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Mutational analysis of neurotensin in familial restless legs syndrome

✍ Scribed by Alex Desautels; Gustavo Turecki; Lan Xiong; Daniel Rochefort; Jacques Montplaisir; Guy A. Rouleau

Publisher
John Wiley and Sons
Year
2004
Tongue
English
Weight
81 KB
Volume
19
Category
Article
ISSN
0885-3185

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✦ Synopsis

Abstract

A susceptibility locus for restless legs syndrome (RLS) has been identified recently on chromosome 12q. This region contains several transcribed genes including neurotensin (NTS), which, as an important modulator of the dopaminergic transmission, represents a strong functional and positional candidate in the context of RLS. In this study, NTS was evaluated for mutational analysis. A panel of 19 individuals from 4 families supporting linkage to 12q was investigated using a combined denaturing high‐performance liquid chromatography (dHPLC) and direct sequencing method. Analysis of the NTS genomic sequence revealed 2 intronic polymorphisms and 1 variant located in the 5′ untranslated region (UTR). None of the observed variants co‐segregated with RLS and no disease‐associated polymorphisms were detected in any of the analyzed families. Based on these results, it is unlikely that NTS is the gene responsible for RLS in chromosome 12‐linked families. © 2003 Movement Disorder Society

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