Pathogenic PSEN1 Glu184Gly mutation in a family from Thailand with probable autosomal dominant early onset Alzheimer’s disease
© 2020 by the authors. A pathogenic mutation in PSEN1 p.Glu184Gly was discovered in a Thai family with early onset Alzheimer’s disease (EOAD) as the first case in Asia. Proband patient presented memory impairment and anxiety at the age of 41 years. Family history was positive, since several family m...
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th-mahidol.535892020-03-26T11:31:56Z Pathogenic PSEN1 Glu184Gly mutation in a family from Thailand with probable autosomal dominant early onset Alzheimer’s disease Vorapun Senanarong Seong Soo A. An Vo van Giau Chanin Limwongse Eva Bagyinszky Sang Yun Kim Seoul National University Bundang Hospital Gachon University Faculty of Medicine, Siriraj Hospital, Mahidol University Biochemistry, Genetics and Molecular Biology © 2020 by the authors. A pathogenic mutation in PSEN1 p.Glu184Gly was discovered in a Thai family with early onset Alzheimer’s disease (EOAD) as the first case in Asia. Proband patient presented memory impairment and anxiety at the age of 41 years. Family history was positive, since several family members were also diagnosed with dementia (father and grandfather). MRI in the patient revealed global cortical atrophy without specific lesions or lacuna infarctions. Extensive genetic profiling for 50 neurodegenerative disease related genes was performed by next generation sequencing (NGS) on the patient. PSEN1 Glu184Gly was previously reported in French families with frontal variant Alzheimer’s disease (AD). Interestingly, this mutation is located near the splicing site and could possibly result in abnormal cleavage of PSEN1 transcript. Furthermore, 3D models from protein structural predictions revealed significant structural changes, since glycine may result in increased flexibility of TM-III helix. Inter/intra-helical interactions could also be altered. In the future, functional studies should be performed to verify the probable role PSEN1 Glu184Gly in amyloid beta processing and pathogenicity. 2020-03-26T04:31:56Z 2020-03-26T04:31:56Z 2020-02-01 Article Diagnostics. Vol.10, No.3 (2020) 10.3390/diagnostics10030135 20754418 2-s2.0-85081384075 https://repository.li.mahidol.ac.th/handle/123456789/53589 Mahidol University SCOPUS https://www.scopus.com/inward/record.uri?partnerID=HzOxMe3b&scp=85081384075&origin=inward |
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Biochemistry, Genetics and Molecular Biology Vorapun Senanarong Seong Soo A. An Vo van Giau Chanin Limwongse Eva Bagyinszky Sang Yun Kim Pathogenic PSEN1 Glu184Gly mutation in a family from Thailand with probable autosomal dominant early onset Alzheimer’s disease |
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© 2020 by the authors. A pathogenic mutation in PSEN1 p.Glu184Gly was discovered in a Thai family with early onset Alzheimer’s disease (EOAD) as the first case in Asia. Proband patient presented memory impairment and anxiety at the age of 41 years. Family history was positive, since several family members were also diagnosed with dementia (father and grandfather). MRI in the patient revealed global cortical atrophy without specific lesions or lacuna infarctions. Extensive genetic profiling for 50 neurodegenerative disease related genes was performed by next generation sequencing (NGS) on the patient. PSEN1 Glu184Gly was previously reported in French families with frontal variant Alzheimer’s disease (AD). Interestingly, this mutation is located near the splicing site and could possibly result in abnormal cleavage of PSEN1 transcript. Furthermore, 3D models from protein structural predictions revealed significant structural changes, since glycine may result in increased flexibility of TM-III helix. Inter/intra-helical interactions could also be altered. In the future, functional studies should be performed to verify the probable role PSEN1 Glu184Gly in amyloid beta processing and pathogenicity. |
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Seoul National University Bundang Hospital |
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Seoul National University Bundang Hospital Vorapun Senanarong Seong Soo A. An Vo van Giau Chanin Limwongse Eva Bagyinszky Sang Yun Kim |
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Article |
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Vorapun Senanarong Seong Soo A. An Vo van Giau Chanin Limwongse Eva Bagyinszky Sang Yun Kim |
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Vorapun Senanarong |
title |
Pathogenic PSEN1 Glu184Gly mutation in a family from Thailand with probable autosomal dominant early onset Alzheimer’s disease |
title_short |
Pathogenic PSEN1 Glu184Gly mutation in a family from Thailand with probable autosomal dominant early onset Alzheimer’s disease |
title_full |
Pathogenic PSEN1 Glu184Gly mutation in a family from Thailand with probable autosomal dominant early onset Alzheimer’s disease |
title_fullStr |
Pathogenic PSEN1 Glu184Gly mutation in a family from Thailand with probable autosomal dominant early onset Alzheimer’s disease |
title_full_unstemmed |
Pathogenic PSEN1 Glu184Gly mutation in a family from Thailand with probable autosomal dominant early onset Alzheimer’s disease |
title_sort |
pathogenic psen1 glu184gly mutation in a family from thailand with probable autosomal dominant early onset alzheimer’s disease |
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2020 |
url |
https://repository.li.mahidol.ac.th/handle/123456789/53589 |
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1763489229092945920 |