Feb 202011

Nel sito http://www.ncbi.nlm.nih.gov/pubmed, cioè l’archivio in rete delle pubblicazioni scientifiche, è reperibile l’Abstract, cioè un sunto, in inglese relativo alla notizia della scoperta della correlazione tra una alterazione del gene RORA ed autismo.

Lo riporto integralmente così com’è.

Una piccola goccia in un grande mare di ignoranza sulla patogenesi e l’eziologia dell’autismo.

Però non è possibile “a priori” sapere quale sarà il piccolo tassello che ci permetterà di scardinare la fortezza dentro cui nasconde l’autistico, quindi ben venga ogni novità, naturalmente se scientificamente valida.


2010 Aug;24(8):3036-51. Epub 2010 Apr 7.

Global methylation profiling of lymphoblastoid cell lines reveals epigenetic contributions to autism spectrum disorders and a novel autism candidate gene, RORA, whose protein product is reduced in autistic brain.

Nguyen A, Rauch TA, Pfeifer GP, Hu VW.

Correspondence: Department of FASEB J.Biochemistry and Molecular Biology, George Washington University Medical Center, 2300 Eye St., N.W., Washington, DC 20037, USA.


Autism is currently considered a multigene disorder with epigenetic influences. To investigate the contribution of DNA methylation to autism spectrum disorders, we have recently completed large-scale methylation profiling by CpG island microarray analysis of lymphoblastoid cell lines derived from monozygotic twins discordant for diagnosis of autism and their nonautistic siblings. Methylation profiling revealed many candidate genes differentially methylated between discordant MZ twins as well as between both twins and nonautistic siblings. Bioinformatics analysis of the differentially methylated genes demonstrated enrichment for high-level functions including gene transcription, nervous system development, cell death/survival, and other biological processes implicated in autism. The methylation status of 2 of these candidate genes, BCL-2 and retinoic acid-related orphan receptor alpha (RORA), was further confirmed by bisulfite sequencing and methylation-specific PCR, respectively. Immunohistochemical analyses of tissue arrays containing slices of the cerebellum and frontal cortex of autistic and age- and sex-matched control subjects revealed decreased expression of RORA and BCL-2 proteins in the autistic brain. Our data thus confirm the role of epigenetic regulation of gene expression via differential DNA methylation in idiopathic autism, and furthermore link molecular changes in a peripheral cell model with brain pathobiology in autism.

PMID: 20375269 [PubMed – indexed for MEDLINE]PMCID: PMC2909294 [Available on 2011/8/1]

fonte: http://www.ncbi.nlm.nih.gov/pubmed/20375269

Dott. Salvatore Nicolosi

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