Screening for mutations of the IRP2 gene in Parkinson's disease patients with hyperechogenicity of the substantia nigra

被引:20
|
作者
Deplazes, J
Schöbel, K
Hochstrasser, H
Bauer, P
Walter, U
Behnke, S
Spiegel, J
Becker, G
Riess, O
Berg, D
机构
[1] Univ Tubingen, Inst Human Genet, D-72076 Tubingen, Germany
[2] Univ Rostock, Dept Neurol, D-2500 Rostock 1, Germany
[3] Univ Homburg, Dept Neurol, D-6650 Homburg, Germany
[4] Univ Tubingen, Hertie Inst Brain Res, D-72076 Tubingen, Germany
关键词
Parkinson's disease; iron metabolism; IRP2; transcranial ultrasound;
D O I
10.1007/s00702-004-0125-z
中图分类号
R74 [神经病学与精神病学];
学科分类号
摘要
IRP2 plays an important role in brain iron metabolism. We recently identified an increased amount of iron in patients with Parkinson's disease (PD) and hyperchogenicity of the substantia nigra (SN). Therefore, the IRP2 gene was screened for mutations in 176 PD patients with increased echogenicity of the SN. We identified one non-synonymous polymorphism (I888V) in exon 21 and a -88C > T polymorphism in the promoter region of IRP2 at similar frequencies in patients and controls without increased SN iron levels. In one patient a -74C > T variation was found which was not present in the control group. Our data indicate that mutations in the IRP2 gene are not a common cause of PD associated with SN iron accumulation.
引用
收藏
页码:515 / 521
页数:7
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