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

Genes

Agathi-Vasiliki Goula¹ 

[1] Programme of Translational Medicine and Neurogenetics, Institute of Genetics and Molecular and Cellular Biology (IGBMC), UMR 7104-CNRS/INSERM/Uds, 1 rue Laurent Fries, 67404 Illkirch, France; E-Mail

关键词: trinucleotide repeat diseases;    instability;    BER;   

DOI  :  10.3390/genes4030375

来源: mdpi

【 摘 要 】

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.

【 授权许可】

CC BY   
© 2013 by the authors; licensee MDPI, Basel, Switzerland.