Alzheimer's disease (AD) is a leading cause of dementia in the elderly and is characterized by amyloid plaques, neurofibrillary tangles (NFTs) and neuronal dysfunction. Early onset AD (EOAD) is commonly caused by mutations in amyloid precursor protein (APP) or genes involved in the processing of APP including the presenilins (e.g. PSEN1 or PSEN2). In general, mouse models relevant to EOAD recap...

Alzheimer’s disease (AD) is one of the neurodegenerative disorders, characterized by gradual loss of memory, decline in other cognitive functions and decrease in functional capacity. Increasing age and a positive family history of dementia are the defi nite risk factors of the disease. Molecular analysis of families with early onset of AD (EOAD) has made it possible to identify dominantly actin...

The APOE ε4 allele was originally reported to contribute to risk of Alzheimer's disease (AD) in women, yet male and female AD patient-derived data are routinely pooled. Histopathological hallmarks of AD include neurofibrillary tangles centered on hyperphosphorylated Tau and plaques composed of the β-amyloid (Aβ) peptide that is derived by sequential secretase-mediated cleavage of the Amyloid Pr...

objective: survey of the influence of hla-drb1, -dqb1 alleles, genotypes and haplotypes on age at onset of type 1 diabetes (t1d) in an iranian population materials and methods: 105 iranian t1d patients of different ethnic group and 100 ethnically, age and sex matched individuals were selected from tehran's hospitals and hla-drb, -dqb typing was performed. according to the age at onset of t1d, ...

Counseling patients regarding the benefits, harms, and dilemmas of genetic testing is one of the greatest ethical challenges facing reproductive medicine today. With or without test results, clinicians grapple with how to communicate potential genetic risks as patients weigh their reproductive options. Here, we consider a case of a woman with a strong family history of early-onset Alzheimer's d...

background: maturity-onset diabetes of the young (mody) is a heterogeneous entity of monogenic disorders characterized by autosomal dominant inheritance. eleven genes were related, including hnf4α, gck, hnf1α, ipf1, and hnf-1β, and various mutations are being reported. methods: to help the overall understanding of mody-related pathologic mutations, we studied a large mody family found in 2012, ...

BACKGROUND The objective of this study was to analyze factors influencing the risk and timing of Alzheimer's disease (AD) in central Norway. The APOE epsilon4 allele is the only consistently identified risk factor for late onset Alzheimer's disease (LOAD). We have described the allele frequencies of the apolipoprotein E gene (APOE) in a large population of patients with AD compared to the frequ...

OBJECTIVE To determine the beta-amyloid precursor protein (betaAPP) isoforms ratio as a risk factor for Alzheimer's Disease and to assess its relationship with demographic and genetic variables of the disease. METHODS Blood samples from 26 patients fulfilling NINCDS-ADRDA diagnostic criteria for AD and 46 healthy control subjects were collected for Western blotting for betaAPP. A ratio of bet...