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

被引：0

作者：

Caracausi, Maria ^{[1
]}

Ramacieri, Giuseppe ^{[2
,3
]}

Catapano, Francesca ^{[2
]}

Cicilloni, Michela ^{[1
]}

Lajin, Bassam ^{[4
]}

Pelleri, Maria Chiara ^{[1
]}

Piovesan, Allison ^{[1
]}

Vitale, Lorenza ^{[1
]}

Locatelli, Chiara ^{[5
]}

Pirazzoli, Gian Luca ^{[6
]}

Strippoli, Pierluigi ^{[1
]}

Antonaros, Francesca ^{[1
]}

Vione, Beatrice ^{[1
,2
]}

机构：

[1] Univ Bologna, Dept Biomed & Neuromotor Sci DIBINEM, Unit Histol Embryol & Appl Biol, Bologna, Italy

[2] Univ Bologna, Dept Med & Surg Sci DIMEC, Bologna, Italy

[3] Alma Mater Studiorum Univ Bologna, Special Sch Child Neuropsychiat, Bologna, Italy

[4] Karl Franzens Univ Graz, Inst Chem, ChromICP, Graz, Austria

[5] St Orsola Malpighi Polyclin, Neonatol Unit, Bologna, Italy

[6] Maggiore Hosp, Med Dept, Bologna, Italy

来源：

BIOFACTORS | 2024年 / 50卷 / 04期

关键词：

genetic diseases; one-carbon metabolism pathway; S-adenosyl-homocysteine; S-adenosyl-methionine; trisomy; 21; GLYCINE N-METHYLTRANSFERASE; CYSTATHIONINE BETA-SYNTHASE; DOWN-SYNDROME; DNA METHYLATION; CARDIOVASCULAR-DISEASE; CEREBROSPINAL-FLUID; AFFECTIVE-DISORDERS; MENTAL DEFICIENCY; ADENOSYLMETHIONINE; ADENOSYLHOMOCYSTEINE;

D O I：

10.1002/biof.2044

中图分类号：

Q5 [生物化学]; Q7 [分子生物学];

学科分类号：

071010 ; 081704 ;

摘要：

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. Methionine-homocysteine cycle. The functional groups provided by S-adenosyl-methionine (SAM) and their usage are showed. SAH, S-adenosyl-homocysteine. image

引用

页码：709 / 724

页数：16

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