Differential expression of cystathionine beta synthase in adolescents with Down syndrome: impact on adiposity

Theodor Bilharz Research Institute

Bibliographic Information

Authors: Meguid N.A.; Hemimi M.; Ghozlan S.A.S.; Kandeel W.A.; Hashish A.F.; Gouda A.S.; Nazim W.S.; Mohamed M.F.

Journal: Journal of Diabetes and Metabolic Disorders

Publisher: Springer Science and Business Media Deutschland GmbH

Publication Date: 12 August 2022

Volume / Issue: Volume 21 / Issue 2

Pages: 1491–1497

ISSN: 22516581

DOI: 10.1007/s40200-022-01087-z

Scopus: View on Scopus

Document Type: Article

Access: All Open Access; Green Open Access

Authors and Affiliations

Meguid N.A., Department of Research on Children with Special Needs, Medical Research and Clinical Studies Institute, National Research Centre, Cairo, Egypt, CONEM Egypt Child Brain Research Group, National Research Centre, Cairo, Egypt; Hemimi M., Department of Research on Children with Special Needs, Medical Research and Clinical Studies Institute, National Research Centre, Cairo, Egypt; Ghozlan S.A.S., Department of Chemistry, Faculty of Science, Cairo University, Giza, Egypt; Kandeel W.A., Department of Biological Anthropology, Medical Research and Clinical Studies Institute, National Research Centre, Cairo, Egypt, Theodor Bilharz Research Institute, Giza, Egypt; Hashish A.F., Department of Research on Children with Special Needs, Medical Research and Clinical Studies Institute, National Research Centre, Cairo, Egypt; Gouda A.S., Department of Biochemical Genetics, Human Genetics and Genome Research Institute, National Research Centre, Cairo, Egypt; Nazim W.S., Department of Biochemical Genetics, Human Genetics and Genome Research Institute, National Research Centre, Cairo, Egypt; Mohamed M.F., Department of Chemistry (Biochemistry Branch), Faculty of Science, Cairo University, Giza, Egypt, Department of Chemistry, College of Science and Arts at Khulais, University of Jeddah, Jeddah, Saudi Arabia

Abstract

Purpose:: Obesity is more prevalent among people with Down Syndrome (DS) compared to general population. In this pilot study, we investigated the effect of cystathionine beta-synthase (CBS) overdosage on the regulation of transsulfuration pathway and the obesity phenotype in fifty adolescents (25 obese/overweight and 25 lean) with trisomy 21. Methods:: The transcriptional levels of CBS in leukocytes and its translational levels in plasma were quantified using real time polymerase chain reaction and enzyme-linked immunosorbent assay respectively. Meanwhile, ultra performance liquid chromatography tandem mass spectrometry was used to determine the plasma concentrations of methionine, homocysteine, cystathionine and cysteine. Fasting plasma lipid profiles were assessed by colorimetric assays. The anthropometric measurements and indices of all subjects were recorded. Results:: Both DS groups had comparable levels of CBS transcripts (p = 0.2734). The plasma levels of the enzyme were significantly higher in the lean DS cases (p = 0.0174) compared to the obese/overweight participants. Total cholesterol, triglycerides, high-density lipoprotein, low-density lipoprotein, methionine, homocysteine, cystathionine and cysteine showed similar plasma levels in both groups. However, the plasma cysteine levels exceeded the normal range in all DS cases. We reported a statistically significant inverse association between CBS enzyme levels and weight (r= − 0.3498, p = 0.0128), hip circumference (r= − 0.3584, p = 0.0106), body mass index (r= − 0.3719, p = 0.0078) and body adiposity index (r= − 0.3183, p = 0.0243). Conclusions: Our data suggests that the high concentrations of CBS enzyme together with cysteine modulate the DS obesity presumably through increased hydrogen sulfide production which has recently showed anti-adiposity effects. © 2022, The Author(s), under exclusive licence to Tehran University of Medical Sciences.

Keywords

Cystathionine beta synthase; Cysteine; Down Syndrome; Obesity; complementary DNA; cystathionine; high density lipoprotein cholesterol; homocysteine; low density lipoprotein cholesterol; messenger RNA; methionine; triacylglycerol; adolescent; adult; amino acid blood level; arm circumference; Article; body adiposity index; body fat percentage; body mass; body weight; CBS gene; cholesterol blood level; controlled study; disease association; DNA synthesis; enzyme blood level; female; genetic transcription; hip circumference; human; major clinical study; male; protein expression; RNA extraction; sulfation; triacylglycerol blood level; waist circumference; waist to height ratio

Citation Information

Scopus Citations: 5

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