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Review
. 2024 Jul-Aug;50(4):709-724.
doi: 10.1002/biof.2044. Epub 2024 Feb 14.

The functional roles of S-adenosyl-methionine and S-adenosyl-homocysteine and their involvement in trisomy 21

Maria Caracausi  1 , Giuseppe Ramacieri  2   3 , Francesca Catapano  2 , Michela Cicilloni  1 , Bassam Lajin  4 , Maria Chiara Pelleri  1 , Allison Piovesan  1 , Lorenza Vitale  1 , Chiara Locatelli  5 , Gian Luca Pirazzoli  6 , Pierluigi Strippoli  1 , Francesca Antonaros  1 , Beatrice Vione  1   2
Affiliations
Review

The functional roles of S-adenosyl-methionine and S-adenosyl-homocysteine and their involvement in trisomy 21

Maria Caracausi et al. Biofactors. 2024 Jul-Aug.

Abstract

The one-carbon metabolism pathway is involved in critical human cellular functions such as cell proliferation, mitochondrial respiration, and epigenetic regulation. In the homocysteine-methionine cycle S-adenosyl-methionine (SAM) and S-adenosyl-homocysteine (SAH) are synthetized, and their levels are finely regulated to ensure proper functioning of key enzymes which control cellular growth and differentiation. Here we review the main biological mechanisms involving SAM and SAH and the known related human diseases. It was recently demonstrated that SAM and SAH levels are altered in plasma of subjects with trisomy 21 (T21) but how this metabolic dysregulation influences the clinical manifestation of T21 phenotype has not been previously described. This review aims at providing an overview of the biological mechanisms which are altered in response to changes in the levels of SAM and SAH observed in DS.

Keywords: S‐adenosyl‐homocysteine; S‐adenosyl‐methionine; genetic diseases; one‐carbon metabolism pathway; trisomy 21.

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References

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