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Brief Report: High Frequency of Biochemical Markers for Mitochondrial Dysfunction in Autism: No Association with the Mitochondrial Aspartate/Glutamate Carrier SLC25A12 Gene

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Abstract

In the present study we confirm the previously reported high frequency of biochemical markers of mitochondrial dysfunction, namely hyperlactacidemia and increased lactate/pyruvate ratio, in a significant fraction of 210 autistic patients. We further examine the involvement of the mitochondrial aspartate/glutamate carrier gene (SLC25A12) in mitochondrial dysfunction associated with autism. We found no evidence of association of the SLC25A12 gene with lactate and lactate/pyruvate distributions or with autism in 241 nuclear families with one affected individual. We conclude that while mitochondrial dysfunction may be one of the most common medical conditions associated with autism, variation at the SLC25A12 gene does not explain the high frequency of mitochondrial dysfunction markers and is not associated with autism in this sample of autistic patients.

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Acknowledgments

This work was supported by the Fundação Calouste Gulbenkian and by the Fundação para a Ciência e Tecnologia (POCTI/39636/ESP/2001). C. Correia and AMCoutinho are supported by fellowships from the Fundação para a Ciência e Tecnologia (SFRH/BD/16907/2004 and SFRH/BD/3145/2000).

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Authors and Affiliations

  1. Instituto Gulbenkian de Ciência, Rua da Quinta Grande, 6, 2781, Oeiras, Portugal

    Catarina Correia, Ana M. Coutinho & Astrid M. Vicente

  2. Centro de Desenvolvimento da Criança, Hospital Pediátrico de Coimbra, Coimbra, Portugal

    Luísa Diogo, Carla Marques, Joana Almeida, Luís Borges & Guiomar Oliveira

  3. Centro de Neurociências e Biologia Celular, Coimbra, Portugal

    Manuela Grazina & Catarina Oliveira

  4. Direcção Regional de Educação da Região Centro, Coimbra, Portugal

    Teresa Miguel & Assunção Ataíde

  5. Instituto Nacional de Saúde Dr. Ricardo Jorge, Av. Padre Cruz, 1649-016, Lisboa, Portugal

    Astrid M. Vicente

Authors
  1. Catarina Correia
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  2. Ana M. Coutinho
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  3. Luísa Diogo
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  4. Manuela Grazina
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  5. Carla Marques
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  6. Teresa Miguel
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  7. Assunção Ataíde
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  8. Joana Almeida
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  9. Luís Borges
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  10. Catarina Oliveira
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  11. Guiomar Oliveira
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  12. Astrid M. Vicente
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Corresponding author

Correspondence to Astrid M. Vicente.

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Correia, C., Coutinho, A.M., Diogo, L. et al. Brief Report: High Frequency of Biochemical Markers for Mitochondrial Dysfunction in Autism: No Association with the Mitochondrial Aspartate/Glutamate Carrier SLC25A12 Gene. J Autism Dev Disord 36, 1137–1140 (2006). https://doi.org/10.1007/s10803-006-0138-6

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  • DOI: https://doi.org/10.1007/s10803-006-0138-6

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