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Role of TOMM40 rs10524523 Polymorphism in Onset of Alzheimer's Disease Caused by the PSEN1 M146L Mutation
- Source :
- Journal of Alzheimer's Disease. 37:285-289
- Publication Year :
- 2013
- Publisher :
- IOS Press, 2013.
-
Abstract
- We investigated the association between TOMM40 rs10524523, age of onset, and memory performance in patients with the PSEN1 M146L mutation in a large familial Alzheimer's disease Calabrian kindred, with a wide variability of onset not attributable to APOE. APOE33/TOMM40VL/VL patients showed a tendency for an earlier age at onset compared to those with APOE33/TOMM40VL/S and APOE33/TOMM40S/S. Moreover, TOMM40VL/VL patients had better memory performance, when compared to TOMM40S/S but not to TOMM40VL/S patients, so there is not a dose-dependent effect. Our results suggest that, in the presence of the PSEN1 mutation, the slight difference in age of onset together with memory performance could be influenced by TOMM40 genotypes.
- Subjects :
- Adult
Male
Apolipoprotein E
medicine.medical_specialty
Pathology
Psen1 mutation
Genotype
Disease
Neuropsychological Tests
Memory performance
Gastroenterology
Methionine
Alzheimer Disease
Leucine
Internal medicine
Mitochondrial Precursor Protein Import Complex Proteins
Presenilin-1
medicine
PSEN1
Humans
Genetic Predisposition to Disease
In patient
Age of Onset
Memory Disorders
Polymorphism, Genetic
business.industry
General Neuroscience
Membrane Transport Proteins
General Medicine
Middle Aged
Psychiatry and Mental health
Clinical Psychology
Mutation
Female
Geriatrics and Gerontology
Age of onset
business
Subjects
Details
- ISSN :
- 18758908 and 13872877
- Volume :
- 37
- Database :
- OpenAIRE
- Journal :
- Journal of Alzheimer's Disease
- Accession number :
- edsair.doi.dedup.....372a04c08cb61f08c851f403d637964e