The Nonsynonymous Thr105Ile Polymorphism of the Histamine N-Methyltransferase is Associated to the Risk of Developing Essential Tremor

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• 作者：Maria C. Ledesma (1)
  Elena García-Martín (2)
  Hortensia Alonso-Navarro (3)
  Carmen Martínez (1)
  Félix Javier Jiménez-Jiménez (3)
  Julián Benito-León (4)
  Inmaculada Puertas (3)
  Lluisa Rubio (3)
  Tomás López-Alburquerque (5)
  José A. G. Agúndez (1)
  
• 关键词：Essential tremor ; Histamine ; HNMT ; Genetics ; Risk ; factors ; Polymorphisms
• 刊名：NeuroMolecular Medicine
• 出版年：2008
• 出版时间：December 2008
• 年：2008
• 卷：10
• 期：4
• 页码：356-361
• 全文大小：179KB
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• 作者单位：Maria C. Ledesma (1)
  Elena García-Martín (2)
  Hortensia Alonso-Navarro (3)
  Carmen Martínez (1)
  Félix Javier Jiménez-Jiménez (3)
  Julián Benito-León (4)
  Inmaculada Puertas (3)
  Lluisa Rubio (3)
  Tomás López-Alburquerque (5)
  José A. G. Agúndez (1)
  
  1. Department of Pharmacology & Psychiatry, Medical School, University of Extremadura, Badajoz, Spain
  2. Department of Biochemistry and Molecular Biology, School of Biological Sciences, University of Extremadura, Avda. de Elvas s/n, 06071, Badajoz, Spain
  3. Department of Medicine-Neurology, Príncipe de Asturias Hospital, University of Alcalá de Henares, Madrid, Spain
  4. Section of Neurology, Hospital de Móstoles, Móstoles (Madrid), Spain
  5. Service of Neurology, Hospital Universitario de Salamanca, Salamanca, Spain
  

文摘

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.