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 |
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Format: | Artikel |
Sprache: | eng |
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Online-Zugang: | Volltext |
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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. |
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ISSN: | 0002-9297 1537-6605 |
DOI: | 10.1016/j.ajhg.2015.09.003 |