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The nonsynonymous Thr105Ile polymorphism of the histamine N-methyltransferase is associated to the risk of developing essential tremor
- Source :
- Neuromolecular medicine. 10(4)
- Publication Year :
- 2007
-
Abstract
- Objective We analyzed in patients with essential tremor (ET) the Thr105Ile polymorphism of the Histamine N-methyltransferase (HNMT) enzyme that is associated to Parkinson’s disease (PD) risk. Methods Leukocytary DNA from 204 ET patients and a control group of 295 unrelated healthy individuals was studied for the nonsynonymous HNMT Thr105Ile polymorphism by using amplification-restriction analyses. Results Patients with ET showed a higher frequency of homozygous HNMT 105Thr genotypes leading to high metabolic activity (p < 0.015) with a statistically significant gene-dose effect, as compared to healthy subjects. These findings were independent of gender, and of tremor localization, but the association of the HNMT polymorphism is more prominent among patients with late-onset ET (p < 0.007). Conclusion These results, combined with previous findings indicating alterations in the frequency for the HNMT Thr105Ile polymorphism in patients with PD, suggest that alterations of histamine homeostasis in the SNC are associated with the risk of movement disorders.
- Subjects :
- Nonsynonymous substitution
Adult
Male
Threonine
medicine.medical_specialty
Histamine N-Methyltransferase
Movement disorders
Neurology
Adolescent
Essential Tremor
DNA Mutational Analysis
Disease
Biology
Pharmacology
Cellular and Molecular Neuroscience
chemistry.chemical_compound
Young Adult
Internal medicine
Genotype
medicine
Humans
Genetic Predisposition to Disease
Genetic Testing
Isoleucine
Child
Aged
Aged, 80 and over
Brain Chemistry
Histamine N-methyltransferase
Polymorphism, Genetic
Essential tremor
Middle Aged
medicine.disease
Endocrinology
chemistry
Amino Acid Substitution
Child, Preschool
Molecular Medicine
Female
medicine.symptom
Histamine
Subjects
Details
- ISSN :
- 15591174
- Volume :
- 10
- Issue :
- 4
- Database :
- OpenAIRE
- Journal :
- Neuromolecular medicine
- Accession number :
- edsair.doi.dedup.....81f6f2654154ce33ab5088a630f93fb5