Identifying families with likely genetic protective factors against Alzheimer disease

Article Abstract:

Alzheimer's disease (AD) dementia has been assessed in 6,660 first-degree relatives of 1,049 probands 60-102 years of age and without dementia. Assessment was accomplished through family informants. Persons who have lived beyond 90 years of age without dementia are hypothesized to have greater concentrations of genetic protective factors against AD vs younger undemented people. It appears that genetic factors that contribute to reduced liability of AD over a lifetime may be more concentrated among nondemented probands aged 90 or more years and their families. Probands, those from whom a lineage is traced, were grouped by age and the cumulative survival from AD and the 10-year-age-interval hazard rates of AD were calculated in first-degree relatives. Cumulative survival from AD was significantly greater in the relatives of the oldest proband group, aged 10-102 years. Reduction in the rate of illness in the same group was more or less constant in later life.

Health aspects, Aged, Elderly, Usage, Measurement, Risk factors, Dementia, Disease susceptibility, Quantitative genetics

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Function and dysfunction of the presenilins

Article Abstract:

Alzheimer's disease (AD) is the most common kind of dementia and occurs in mid to late life. A certain type of highly fibrillogenic peptides are present in extracellular deposits in senile plaques and intraneuronal accumulations of hyperphosphorylated tau in neruofibrillary tangles in the disease. Presenilin 1 and presenilin 2 are involved in the autosomal dominant early-onset form of the disease.Genetics of presenilin-linked early-onset AD are discussed with presenilin strucutre and metabolism covered.

Caenorhabditis elegans, Genetic disorders

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Promoter mutations that increase amyloid precursor-protein expression are associated with Alzheimer disease

Article Abstract:

The proximal promoter and two functional distal regions of amyloid precursor (APP) in two independent Alzheimer disease (AD) series with onset ages less than and equal to 70 years is systematically sequenced and identified eight novel sequence variants. The study provides evidence that APP-promoter mutations that significantly increase APP expression levels are associated with AD.

Amyloid beta-protein

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