Mutational Spectrum Analysis of Neurodegenerative Diseases and Its Pathogenic Implication.
Mutational Spectrum Analysis of Neurodegenerative Diseases and Its Pathogenic Implication.
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神经退行性疾病的突变谱分析及其致病意义
DOI：
10.3390/ijms161024295
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发表时间：
2015-10-14
影响因子：
5.6
通讯作者：
Ji HF
中科院分区：
文献类型：
--
作者：
Shen L;Ji HF
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.
