A patient with early-onset Alzheimer's disease with a novel PSEN1 p.Leu424Pro mutation

Guven G., Erginel-Unaltuna N., Samanci B., Gulec C., Hanagasi H. A., Bilgic B.

NEUROBIOLOGY OF AGING, cilt.84, 2019 (SCI-Expanded) identifier identifier identifier

  • Yayın Türü: Makale / Tam Makale
  • Cilt numarası: 84
  • Basım Tarihi: 2019
  • Doi Numarası: 10.1016/j.neurobiolaging.2019.05.014
  • Dergi Adı: NEUROBIOLOGY OF AGING
  • Derginin Tarandığı İndeksler: Science Citation Index Expanded (SCI-EXPANDED), Scopus
  • Anahtar Kelimeler: Early-onset Alzheimer's disease, PSEN1, Novel, L424P, Mutation, PRESENILIN-1 GENE, DIAGNOSIS, DEMENTIA
  • İstanbul Üniversitesi Adresli: Evet

Özet

"Presenilin 1" (PSEN1) gene mutations are the major known genetic cause of early-onset Alzheimer's disease. Herein, we report a novel heterozygous PSEN1 mutation (p.Leu424Pro) in a Turkish patient presenting with deterioration of short-term memory and visuospatial skills starting at the age of 47 years. This novel mutation is located in the conserved residue of transmembrane domain 8 coded by exon 12. At the protein level, this mutation caused a disruption in the alpha helix structure of PSEN1. The structural and possible functional consequences of the mutation suggest that it has probably a pathogenic effect, which in turns had a potential role in the development of Alzheimer's disease in our patient. (C) 2019 Elsevier Inc. All rights reserved.