Mutational Spectrum Analysis of Neurodegenerative Diseases and Its Pathogenic Implication

International Journal of Molecular Sciences

Liang Shen²  Hong-Fang Ji¹ 

[1] Shandong Provincial Research Center for Bioinformatic Engineering and Technique, Shandong University of Technology, Zibo 255049, China; E-Mail

关键词: neurodegenerative diseases;    conformation change;    mutation;    distribution pattern;    pathogenesis;   

DOI  :  10.3390/ijms161024295

来源: mdpi

【 摘 要 】

One of the most conspicuous features of neurodegenerative diseases (NDs) is the occurrence of dramatic conformation change of individual proteins. We performed a mutational spectrum analysis of disease-causing missense mutations in seven types of NDs at nucleotide and amino acid levels, and compared the results with those of non-NDs. The main findings included: (i) The higher mutation ratio of G:C→T:A transversion to G:C→A:T transition was observed in NDs than in non-NDs, interpreting the excessive guanine-specific oxidative DNA damage in NDs; (ii) glycine and proline had highest mutability in NDs than in non-NDs, which favor the protein conformation change in NDs; (iii) surprisingly low mutation frequency of arginine was observed in NDs. These findings help to understand how mutations may cause NDs.

【 授权许可】

CC BY   
© 2015 by the authors; licensee MDPI, Basel, Switzerland.