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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Authors: | Catarina Correia Ana M. Coutinho Luísa Diogo Manuela Grazina Carla Marques Teresa Miguel Assunção Ataíde Joana Almeida Luís Borges Catarina Oliveira Guiomar Oliveira Astrid M. Vicente |
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Affiliation: | Instituto Gulbenkian de Ciência, Rua da Quinta Grande 6, 2781 Oeiras, Portugal. |
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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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Keywords: | Autism Mitochondrial Dysfunction Lactate/Pyruvate Ratio SLC25A12 Gene Genetic Association |
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