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Published on: June 1, 2014
No evidence of association between the alpha-2 macroglobulin gene and Parkinson's disease in a case-control sample
Giuseppe Nicoletti1, Grazia Annesi, Carmine Tomaino
1Institute of Experimental Medicine and Biotechnology, National Research Council, Mangone (CS), Italy.
Abstract:
Alpha-2 macroglobulin (A2M) is a component of Lewy bodies, a hallmark of Parkinson's disease (PD). In 159 PD patients and 190 normal controls, we studied two A2M polymorphisms by the polymerase chain reaction-restriction fragment length polymorphism method: a five-nucleotide deletion at the 5' splice site of exon 18; and a valine to isoleucine exchange in amino acid position 1000 near the thiolester active site. No significant differences in allelic and genotypic distribution were found between cases and controls or between early and late-onset PD patients. The present data suggest that these polymorphisms do not represent a risk factor for PD and do not modulate the age at onset of PD.
Insights
Alpha-2 macroglobulin (A2M) gene variations were investigated in Parkinson's disease (PD). These specific A2M polymorphisms were not found to be a risk factor for PD or influence disease onset age.
Area of Science:
- Neuroscience
- Genetics
- Biochemistry
Background:
- Alpha-2 macroglobulin (A2M) is identified as a component of Lewy bodies.
- Lewy bodies are a significant pathological hallmark of Parkinson's disease (PD).
Purpose of the Study:
- To investigate the association between two specific A2M polymorphisms and Parkinson's disease.
- To determine if these A2M polymorphisms influence the age of PD onset.
Main Methods:
- Polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) was used.
- Two A2M polymorphisms were analyzed: a 5' splice site deletion in exon 18 and an amino acid substitution (V1000I).
- Allelic and genotypic distributions were compared between 159 PD patients and 190 healthy controls.
Main Results:
- No significant differences in the allelic or genotypic distribution of the studied A2M polymorphisms were observed between Parkinson's disease patients and controls.
- The A2M polymorphisms did not correlate with early-onset versus late-onset PD.
Conclusions:
- The investigated A2M polymorphisms do not appear to be a genetic risk factor for Parkinson's disease.
- These specific A2M variations do not seem to modulate the age of onset in Parkinson's disease patients.
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