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

Autor/inn/en	Correia, Catarina; Coutinho, Ana M.; Diogo, Luisa; Grazina, Manuela; Marques, Carla; Miguel, Teresa; Ataide, Assuncao; Almeida, Joana; Borges, Luis; Oliveira, Catarina; Oliveira, Guiomar; Vicente, Astrid M.
Titel	Brief Report: High Frequency of Biochemical Markers for Mitochondrial Dysfunction in Autism: No Association with the Mitochondrial Aspartate/Glutamate Carrier "SLC25A12" Gene
Quelle	In: Journal of Autism and Developmental Disorders, 36 (2006) 8, S.1137-1140 (4 Seiten) PDF als Volltext Verfügbarkeit
Sprache	englisch
Dokumenttyp	gedruckt; online; Zeitschriftenaufsatz
ISSN	0162-3257
DOI	10.1007/s10803-006-0138-6
Schlagwörter	Autism; Genetics; Biochemistry; Correlation + Suchen Sie Ihr Suchwort? Autismus; Humangenetik; Biochemie; Korrelation
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. (Author).
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Erfasst von	ERIC (Education Resources Information Center), Washington, DC
Update	2017/4/10