Brief report: High frequency of biochemical markers for mitochondrial dysfunction in autism: no association with the mitochondrial aspartate/glutamate carrier SLC25A12 gene

• Autor(a) principal: Correia, C.
• Data de Publicação: 2006
• Outros Autores: Coutinho, A.M., Diogo, L., Grazina, M., Marques, C., Miguel, T., Ataíde, A., Almeida, J., Borges, L., Oliveira, C., Oliveira, G., Vicente, A.M.
• Tipo de documento: Artigo
• Idioma: eng
• Título da fonte: Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos)
• Texto Completo: http://hdl.handle.net/10400.18/324
• topic: Autism; Mitochondrial Dysfunction; Lactate/Pyruvate Ratio; SLC25A12 Gene; Genetic Association; Perturbações do Desenvolvimento Infantil e Saúde Mental

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.