دورية أكاديمية
A novel PSEN2 p.Ser175Phe variant in a family with Alzheimer's disease.
العنوان: | A novel PSEN2 p.Ser175Phe variant in a family with Alzheimer's disease. |
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المؤلفون: | Guven G; Department of Genetics, Aziz Sancar Institute of Experimental Medicine, Istanbul University, Istanbul, Turkey. zgamzee@gmail.com., Samanci B; Behavioral Neurology and Movement Disorders Unit, Department of Neurology, Istanbul Faculty of Medicine, Istanbul University, Istanbul, Turkey., Gulec C; Department of Medical Genetics, Istanbul Faculty of Medicine, Istanbul University, Istanbul, Turkey., Hanagasi H; Behavioral Neurology and Movement Disorders Unit, Department of Neurology, Istanbul Faculty of Medicine, Istanbul University, Istanbul, Turkey., Gurvit H; Behavioral Neurology and Movement Disorders Unit, Department of Neurology, Istanbul Faculty of Medicine, Istanbul University, Istanbul, Turkey., Gokalp EE; Department of Medical Genetics, Faculty of Medicine, Eskisehir Osmangazi University, Eskisehir, Turkey., Tepgec F; Department of Medical Genetics, Istanbul Faculty of Medicine, Istanbul University, Istanbul, Turkey., Guler S; Neurology Clinic, Mehmet Akif Inan Training and Research Hospital, University of Health Sciences, Sanliurfa, Turkey., Uyguner O; Department of Medical Genetics, Istanbul Faculty of Medicine, Istanbul University, Istanbul, Turkey., Bilgic B; Behavioral Neurology and Movement Disorders Unit, Department of Neurology, Istanbul Faculty of Medicine, Istanbul University, Istanbul, Turkey. |
المصدر: | Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology [Neurol Sci] 2021 Jun; Vol. 42 (6), pp. 2497-2504. Date of Electronic Publication: 2021 Apr 15. |
نوع المنشور: | Journal Article |
اللغة: | English |
بيانات الدورية: | Publisher: Springer-Verlag Italia Country of Publication: Italy NLM ID: 100959175 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1590-3478 (Electronic) Linking ISSN: 15901874 NLM ISO Abbreviation: Neurol Sci Subsets: MEDLINE |
أسماء مطبوعة: | Original Publication: Milano, Italy : Springer-Verlag Italia, c2000- |
مواضيع طبية MeSH: | Alzheimer Disease*/genetics, Amyloid beta-Protein Precursor/genetics ; Humans ; Middle Aged ; Mutation/genetics ; Presenilin-1/genetics ; Presenilin-2/genetics |
مستخلص: | Alzheimer's disease (AD) can be either sporadic or familial, and familial forms of AD accounts for only 5% of the cases. So far, autosomal dominantly inherited mutations in "Presenilin 1" (PSEN1), "Presenilin 2" (PSEN2), and "Amyloid precursor protein" (APP) genes were associated with familial AD. Amid the others, pathogenic mutations in the PSEN2 gene are less common. In this study, we describe a novel heterozygous PSEN2 (c.524C>T, p.Ser175Phe) alteration identified in a 58-year-old Turkish patient from a family with multiple dementia cases. This variant was further present in the patient's clinically affected maternal cousin as well as in the asymptomatic mother and two maternal aunts who were carriers of the APOE ε2/ε3 genotype. The variant is located in the conserved residue of transmembrane domain III encoded by exon 6 of the major transcript. In silico protein structure analyses predicted that this variant might change the architecture of interaction between the two alpha helixes of PSEN2. We propose that p.Ser175Phe may have a pathogenic effect on protein function and may play a significant role in the molecular pathways leading to Alzheimer's disease in this family. |
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فهرسة مساهمة: | Keywords: Alzheimer’s disease; PSEN2; S175F; novel |
المشرفين على المادة: | 0 (Amyloid beta-Protein Precursor) 0 (PSEN2 protein, human) 0 (Presenilin-1) 0 (Presenilin-2) |
تواريخ الأحداث: | Date Created: 20210415 Date Completed: 20210531 Latest Revision: 20210531 |
رمز التحديث: | 20221213 |
DOI: | 10.1007/s10072-021-05243-w |
PMID: | 33855622 |
قاعدة البيانات: | MEDLINE |
تدمد: | 1590-3478 |
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DOI: | 10.1007/s10072-021-05243-w |