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Title: Brief report: High frequency of biochemical markers for mitochondrial dysfunction in autism: no association with the mitochondrial aspartate/glutamate carrier SLC25A12 gene
Author: Correia, C.
Coutinho, A.M.
Diogo, L.
Grazina, M.
Marques, C.
Miguel, T.
Ataíde, A.
Almeida, J.
Borges, L.
Oliveira, C.
Oliveira, G.
Vicente, A.M.
Keywords: Autism
Mitochondrial Dysfunction
Lactate/Pyruvate Ratio
SLC25A12 Gene
Genetic Association
Perturbações do Desenvolvimento Infantil e Saúde Mental
Issue Date: Nov-2006
Publisher: Springer
Citation: J Autism Dev Disord. 2006 Nov;36(8):1137-40
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.
Peer review: yes
ISSN: 0162-3257
Publisher Version:
Appears in Collections:DPSPDNT - Artigos em revistas internacionais

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