Research Article

Autism-associated SHANK3 haploinsufficiency causes Ih channelopathy in human neurons

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Science  06 May 2016:
Vol. 352, Issue 6286, aaf2669
DOI: 10.1126/science.aaf2669

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  • Autism, copy number variations and enhanced ion traffic
    • Qiuyun Liu, Professor, Guangdong Provincial Key Laboratory of Improved Variety Reproduction in Aquatic Economic Animals, Sun Yat-sen University
    • Other Contributors:
      • Yuchuan Wang, Postdoctoral, School of Chemistry and Chemical Engineering, Sun Yat-sen University, Guangzhou 510275, China
      • Li Cai, Student, School of Life Sciences, Sun Yat-sen University, Guangzhou 510275, China
      • Shihong Lin, Student, School of Life Sciences, Sun Yat-sen University, Guangzhou 510275, China

    Copy number variations sometimes are associated with longer proteins or expression of novel open reading frames, which harbor numerous amino acid residues capable of ionic bonding and secondary chemical bonding. This results in the enhancement of ion transport and ion traffic. Women have lower cancer risks than men, but higher risks of dementia (1-2). Cancer is believed to be caused by the local buildup of HCl via the joint action of hydrogen bond donors and acceptors and basic amino acids (3-5). Hydrogen bond donors and acceptors rich in diet such as fish, can have positive impact on human health, as they can help dissolve insoluble and rigid salts that are implicated in age-related diseases such as Alzheimer’s disease (6-8). When proton traffic is enhanced by copy number variations, it may augment the mental ability of the affected individuals. When non-proton cation traffic and attendant formation of insoluble salts are augmented by copy number variations, some diseases and mental debility may appear. More dominant types of ions in trafficking are at least partly associated with the symptoms of autistic patients.

    Yuchuan Wang, 2,3 Li Cai, 1,3, Shihong Lin, 1 Qiuyun Liu 1,*
    1. Guangdong Provincial Key Laboratory of Improved Variety Reproduction in Aquatic Economic Animals, Biomedical Center, State Key Laboratory of Biocontrol, Department of Biochemistry, School of Life Sciences, Sun Yat-sen University, Guangzhou 510275, China.
    2. School of Chemistry a...

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    Competing Interests: None declared.

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