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P1–340: Vitamin D receptor, Presenilin 1 and interleukin 1 alpha gene SNPs and late–onset Alzheimer's disease
Author(s) -
Dursun Erdinc,
Gezen-Ak Duygu,
Uysal Ömer,
Ertan Turan,
Bilgic Basar,
Gurvit Hakan,
Emre Murat,
Eker Engin,
Engin Funda,
Yilmazer Selma
Publication year - 2006
Publication title -
alzheimer's and dementia
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 6.713
H-Index - 118
eISSN - 1552-5279
pISSN - 1552-5260
DOI - 10.1016/j.jalz.2006.05.718
Subject(s) - single nucleotide polymorphism , calcitriol receptor , genotype , snp , medicine , cognitive decline , presenilin , polymorphism (computer science) , biology , genetics , alzheimer's disease , dementia , endocrinology , disease , gene
demented controls. Moreover, all the mutations (even the homoplasmic ones) found in hippocampus of AD patients were mainly present in mtDNA genes codifying for complex I and IV subunits of the respiratory chain, that are known to be more damaged in AD. Finally the T146C (previously described) and the A1871G (not known in literature) mutations have been found only in some AD patients but not in controls, suggesting a possible AD specificity.