Impairment of methyl cycle affects mitochondrial methyl availability and glutathione level in Down's syndrome

Vittoria Infantino, Alessandra Castegna, Francesco Iacobazzi, Iolanda Spera, Iris Scala, Generoso Andria, Vito Iacobazzi

Research output: Contribution to journalArticlepeer-review


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.

Original languageEnglish
Pages (from-to)378-382
Number of pages5
JournalMolecular Genetics and Metabolism
Issue number3
Publication statusPublished - Mar 2011


  • Down's syndrome
  • Methylation
  • One-carbon metabolism
  • S-adenosylmethionine carrier

ASJC Scopus subject areas

  • Biochemistry
  • Molecular Biology
  • Genetics
  • Endocrinology
  • Endocrinology, Diabetes and Metabolism


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