Progressive Polyglutamine Repeat Expansion in Peripheral Blood Cells and Sperm of Transgenic Huntington’s Disease Monkeys

The expanded CAG repeat results in somatic mosaicism and genetic anticipation in Huntington’s disease (HD). Here we report a longitudinal study examining CAG repeat instability in lymphocytes and sperm of three HD monkeys throughout their whole life-span that encompass the prodromal to symptomatic s...

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Detalles Bibliográficos
Autores principales: Clever, Faye, Cho, In Ki, Yang, Jingjing, Chan, Anthony W.S.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: IOS Press 2019
Materias:
Research Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6839466/
https://www.ncbi.nlm.nih.gov/pubmed/31561381
http://dx.doi.org/10.3233/JHD-190359
Descripción
Sumario:The expanded CAG repeat results in somatic mosaicism and genetic anticipation in Huntington’s disease (HD). Here we report a longitudinal study examining CAG repeat instability in lymphocytes and sperm of three HD monkeys throughout their whole life-span that encompass the prodromal to symptomatic stages of HD. We demonstrate a progressive increase in CAG repeat length in lymphocytes and sperm as the animals aged. We also examined the impact of CAG repeat length on expansion rate, which showed a clear linear correlation up to 62Q, and high instability after. Our findings stress the importance of further investigation in CAG instability in peripheral blood cells longitudinally.

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