This Month in Genetics

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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Bibliographic Details
Published in:American journal of human genetics Vol. 97; no. 4; pp. 505 - 506
Main Author: Garber, Kathryn B.
Format: Journal Article
Language:English
Published: Chicago Elsevier Inc 01-10-2015
Cell Press
Subjects:
DNA repair
Enzymes
Genetic testing
Genetics
Huntingtons disease
Rodents
Online Access:Get full text
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Summary: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