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Int. J. Mol. Sci. 2015, 16(10), 24295-24301; doi:10.3390/ijms161024295

Mutational Spectrum Analysis of Neurodegenerative Diseases and Its Pathogenic Implication

Shandong Provincial Research Center for Bioinformatic Engineering and Technique, Shandong University of Technology, Zibo 255049, China
Author to whom correspondence should be addressed.
Academic Editor: Kurt A. Jellinger
Received: 15 August 2015 / Revised: 11 September 2015 / Accepted: 18 September 2015 / Published: 14 October 2015
(This article belongs to the Special Issue Mechanisms of Neurodegeneration)
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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. View Full-Text
Keywords: neurodegenerative diseases; conformation change; mutation; distribution pattern; pathogenesis neurodegenerative diseases; conformation change; mutation; distribution pattern; pathogenesis

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This is an open access article distributed under the Creative Commons Attribution License which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited. (CC BY 4.0).

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Shen, L.; Ji, H.-F. Mutational Spectrum Analysis of Neurodegenerative Diseases and Its Pathogenic Implication. Int. J. Mol. Sci. 2015, 16, 24295-24301.

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