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Journal of Autism and Developmental Disorders

Gepubliceerd in:

01-11-2006 | Brief Communication

Brief Report: High Frequency of Biochemical Markers for Mitochondrial Dysfunction in Autism: No Association with the Mitochondrial Aspartate/Glutamate Carrier SLC25A12 Gene

Auteurs: 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

Gepubliceerd in: Journal of Autism and Developmental Disorders | Uitgave 8/2006

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.

vorige artikel Brief Report: S6 Ribosomal Protein Phosphorylation in Autistic Frontal Cortex and Cerebellum: a Tissue Array Analysis

volgende artikel Letter to the Editor: Comment on “The Adult Asperger Assessment (AAA): A Diagnostic Method”, Simon Baron-Cohen, Sally Wheelwright, Janine Robinson and Marc Woodbury-Smith, Journal of Autism and Developmental Disorders Vol 35(6)

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Titel: Brief Report: High Frequency of Biochemical Markers for Mitochondrial Dysfunction in Autism: No Association with the Mitochondrial Aspartate/Glutamate Carrier SLC25A12 Gene
Auteurs: 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
Publicatiedatum: 01-11-2006
Uitgeverij: Kluwer Academic Publishers-Plenum Publishers
Gepubliceerd in: Journal of Autism and Developmental Disorders / Uitgave 8/2006
Print ISSN: 0162-3257
Elektronisch ISSN: 1573-3432
DOI: https://doi.org/10.1007/s10803-006-0138-6

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