Somatic CAG Repeat Stability in a Transgenic Sheep Model of Huntington's Disease.
J Huntingtons Dis
; 13(1): 33-40, 2024.
Article
em 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.
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Texto completo:
1
Base de dados:
MEDLINE
Assunto principal:
Doença de Huntington
Limite:
Animals
/
Child
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Child, preschool
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Humans
Idioma:
En
Ano de publicação:
2024
Tipo de documento:
Article