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

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 mtD...

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Bibliographic Details
Published in:Neuroscience letters 2008-02, Vol.432 (1), p.79-82
Main Authors: Alvarez, Victoria, Corao, Ana I., Sánchez-Ferrero, Elena, De Mena, Lorena, Alonso-Montes, Cristina, Huerta, Cecilia, Blázquez, Marta, Ribacoba, René, Guisasola, Luis M., Salvador, Carlos, García-Castro, Mónica, Coto, Eliecer
Format: Article
Language:English
Subjects:
Adult
Aged
Aged, 80 and over
Biological and medical sciences
Degenerative and inherited degenerative diseases of the nervous system. Leukodystrophies. Prion diseases
DNA-Binding Proteins - genetics
DNA-polymorphisms
Energy Metabolism - physiology
Female
Fundamental and applied biological sciences. Psychology
Genetic Predisposition to Disease - epidemiology
Genetic Variation
Genotype
Humans
Male
Medical sciences
Middle Aged
Mitochondria
Mitochondria transcription factors
Mitochondrial Proteins - genetics
Mutation, Missense
Neurology
Parkinson Disease - epidemiology
Parkinson Disease - genetics
Parkinson's disease
Polymorphism, Genetic
Risk Factors
Transcription Factors - genetics
Vertebrates: nervous system and sense organs
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Summary: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 (S12T 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.
ISSN:0304-3940
1872-7972
DOI:10.1016/j.neulet.2007.12.010