The Glu318Gly mutation of the presenilin-1 gene does not necessarily cause Alzheimer's disease
Corresponding Author
Dr. Kari M. Mattila PhD
Karolinska Institute, Alzheimer's Disease Research Centre, KFC, Novum, Huddinge, Sweden
Department of Neurology, Medical School, university of Tampere, Tampere, Finland
Department of Neurology, Medical School, Building K, University of Tampere, PO Box 607, FIN-33101 Tampere, FinlandSearch for more papers by this authorCharlotte Forsell BSc
Karolinska Institute, Alzheimer's Disease Research Centre, KFC, Novum, Huddinge, Sweden
Search for more papers by this authorTuula Pirttila PhD
Department of Neurology, Kuopio University Hospital and University of Kuopio, Kuopio, Finland
Search for more papers by this authorJuha O. Rinne MD, PhD
Department of Neurology, University of Turku, Turku, Finland
Search for more papers by this authorTerho Lehtimaki MD, PhD
Department of Clinical Chemistry, Tampere University Hospital, Tampere, Finland
Search for more papers by this authorMatias Roytta MD
Department of Pathology, University of Turku, Turku, Finland
Search for more papers by this authorLena Lilius BSc
Karolinska Institute, Alzheimer's Disease Research Centre, KFC, Novum, Huddinge, Sweden
Search for more papers by this authorAnne Eerola MD
Department of Neurology, Tampere University Hospital, Tampere, Finland
Search for more papers by this authorPeter H. St George-Hyslop MD, FRCP(C)
Department of Centre for Research in Neurodegenerative Diseases, University of Toronto, Toronto, Ontario, Canada
Search for more papers by this authorHarry Frey MD, PhD
Department of Neurology, Medical School, university of Tampere, Tampere, Finland
Department of Neurology, Tampere University Hospital, Tampere, Finland
Search for more papers by this authorLars Lannfelt MD, PhD
Karolinska Institute, Alzheimer's Disease Research Centre, KFC, Novum, Huddinge, Sweden
Search for more papers by this authorCorresponding Author
Dr. Kari M. Mattila PhD
Karolinska Institute, Alzheimer's Disease Research Centre, KFC, Novum, Huddinge, Sweden
Department of Neurology, Medical School, university of Tampere, Tampere, Finland
Department of Neurology, Medical School, Building K, University of Tampere, PO Box 607, FIN-33101 Tampere, FinlandSearch for more papers by this authorCharlotte Forsell BSc
Karolinska Institute, Alzheimer's Disease Research Centre, KFC, Novum, Huddinge, Sweden
Search for more papers by this authorTuula Pirttila PhD
Department of Neurology, Kuopio University Hospital and University of Kuopio, Kuopio, Finland
Search for more papers by this authorJuha O. Rinne MD, PhD
Department of Neurology, University of Turku, Turku, Finland
Search for more papers by this authorTerho Lehtimaki MD, PhD
Department of Clinical Chemistry, Tampere University Hospital, Tampere, Finland
Search for more papers by this authorMatias Roytta MD
Department of Pathology, University of Turku, Turku, Finland
Search for more papers by this authorLena Lilius BSc
Karolinska Institute, Alzheimer's Disease Research Centre, KFC, Novum, Huddinge, Sweden
Search for more papers by this authorAnne Eerola MD
Department of Neurology, Tampere University Hospital, Tampere, Finland
Search for more papers by this authorPeter H. St George-Hyslop MD, FRCP(C)
Department of Centre for Research in Neurodegenerative Diseases, University of Toronto, Toronto, Ontario, Canada
Search for more papers by this authorHarry Frey MD, PhD
Department of Neurology, Medical School, university of Tampere, Tampere, Finland
Department of Neurology, Tampere University Hospital, Tampere, Finland
Search for more papers by this authorLars Lannfelt MD, PhD
Karolinska Institute, Alzheimer's Disease Research Centre, KFC, Novum, Huddinge, Sweden
Search for more papers by this authorAbstract
In early-onset familial Alzheimer's disease pathogenic mutations have been found in the amyloid precur sor protein (APP) gene and in the presenilin (PS)-1 and PS-2 genes. We screened for mutations in these genes in 20 patients with familial AD from the Finnish population. In addition, we sampled 41 sporadic AD patients and 59 controls to test for mutations identified in our familial AD cases. We detected an A-to-G transition in the PS-1 gene, resulting in a glutamic acid (G1u)-to- glycine (Gly) substitution at codon 318 in 2 familial and 2 sporadic AD patients. The Glu318Gly mutation has previously been reported to cause AD. We also found the Glu318Gly mutation in 4 healthy aged controls (range, 74–87 years). We thus conclude that the mutation is most likely a rare polymorphism not related to AD.
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