Abstract

In Down's syndrome there is evidence that increased gene expression coding for specific cystathionine beta-synthase translates directly into biochemical aberrations, which result in a biochemical and metabolic imbalance of the methyl status. This event is destined to impact mitochondrial function since methylation is a necessary event in mitochondria and relies on the availability and uptake of the methyl donor S-adenosylmethionine. Indeed mitochondrial dysfunctions have been widely described in Down's syndrome, but they have never been correlated to a possible mitochondrial methyl unbalance. In the present study we find that the mitochondrial levels of S-adenosylmethionine are reduced in Down's syndrome compared to control cells demonstrating the effect of the methyl unbalance on mitochondria. The possible role of methylation in mitochondria is discussed and some preliminary results on a possible methylation target are presented.

Autore Pugliese

• Castegna Alessandra , Iacobazzi Vito

Tutti gli autori

• CASTEGNA A.;IACOBAZZI V.

Titolo volume/Rivista

Non Disponibile

Anno di pubblicazione

2011

ISSN

1096-7192

ISBN

Non Disponibile

Numero di citazioni Wos

72

Ultimo Aggiornamento Citazioni

Non Disponibile

Numero di citazioni Scopus

78

Ultimo Aggiornamento Citazioni

Non Disponibile

Settori ERC

Non Disponibile

Codici ASJC

Non Disponibile