Assessment of immune function in Down syndrome patients

Abdelsalam, Eman M. Nagiub; Abdel-Meguid, Iman Ehsan; Korraa, Soheir

doi:10.1016/j.ejmhg.2013.05.003

Cited by 7 publications

(4 citation statements)

References 33 publications

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“…IL-2 cytokine was not statistically different in between DS patients and controls (36.4 ± 2.6 vs. 37.4 ± 0.9). [ 28 ] On the contrary to our meta-analysis, various studies reported that the concentration (pg/ml) of IL-2 level was significantly different in between patients with DS and healthy controls. [ 17 24 27 30 32 33 ] They reported that the concentration (pg/ml) of IL-2 was statistically higher in patients with DS when contrasted with controls.…”

Section: Discussioncontrasting

confidence: 74%

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Altered pro-inflammatory and anti-inflammatory plasma cytokines levels in children with Down’s syndrome

Nigam

Singh

Raizada

et al. 2021

Journal of Family Medicine and Primary Care

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Background: Down syndrome (DS) is the commonest chromosomal anomalies at birth. DS is portrayed by the event of extra complete/deficient duplicate of chromosome number 21 (trisomy 21). Around the world, this disordered influencing roughly 1 out of 1000 infants. Pro-inflammatory and anti-inflammatory cytokines engaged with a few physiological procedures involving the guideline of inflammatory reactions. In DS kids, the creation of few important inflammatory and anti-inflammatory cytokines is altered. Different investigations shows that the cytokines are dysregulated in patients with DS. In this study, we led a meta-analysis to evaluate the connections of pro-inflammatory and anti-inflammatory cytokine changes in youngsters with DS patients. Methodology: We searched PubMed, Google and Web of Science for studies in exploring the association of pro-inflammatory and anti-inflammatory serum level with DS patients. Total 10 studies were included in the meta-analysis. The random effects were used to analyze the pooled data. All statistical tests were two-sided. Results: High circulating level of serum MCP-1 was significantly associated with DS [Cohen's d = 143.91 95% confidence interval (CI) =110.38-177.43]. However, the other circulating cytokines IL-2 and IL-17 level were lower whereas IL-13 level was higher but not significantly different in DS as contrasted to healthy controls. The heterogeneity level was higher in IL-2, IL-13 and IL-17 cytokines. Conclusion: This meta-analysis shows that the higher circulating level of MCP-1 was associated with DS.

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Section: Discussioncontrasting

confidence: 74%

“…Thus, an aggregate of 10 studies were incorporated for the meta-analysis which encompasses 485 DS patients and 381 healthy controls. [ 15 16 25 26 27 28 29 30 31 32 ]…”

Section: Resultsmentioning

confidence: 99%

Altered pro-inflammatory and anti-inflammatory plasma cytokines levels in children with Down’s syndrome

Nigam

Singh

Raizada

et al. 2021

Journal of Family Medicine and Primary Care

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“…dysfunction in Down syndrome [278][279][280][281]. While the elevation of H2S production in Down syndrome has subsequently been repeatedly confirmed [90,282], the actual functional role of CBS-derived H2S in the pathogenesis of mitochondrial dysfunction remained untested until 2019, when our group has directly tested the hypothesis by evaluating the effect of CBS silencing (as well as the effect of AOAA, a PLP-dependent enzyme inhibitor with limited selectivity for CBS, see below) on the proliferation, mitochondrial oxygen consumption and Complex IV activity in Down syndrome fibroblasts. We observed that CBS silencing improves bioenergetic functions, restores Complex IV activity, and these effects culminate in an improved viability and proliferative rate of these cells [90] (Figure 9).…”

Section: Down Syndromementioning

confidence: 95%

Cystathionine-β-synthase: Molecular Regulation and Pharmacological Inhibition

et al. 2020

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Cystathionine-β-synthase (CBS), the first (and rate-limiting) enzyme in the transsulfuration pathway, is an important mammalian enzyme in health and disease. Its biochemical functions under physiological conditions include the metabolism of homocysteine (a cytotoxic molecule and cardiovascular risk factor) and the generation of hydrogen sulfide (H2S), a gaseous biological mediator with multiple regulatory roles in the vascular, nervous, and immune system. CBS is up-regulated in several diseases, including Down syndrome and many forms of cancer; in these conditions, the preclinical data indicate that inhibition or inactivation of CBS exerts beneficial effects. This article overviews the current information on the expression, tissue distribution, physiological roles, and biochemistry of CBS, followed by a comprehensive overview of direct and indirect approaches to inhibit the enzyme. Among the small-molecule CBS inhibitors, the review highlights the specificity and selectivity problems related to many of the commonly used “CBS inhibitors” (e.g., aminooxyacetic acid) and provides a comprehensive review of their pharmacological actions under physiological conditions and in various disease models.

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“…Due to a “gene dosage effect”, the elevation of CBS mRNA and CBS protein in individuals with DS has been well established for several decades [ [14] , [15] , [16] , [17] ]. Pierre Kamoun and his colleagues have demonstrated that DS individuals exhibit increased urinary levels of the stable H 2 S metabolite thiosulfate [ 21 , 22 ], a finding that has been also confirmed by an independent group [ 23 ]. According to the “Kamoun Hypothesis” [ 5 ], the excess H 2 S exerts cytostatic and/or cytotoxic effects in DS, due to its metabolic inhibitory effect, thereby identifying CBS as a potential therapeutic target.…”

Section: Discussionmentioning

confidence: 82%