title: Brief report: High frequency of biochemical markers for mitochondrial dysfunction in autism: no association with the mitochondrial aspartate/glutamate carrier SLC25A12 gene.
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.
authors.affiliation: Instituto Gulbenkian de Ciência, Rua da Quinta Grande 6, 2781 Oeiras, Portugal.
authors.forename: Catarina
authors.initials: C
authors.lastname: Correia
authors.forename: Ana M
authors.initials: AM
authors.lastname: Coutinho
authors.forename: Luísa
authors.initials: L
authors.lastname: Diogo
authors.forename: Manuela
authors.initials: M
authors.lastname: Grazina
authors.forename: Carla
authors.initials: C
authors.lastname: Marques
authors.forename: Teresa
authors.initials: T
authors.lastname: Miguel
authors.forename: Assunção
authors.initials: A
authors.lastname: Ataíde
authors.forename: Joana
authors.initials: J
authors.lastname: Almeida
authors.forename: Luís
authors.initials: L
authors.lastname: Borges
authors.forename: Catarina
authors.initials: C
authors.lastname: Oliveira
authors.forename: Guiomar
authors.initials: G
authors.lastname: Oliveira
authors.forename: Astrid M
authors.initials: AM
authors.lastname: Vicente
mesh_terms: D001224:Aspartic Acid / Q000235:genetics* / Q000378:metabolism*; D001321:Autistic Disorder / Q000453:epidemiology / Q000235:genetics* / Q000378:metabolism; D002874:Chromosome Mapping; D004252:DNA Mutational Analysis; D017931:DNA Primers / Q000235:genetics; D004272:DNA, Mitochondrial / Q000235:genetics*; D015870:Gene Expression / Q000235:genetics; D005787:Gene Frequency; D018698:Glutamic Acid / Q000235:genetics*; D006239:Haplotypes; D006801:Humans; D019344:Lactic Acid / Q000097:blood; D026901:Membrane Transport Proteins / Q000235:genetics*; D028361:Mitochondrial Diseases / Q000453:epidemiology / Q000235:genetics* / Q000503:physiopathology*; D033681:Mitochondrial Membrane Transport Proteins; D024101:Mitochondrial Proteins / Q000235:genetics*; D019289:Pyruvic Acid / Q000097:blood
chemical_list: D017931:DNA Primers; D004272:DNA, Mitochondrial; D026901:Membrane Transport Proteins; D033681:Mitochondrial Membrane Transport Proteins; D024101:Mitochondrial Proteins; C114606:SLC25A12 protein, human; D001224:Aspartic Acid; D019344:Lactic Acid; D018698:Glutamic Acid; D019289:Pyruvic Acid