Abstract
This study has identified a gene mutation in a Chinese family with Alzheimer’s disease (AD). Family members were screened by a set of medical examinations and neuropsychological tests. Their DNA was extracted from blood cells and sequenced for gene mutation in the amyloid precursor protein (APP), the presenilin 1 (PS1) and the presenilin 2 (PS2) genes. Genetic analysis showed that the AD patients in the family harbored a T to G missense mutation at the position 314 in exon 4 of the PS1 gene, resulting in a change of F105C in amino acid sequence. Clinical manifestation of these patients included memory loss, counting difficulty, personality change, disorientation, dyscalculia, agnosia, aphasia, and apraxia, which was similar to that of the familial AD (FAD) patients harboring other PS1 mutations. We intend to add a novel mutation F105C of the PS1 gene to the pool of FAD mutations. With the current available genetic data, mutations of the PS1 gene account for the majority of gene mutations in Chinese FAD.
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Acknowledgments
This work was supported by the National Natural Science Foundation of China (Grant No. 81270423 and 30973144), the Natural Science Foundation Project of CQCSTC (Grant No. CSTC2010BA5004), China Postdoctoral Science Foundation (Grant No. 2012M521861), and the Chongqing Postdoctoral Science Foundation (Grant No. Xm201342).
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The study was approved by the Institutional Review Board of Daping Hospital. Written consents for genetic screening were obtained from all participants or their legal representatives.
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Bo Deng and Yan Lian have contributed equally to this work.
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Deng, B., Lian, Y., Wang, X. et al. Identification of a Novel Mutation in the Presenilin 1 Gene in a Chinese Alzheimer’s Disease Family. Neurotox Res 26, 211–215 (2014). https://doi.org/10.1007/s12640-014-9462-3
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DOI: https://doi.org/10.1007/s12640-014-9462-3