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Genetic association between alpha-2 macroglobulin and Japanese sporadic Alzheimer's disease
N Shibata1, T Ohnuma, T Takahashi
1Department of Psychiatry, Juntendo University School of Medicine, Tokyo, Japan.
Abstract:
Alpha-2 macroglobulin (encoded by the gene A2M) is a serum pan-protease inhibitor that may be related with the pathogenesis of Alzheimer's disease (AD) because of its ability to mediate amyloid beta degradation. Recently, several groups have reported that the five-nucleotides deletion in A2M gene at the 5' splice site of exon 18 might increase risk for AD. In the present study, therefore, this mutation was studied in 69 healthy controls and 55 sporadic AD cases by polymerase chain reaction- restriction fragment length polymorphism method. The allelic frequencies with the deletion (A2M-2) are 9.4 and 6.4% in the control and AD groups, respectively. There is no significant difference in the A2M-2 frequencies between the controls and sporadic AD cases. This is the first report to study the frequencies of A2M-2 in Japanese AD cases, suggesting its no genetic association with sporadic AD.
Insights
This study investigated the A2M-2 genetic variation in Alzheimer's disease (AD) patients. The alpha-2 macroglobulin (A2M) gene deletion showed no significant association with sporadic AD in the Japanese population.
Area of Science:
- Neuroscience
- Genetics
Background:
- Alpha-2 macroglobulin (A2M) is a protease inhibitor potentially involved in Alzheimer's disease (AD) pathogenesis due to its role in amyloid-beta degradation.
- A specific five-nucleotide deletion in the A2M gene (A2M-2) has been hypothesized to increase AD risk.
Purpose of the Study:
- To investigate the association between the A2M-2 deletion and sporadic Alzheimer's disease in a Japanese cohort.
- To determine the allelic frequencies of the A2M-2 deletion in healthy controls and AD patients.
Main Methods:
- Polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) was used to analyze the A2M gene.
- Genotyping was performed on 69 healthy controls and 55 sporadic AD cases.
Main Results:
- The allelic frequencies of the A2M-2 deletion were 9.4% in controls and 6.4% in AD patients.
- No statistically significant difference in A2M-2 frequencies was observed between the control and sporadic AD groups.
Conclusions:
- The A2M-2 deletion is not significantly associated with sporadic Alzheimer's disease in the studied Japanese population.
- This finding suggests that the A2M-2 mutation does not play a major role in the genetic risk for sporadic AD in this demographic.