Maria Caracausi, Giuseppe Ramacieri, Francesca Catapano, Michela Cicilloni, Bassam Lajin, Maria Chiara Pelleri, Allison Piovesan, Lorenza Vitale, Chiara Locatelli, Gian Luca Pirazzoli, Pierluigi Strippoli, Francesca Antonaros, Beatrice Vione
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引用次数: 0
摘要
一碳代谢途径参与了细胞增殖、线粒体呼吸和表观遗传调节等重要的人体细胞功能。在同型半胱氨酸-蛋氨酸循环中，S-腺苷-蛋氨酸（SAM）和 S-腺苷-同型半胱氨酸（SAH）被合成，它们的水平受到精细调节，以确保控制细胞生长和分化的关键酶的正常运作。在此，我们回顾了涉及 SAM 和 SAH 的主要生物学机制以及已知的相关人类疾病。最近有研究表明，在 21 三体综合征（T21）患者的血浆中，SAM 和 SAH 的水平发生了改变，但这种代谢失调如何影响 T21 表型的临床表现，以前还没有描述过。本综述旨在概述在 DS 中观察到的 SAM 和 SAH 水平变化所引起的生物机制变化。
The functional roles of S-adenosyl-methionine and S-adenosyl-homocysteine and their involvement in trisomy 21
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.
期刊介绍：
BioFactors, a journal of the International Union of Biochemistry and Molecular Biology, is devoted to the rapid publication of highly significant original research articles and reviews in experimental biology in health and disease.
The word “biofactors” refers to the many compounds that regulate biological functions. Biological factors comprise many molecules produced or modified by living organisms, and present in many essential systems like the blood, the nervous or immunological systems. A non-exhaustive list of biological factors includes neurotransmitters, cytokines, chemokines, hormones, coagulation factors, transcription factors, signaling molecules, receptor ligands and many more. In the group of biofactors we can accommodate several classical molecules not synthetized in the body such as vitamins, micronutrients or essential trace elements.
In keeping with this unified view of biochemistry, BioFactors publishes research dealing with the identification of new substances and the elucidation of their functions at the biophysical, biochemical, cellular and human level as well as studies revealing novel functions of already known biofactors. The journal encourages the submission of studies that use biochemistry, biophysics, cell and molecular biology and/or cell signaling approaches.
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