Role of the cystathionine β-synthase / H2S pathway in the development of cellular metabolic dysfunction and pseudohypoxia in down syndrome

Epigenetic Control of Hyperuricemia and Gout by Gene Writer DNMT1 and RNA Editor ADAR1: Mechanism of Gout and Amyloid Dissolution in Down Syndrome

“…Additionally, the extra copy of chromosome 21 in DS results in an increased dosage of important metabolic genes or mutations in them that are involved in mitochondrial sulfur metabolism, including the cystathionine beta-synthase (CBS), methylenetetrahydrofolate reductase (MTHFR), and the calcium channel transient receptor potential vanilloid 1 (TRPV1) (Fig. 1) (2)(3)(4)(5)(6)(7)(8)(9)(10)(11). Further, enzymes such as 3-mercaptopyruvate sulfur transferase (3MST) and cystathionine -lyase (CSE) are also upregulated in DS subjects (9).…”

Stretchable Electrochemical Sensor Based on a Gold Nanowire and Carbon Nanotube Network for Real-Time Tracking Cell-Released H2S

“…Endogenous hydrogen sulfide (H 2 S), mainly generated during the metabolism of cysteine in living organisms, has been regarded as the third endogenous gasotransmitter in biological processes following nitric oxide and carbon monoxide. , H 2 S plays significant roles in the regulation of various physiological activities including anti-inflammation, nerve transmission, immune system stabilization, cell proliferation, etc. − Abnormal levels of H 2 S have also been associated with multiple pathological processes and induce many diseases, such as Alzheimer’s disease, Parkinson′s disease, ischemic stroke, Down syndrome, , cancer, , and so on. In addition, H 2 S is an important antihypertensive agent, which has both vasorelaxing and vasoconstricting effects in the cardiovascular system. , Previous studies have confirmed the interaction between nitric oxide and H 2 S in some signaling pathways, and H 2 S may be related to signal molecules triggered by mechanical force such as shear flow in living cells and organisms .…”

“…1,2 H 2 S plays significant roles in the regulation of various physiological activities including anti-inflammation, nerve transmission, immune system stabilization, cell proliferation, etc. 3−8 Abnormal levels of H 2 S have also been associated with multiple pathological processes and induce many diseases, such as Alzheimer's disease, 9 Parkinson′s disease, 10 ischemic stroke, 11 Down syndrome, 12,13 cancer, 14,15 and so on. In addition, H 2 S is an important antihypertensive agent, which has both vasorelaxing and vasoconstricting effects in the cardiovascular system.…”

Editorial: Innovative approaches and therapeutic perspectives for early-onset neurodevelopmental disorders: from bench to bedside

“…Conan et al employed a multifaceted approach, combining genetic and drug screenings utilizing a cellular model that overexpressed CYS4, the homolog of Cystathionine beta synthase (CBS) in Saccharomyces cerevisiae. Their goal was to gain further insights into the molecular mechanisms governing the regulation of CBS, a pivotal protein underlying DS pathology along with Dyrk1a (Panagaki et al, 2022 ). The study shed light on the significance of Akt/GSK3β and NF-κB pathways in regulating CBS activity and expression.…”