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

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...

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Main Authors: Agathi-Vasiliki Goula, Karine Merienne
Format: Article
Language:English
Published: MDPI AG 2013-07-01
Series:Genes
Subjects:
trinucleotide repeat diseases
instability
BER
Online Access:http://www.mdpi.com/2073-4425/4/3/375
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spelling doaj-228d699c2e6e470bb7790405ef09c3142020-11-24T23:39:57ZengMDPI AGGenes2073-44252013-07-014337538710.3390/genes4030375Abnormal Base Excision Repair at Trinucleotide Repeats Associated with Diseases: A Tissue-Selective MechanismAgathi-Vasiliki GoulaKarine MerienneMore 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.http://www.mdpi.com/2073-4425/4/3/375trinucleotide repeat diseasesinstabilityBER
collection DOAJ
language English
format Article
sources DOAJ
author Agathi-Vasiliki Goula
Karine Merienne
spellingShingle Agathi-Vasiliki Goula
Karine Merienne
Abnormal Base Excision Repair at Trinucleotide Repeats Associated with Diseases: A Tissue-Selective Mechanism
Genes
trinucleotide repeat diseases
instability
BER
author_facet Agathi-Vasiliki Goula
Karine Merienne
author_sort Agathi-Vasiliki Goula
title 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_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_sort abnormal base excision repair at trinucleotide repeats associated with diseases: a tissue-selective mechanism
publisher MDPI AG
series Genes
issn 2073-4425
publishDate 2013-07-01
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.
topic trinucleotide repeat diseases
instability
BER
url http://www.mdpi.com/2073-4425/4/3/375
work_keys_str_mv AT agathivasilikigoula abnormalbaseexcisionrepairattrinucleotiderepeatsassociatedwithdiseasesatissueselectivemechanism
AT karinemerienne abnormalbaseexcisionrepairattrinucleotiderepeatsassociatedwithdiseasesatissueselectivemechanism
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