Brief report: High frequency of biochemical markers for mitochondrial dysfunction in autism: no association with the mitochondrial aspartate/glutamate carrier SLC25A12 gene.
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.
Correia
Catarina
C
Instituto Gulbenkian de Ciência, Rua da Quinta Grande 6, 2781 Oeiras, Portugal.
Coutinho
Ana M
AM
Diogo
Luísa
L
Grazina
Manuela
M
Marques
Carla
C
Miguel
Teresa
T
Ataíde
Assunção
A
Almeida
Joana
J
Borges
Luís
L
Oliveira
Catarina
C
Oliveira
Guiomar
G
Vicente
Astrid M
AM
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
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