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Screening for the APP codon 670/671 mutations in Alzheimer's disease
H Houlden1, F Crawford, M Rossor
1Department of Biochemistry, St. Mary's Hospital Medical School, Paddington, London, UK.
Neuroscience Letters
|May 14, 1993
Summary
A specific amyloid precursor protein mutation causes early onset familial Alzheimer's disease. However, screening of numerous Alzheimer's disease patients and controls did not detect this mutation.
Area of Science:
- Neuroscience
- Genetics
- Molecular Biology
Background:
- Familial Alzheimer's disease (FAD) is a genetically influenced neurodegenerative disorder.
- Early onset Alzheimer's disease (EOAD) can be linked to specific genetic mutations.
- Amyloid precursor protein (APP) mutations are implicated in Alzheimer's pathogenesis.
Purpose of the Study:
- To investigate the prevalence of a newly identified APP mutation (codons 670-671, exon 16) in various Alzheimer's disease cohorts.
- To determine if this specific APP mutation is a common cause of early onset familial Alzheimer's disease.
Main Methods:
- Restriction enzyme digestion was employed for mutation screening.
- Genetic analysis was performed on DNA samples from affected and control individuals.
Main Results:
- The study screened 43 families with early onset Alzheimer's disease.
- Screening also included 31 families with late onset Alzheimer's disease, 30 sporadic Alzheimer's disease cases, and 30 normal individuals.
- The identified APP mutation was not detected in any of the screened groups.
Conclusions:
- The specific APP mutation at codons 670-671, while identified as a cause of EOAD, was not found in the studied patient cohorts.
- This suggests that other genetic or environmental factors likely contribute to the majority of early onset and late onset Alzheimer's disease cases.
- Further research is needed to understand the full spectrum of genetic contributors to Alzheimer's disease.