Abnormal Base Excision Repair at Trinucleotide Repeats Associated with Diseases: A Tissue-Selective Mechanism

More than fifteen genetic diseases, including Huntington’s disease, myotonic dystrophy 1, fragile X syndrome and Friedreich ataxia, are caused by the aberrant expansion of a trinucleotide repeat. The mutation is unstable and further expands in specific cells or tissues with time, which can accelerat...

Descripción completa

Detalles Bibliográficos
Autores principales: Goula, Agathi-Vasiliki, Merienne, Karine
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2013
Materias:
Review
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3924826/
https://www.ncbi.nlm.nih.gov/pubmed/24705210
http://dx.doi.org/10.3390/genes4030375
_version_ 1782303774090461184
author Goula, Agathi-Vasiliki
Merienne, Karine
author_facet Goula, Agathi-Vasiliki
Merienne, Karine
author_sort Goula, Agathi-Vasiliki
collection PubMed
description More than fifteen genetic diseases, including Huntington’s disease, myotonic dystrophy 1, fragile X syndrome and Friedreich ataxia, are caused by the aberrant expansion of a trinucleotide repeat. The mutation is unstable and further expands in specific cells or tissues with time, which can accelerate disease progression. DNA damage and base excision repair (BER) are involved in repeat instability and might contribute to the tissue selectivity of the process. In this review, we will discuss the mechanisms of trinucleotide repeat instability, focusing more specifically on the role of BER.
format Online
Article
Text
id pubmed-3924826
institution National Center for Biotechnology Information
language English
publishDate 2013
publisher MDPI
record_format MEDLINE/PubMed
spelling pubmed-39248262014-03-26 Abnormal Base Excision Repair at Trinucleotide Repeats Associated with Diseases: A Tissue-Selective Mechanism Goula, Agathi-Vasiliki Merienne, Karine Genes (Basel) Review More than fifteen genetic diseases, including Huntington’s disease, myotonic dystrophy 1, fragile X syndrome and Friedreich ataxia, are caused by the aberrant expansion of a trinucleotide repeat. The mutation is unstable and further expands in specific cells or tissues with time, which can accelerate disease progression. DNA damage and base excision repair (BER) are involved in repeat instability and might contribute to the tissue selectivity of the process. In this review, we will discuss the mechanisms of trinucleotide repeat instability, focusing more specifically on the role of BER. MDPI 2013-07-25 /pmc/articles/PMC3924826/ /pubmed/24705210 http://dx.doi.org/10.3390/genes4030375 Text en © 2013 by the authors; licensee MDPI, Basel, Switzerland. http://creativecommons.org/licenses/by/3.0/ This article is an open access article distributed under the terms and conditions of the Creative Commons Attribution license (http://creativecommons.org/licenses/by/3.0/).
spellingShingle Review
Goula, Agathi-Vasiliki
Merienne, Karine
Abnormal Base Excision Repair at Trinucleotide Repeats Associated with Diseases: A Tissue-Selective Mechanism
title Abnormal Base Excision Repair at Trinucleotide Repeats Associated with Diseases: A Tissue-Selective Mechanism
title_full Abnormal Base Excision Repair at Trinucleotide Repeats Associated with Diseases: A Tissue-Selective Mechanism
title_fullStr Abnormal Base Excision Repair at Trinucleotide Repeats Associated with Diseases: A Tissue-Selective Mechanism
title_full_unstemmed Abnormal Base Excision Repair at Trinucleotide Repeats Associated with Diseases: A Tissue-Selective Mechanism
title_short Abnormal Base Excision Repair at Trinucleotide Repeats Associated with Diseases: A Tissue-Selective Mechanism
title_sort abnormal base excision repair at trinucleotide repeats associated with diseases: a tissue-selective mechanism
topic Review
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3924826/
https://www.ncbi.nlm.nih.gov/pubmed/24705210
http://dx.doi.org/10.3390/genes4030375
work_keys_str_mv AT goulaagathivasiliki abnormalbaseexcisionrepairattrinucleotiderepeatsassociatedwithdiseasesatissueselectivemechanism
AT meriennekarine abnormalbaseexcisionrepairattrinucleotiderepeatsassociatedwithdiseasesatissueselectivemechanism

Ejemplares similares