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Paraoxonase 1 (PON1) polymorphisms and risk for essential tremor
E García-Martín1, C Martínez, H Alonso-Navarro
1Biochemistry and Molecular Biology, School of Biological Sciences, University of Extremadura, Badajoz, Spain.
European Journal of Neurology
|January 7, 2010
Summary
Genetic variations in human serum paraoxonase 1 (PON1) were examined for their link to essential tremor (ET). The study found no significant association between PON1 genotypes and the risk or age of onset for ET.
Area of Science:
- Human Genetics
- Neurodegenerative Disorders
- Enzyme Polymorphisms
Background:
- Human serum paraoxonase 1 (PON1) is a polymorphic enzyme involved in metabolizing organophosphorus compounds.
- PON1 gene variations, specifically Leu55Met and Glu192Arg polymorphisms, are of interest due to their functional roles.
Purpose of the Study:
- To investigate the potential association between PON1 gene polymorphisms (Leu55Met and Glu192Arg) and the risk of developing essential tremor (ET).
- To determine if PON1 genotype influences the age of onset in patients with essential tremor.
Main Methods:
- A case-control study was conducted with 201 patients diagnosed with essential tremor (ET) and 220 healthy control subjects.
- Polymerase Chain Reaction-Restriction Fragment Length Polymorphism (PCR-RLFP) was employed to analyze the frequencies of PON1 genotypes and allelic variants.
Main Results:
- No statistically significant differences were observed in the frequencies of PON1 genotypes or the Leu55Met and Gln192Arg allelic variants between ET patients and healthy controls.
- The analyzed PON1 polymorphisms showed no correlation with the age at which essential tremor symptoms began.
Conclusions:
- The findings indicate that common PON1 polymorphisms (Leu55Met and Glu192Arg) are not associated with an increased risk of essential tremor.
- PON1 genotype does not appear to be a determining factor for the development or onset age of essential tremor.
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