Examination of the MSX1 gene in patients with Parkinson’s disease


Joseph Jankovic, MD, Professor of Neurology, Director of Parkinson Disease Center and Movement Clinic, Department of Neurology, Baylor College of Medicine, 6501 Fannin, NB205, Houston, TX 77030, USA
Tel.: 713 798 5142
Fax: 713 798 8307
e-mail: josephj@bcm.tmc.edu


Background –  Several genetic variants in transcription factor genes have been reported to be associated with Parkinson’s disease (PD). The muscle segment homeobox drosophila homolog of 1 gene (MSX1) is a major upstream regulator of the dopaminergic neuronal subtype specification.

Aims of the study –  To determine whether genetic variation in the coding region of the MSX1 gene plays a role in the etiology of PD.

Methods –  We searched for genetic variations in the coding region of the MSX1 gene in 202 patients with PD and 200 normal controls by PCR-single-strand conformation polymorphism (PCR-SSCP) and sequencing.

Results –  No mutation in the MSX1 gene was identified in our cohort.

Conclusions –  Mutations in the coding region of the MSX1 gene play little or no role in the development of PD.