeat as being required for the progression of HD.
Mots clés
Texte intégral:
1
Collection:
01-internacional
Base de données:
MEDLINE
Sujet principal:
Maladie de Huntington
Limites:
Animals
/
Child
/
Child, preschool
/
Humans
Langue:
En
Journal:
J Huntingtons Dis
Année:
2024
Type de document:
Article
Pays d'affiliation:
Nouvelle-Zélande