Segregation of a missense mutation in the amyloid precursor protein gene with familial Alzheimer's disease

Article Abstract:

Considerable research evidence has been amassed that implicates human chromosome 21 in Alzheimer's disease (AD), a progressive neurological disorder leading to complete cognitive loss, but the aberrant gene has yet to be identified. Although the gene that encodes the amyloid precursor protein (APP), a protein from which beta-amyloid protein (an abnormal substance found in the brains of people with AD) is made, has been suspected, evidence that recombination events take place between the APP gene and the probable AD locus argues against this. A series of experiments is reported in which APP DNA from a family member with early-onset AD was analyzed along its entire length to determine the AD locus. A point mutation (a mutation in a single base) was found in exon 17, a region chosen first for sequencing because it encodes part of the beta-amyloid protein and is known to contain a mutation in another hereditary cerebral disease. The same mutation was found in other members of the same kindred, and in another unrelated family with early-onset disease. No such mutation was found in 100 normal individuals, or in families with late-onset disease. If these results are valid, the APP gene in other families should show a similar mutation. (Consumer Summary produced by Reliance Medical Information, Inc.)

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Early-onset Alzheimer's disease caused by mutations at codon 717 of the beta-amyloid precursor protein gene

Article Abstract:

Amyloid protein is present in abnormal conditions in the brains of individuals with Alzheimer's disease. In some families, Alzheimer's disease occurs more often than would occur by chance (familial inheritance). A genetic mutation at a certain site in the gene which codes for the precursor molecule for the beta-amyloid protein was identified in one family with familial Alzheimer's disease. This same mutation has been seen in an additional five out of one hundred families examined with familial Alzheimer's disease. The mutation was also identified in another family, but although the mutation was at the same site on the chromosomes as the other mutations, it caused a different genetic change. No differences in the clinical status of the two groups of patients have been seen. This finding contributes to the understanding of the defects that result in the abnormal processing and deposition of the amyloid protein in the brains of individuals with Alzheimer's disease. (Consumer Summary produced by Reliance Medical Information, Inc.)

Research, Genetic disorders

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Alzheimer's - a correction

Article Abstract:

Mutations to the amino acid valine is the likely cause of Alzheimer's disease. G. Lucotte and others erred in claiming that a mutation in the beta-amyloid precursor protein (APP) caused the disease. Genetic analysis of six families with Alzheimer's indicates that a valine to isoleucine mutation APP's exon 17 gene is definitely linked to the disease. The phenotype of the exon 17 mutation has yet to be fully determined.

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