No significance of the COMT val158met polymorphism in restless legs syndrome

被引：12

作者：

Mylius, V. ^{[1
]}

Moeller, J. C. ^{[1
]}

Strauch, K. ^{[2
]}

Oertel, W. H. ^{[1
]}

Stiasny-Kolster, K. ^{[1
]}

机构：

[1] Univ Marburg, Dept Neurol, D-35033 Marburg, Germany

[2] Univ Marburg, Inst Med Biometry & Epidemiol, D-35032 Marburg, Germany

来源：

NEUROSCIENCE LETTERS | 2010年 / 473卷 / 02期

关键词：

Restless legs syndrome; COMT; Polymorphism; Pain; CATECHOL-O-METHYLTRANSFERASE; PARKINSONS-DISEASE; SUSCEPTIBILITY LOCUS; GENETIC ASSOCIATION; LEVODOPA TREATMENT; RISK; DIAGNOSIS; MAPS; SEX;

D O I：

10.1016/j.neulet.2010.02.042

中图分类号：

Q189 [神经科学];

学科分类号：

071006 [神经生物学];

摘要：

The catechol-O-methyltransferase (COMT) val(158)met polymorphism, which codes for the substitution of valine (val) by methionine (met) leading to a reduced COMT activity in homo- or heterozygous individuals, is associated with individual pain sensitivity and dopaminergic responses in Parkinson's disease as well as with various chronic painful diseases. Recent investigations support the notion of an alteration of the medial pain pathway as well as of the descending inhibitory control system in restless legs syndrome (RLS), that both involve dopaminergic transmission as well. Thus, the distribution of the COMT val(158)met polymorphism was assessed in 298 RLS patients and compared with 135 healthy controls in relation to sex, age of onset and family history. The data revealed no significant differences in the distribution of the COMT val(158)met polymorphism in RLS patients compared with the control group, also when the heterozygous and the homozygous group containing the (158)met allele were combined. In addition, sex, age of onset and family history were not associated with the COMT val(158)met polymorphism in this German population of RLS patients. The present study adds to previous mostly negative investigations on the genetic determination of dopaminergic transmission in RLS, which have - so far - only detected an association of the MAO-A activity and RLS in females in a French-Canadian population. Further investigations assessing the different COMT haplotypes and experimental and clinical parameters are nevertheless warranted. (C) 2010 Elsevier Ireland Ltd. All rights reserved.

引用

页码：151 / 154

页数：4

共 37 条

[1]

Abnormally increased CSF 3-Ortho-methyldopa (3-OMD) in untreated restless legs syndrome (RLS) patients indicates more severe disease and possibly abnormally increased dopamine synthesis [J].