Mitochondrial transcription factor A (TFAM) gene variation in Parkinson's disease

被引：27

作者：

Alvarez, Victoria ^{[1
]}

Corao, Ana I. ^{[1
]}

Sanchez-Ferrero, Elena ^{[1
]}

De Mena, Lorena ^{[1
]}

Alonso-Montes, Cristina ^{[1
]}

Huerta, Cecilia ^{[1
]}

Blazquez, Marta ^{[2
]}

Ribacoba, Rene ^{[2
]}

Guisasola, Luis M. ^{[2
]}

Salvador, Carlos ^{[2
]}

Garcia-Castro, Monica ^{[1
]}

Coto, Eliecer ^{[1
]}

机构：

[1] Hosp Cent Asturias Maternidas, Oviedo 33006, Spain

[2] Hosp Cent Astuaries Buylla Mieres, Asturias, Spain

来源：

NEUROSCIENCE LETTERS | 2008年 / 432卷 / 01期

关键词：

mitochondria; Parkinson's disease; mitochondria transcription factors; DNA-polymorphisms;

D O I：

10.1016/j.neulet.2007.12.010

中图分类号：

Q189 [神经科学];

学科分类号：

071006 ;

摘要：

Mitochondrial function is necessary to supply the energy required for cell metabolism. Mutations/polymorphisms in mitochondrial DNA (mtDNA) have been implicated in Parkinson's disease (PD). The mitochondrial transcription factor A (TFAM) controls the transcription of mtDNA and regulates the mtDNA-copy number, thus being important for maintaining ATP production. TFAM dysfunction may also be involved in PD, and TFAM gene mutations/polymorphisms could contribute to the risk of developing PD. We searched for gene variants in the seven TFAM-exons in a total of 250 PD-patients. We found five common polymorphisms, and only one was a missense change (S 12T in exon 1). Genotype and allele frequencies did not differ between patients and healthy controls (n = 225) for the five polymorphisms. Our work suggests that TFAM-variants did not contribute to the risk of developing PD. (c) 2007 Elsevier Ireland Ltd. All rights reserved.

引用

页码：79 / 82

页数：4

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