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Nicastrin gene in familial and sporadic Alzheimer's disease
- Publication Year :
- 2003
-
Abstract
- Nicastrin is a protein recently discovered associated to presenilins and involved in the production of amyloid beta peptide that accumulates in Alzheimer's disease (AD) brain. In this study the nicastrin gene was examined for unknown mutations and polymorphisms in 104 patients with familial AD (52 early-onset and 52 late-onset), 174 sporadic AD and 191 healthy neurological controls of Italian origin. The scanning of the nicastrin gene identified a missense mutation (N417Y) in two patients with sporadic AD, in an early-onset familial AD and in a young control subject. Furthermore, we found two silent mutations and four intronic polymorphisms, three of them co-segregating in a single haplotype. We found some differences in the distribution of genotype alterations in the AD population compared to the controls. However, our data together with other evidence did not support the pathological role of missense mutation N417Y.
- Subjects :
- Male
Silent mutation
Genotype
Apolipoprotein E4
Population
Mutation, Missense
Nicastrin
Single-nucleotide polymorphism
Biology
Presenilin
Apolipoproteins E
Alzheimer Disease
medicine
Humans
Missense mutation
RNA, Messenger
Age of Onset
education
Polymorphism, Single-Stranded Conformational
Aged
Aged, 80 and over
Genetics
education.field_of_study
Membrane Glycoproteins
Reverse Transcriptase Polymerase Chain Reaction
General Neuroscience
Haplotype
medicine.disease
Case-Control Studies
biology.protein
Tyrosine
Female
Amyloid Precursor Protein Secretases
Asparagine
Alzheimer's disease
Subjects
Details
- Language :
- English
- Database :
- OpenAIRE
- Accession number :
- edsair.doi.dedup.....899140a4372d5f01f06d0383b3141f0e