This Month in Genetics

Huntington disease is a common example used for initiating discussion about presymptomatic genetic testing when no therapeutic intervention is available. Recent work in mice provides a glimmer of hope that this might not always be true. Budworth et al. knew that the enzyme OGG1 is involved in DNA re...

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Veröffentlicht in:American journal of human genetics 2015-10, Vol.97 (4), p.505-506
1. Verfasser: Garber, Kathryn B.
Format: Artikel
Sprache:eng
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Zusammenfassung:Huntington disease is a common example used for initiating discussion about presymptomatic genetic testing when no therapeutic intervention is available. Recent work in mice provides a glimmer of hope that this might not always be true. Budworth et al. knew that the enzyme OGG1 is involved in DNA repair and, as a by-product, contributes to Htt-repeat instability. Because loss of OGG1 activity prevents somatic expansion of Htt repeats, Budworth et al. used this as a tool to explore in mice the role of somatic expansion in the age of onset of Huntington disease.
ISSN:0002-9297
1537-6605
DOI:10.1016/j.ajhg.2015.09.003