Repository logo
 
Publication

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

2006-11Journal article Open access
Simple item page
dc.contributor.authorCorreia, C.
dc.contributor.authorCoutinho, A.M.
dc.contributor.authorDiogo, L.
dc.contributor.authorGrazina, M.
dc.contributor.authorMarques, C.
dc.contributor.authorMiguel, T.
dc.contributor.authorAtaíde, A.
dc.contributor.authorAlmeida, J.
dc.contributor.authorBorges, L.
dc.contributor.authorOliveira, C.
dc.contributor.authorOliveira, G.
dc.contributor.authorVicente, A.M.
dc.date.accessioned2011-11-30T17:06:25Z
dc.date.available2011-11-30T17:06:25Z
dc.date.issued2006-11
dc.description.abstractIn 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.por
dc.identifier.citationJ Autism Dev Disord. 2006 Nov;36(8):1137-40por
dc.identifier.issn0162-3257
dc.identifier.otherdoi 10.1007/s10803-006-0138-6
dc.identifier.urihttp://hdl.handle.net/10400.18/324
dc.language.isoengpor
dc.peerreviewedyespor
dc.publisherSpringerpor
dc.relation.publisherversionhttp://www.springerlink.com/content/140v676424nx5462/por
dc.subjectAutismpor
dc.subjectMitochondrial Dysfunctionpor
dc.subjectLactate/Pyruvate Ratiopor
dc.subjectSLC25A12 Genepor
dc.subjectGenetic Associationpor
dc.subjectPerturbações do Desenvolvimento Infantil e Saúde Mentalpor
dc.titleBrief report: High frequency of biochemical markers for mitochondrial dysfunction in autism: no association with the mitochondrial aspartate/glutamate carrier SLC25A12 genepor
dc.typejournal article
dspace.entity.typePublication
oaire.citation.endPage1140por
oaire.citation.startPage1137por
oaire.citation.titleJournal of Autism and Developmental Disorderspor
rcaap.rightsopenAccesspor
rcaap.typearticlepor

Files

Original bundle
Now showing 1 - 1 of 1
Thumbnail Image
Name:
Brief Report High Frequency of Biochemical Markers for.pdf
Size:
129.39 KB
Format:
Adobe Portable Document Format
Download
License bundle
Now showing 1 - 1 of 1
No Thumbnail Available
Name:
license.txt
Size:
1.71 KB
Format:
Item-specific license agreed upon to submission
Description:
Download

Collections

DPSPDNT - Artigos em revistas internacionais