Literature DB >> 31443780

Mental retardation in Down syndrome: Two ways to treat.

Pierre P Kamoun1.   

Abstract

Mental retardation is a progressive condition in Down syndrome: intelligence starts to decline linearly within the first year. This phenomenon could be related to the overproduction of a toxic compound, hydrogen sulfide. Indeed, a gene located on chromosome 21 controls the production of cystathionine-β-synthase, an enzyme involved in hydrogen sulfide production in the central nervous system. It has recently been demonstrated that excess cystathionine-β-synthase levels are needed and sufficient to induce cognitive phenotypes in mouse models of Down syndrome. Thus, two therapeutic options might be used in Down syndrome patients: the use of a specific cystathionine β-synthase inhibitor and the use of an effective antidote to reduce hydrogen sulfide toxicity. Prenatal treatment of Down syndrome fetuses is also suggested.
Copyright © 2019 Elsevier Ltd. All rights reserved.

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Year:  2019        PMID: 31443780     DOI: 10.1016/j.mehy.2019.109289

Source DB:  PubMed          Journal:  Med Hypotheses        ISSN: 0306-9877            Impact factor:   1.538


  6 in total

Review 1.  Cystathionine-β-Synthase: Molecular Regulation and Pharmacological Inhibition.

Authors:  Karim Zuhra; Fiona Augsburger; Tomas Majtan; Csaba Szabo
Journal:  Biomolecules       Date:  2020-04-30

2.  Identification of 8-Hydroxyquinoline Derivatives That Decrease Cystathionine Beta Synthase (CBS) Activity.

Authors:  Pierre Conan; Alice Léon; Mathilde Gourdel; Claire Rollet; Loubna Chaïr; Noéline Caroff; Nelig Le Goux; Catherine Le Jossic-Corcos; Maha Sinane; Lucile Gentile; Louise Maillebouis; Nadège Loaëc; Jennifer Martin; Marie Vilaire; Laurent Corcos; Olivier Mignen; Mikael Croyal; Cécile Voisset; Frédéric Bihel; Gaëlle Friocourt
Journal:  Int J Mol Sci       Date:  2022-06-17       Impact factor: 6.208

3.  Role of 3-Mercaptopyruvate Sulfurtransferase in the Regulation of Proliferation and Cellular Bioenergetics in Human Down Syndrome Fibroblasts.

Authors:  Theodora Panagaki; Elisa B Randi; Csaba Szabo
Journal:  Biomolecules       Date:  2020-04-23

Review 4.  Meta-analysis of metabolites involved in bioenergetic pathways reveals a pseudohypoxic state in Down syndrome.

Authors:  Laszlo Pecze; Elisa B Randi; Csaba Szabo
Journal:  Mol Med       Date:  2020-11-09       Impact factor: 6.354

5.  Why Is Health Care for Children with Down Syndrome So Crucial from the First Days of Life? A Retrospective Cohort Study Emphasized Transient Abnormal Myelopoiesis (TAM) Syndrome at Three Centers.

Authors:  Gabriela Telman; Patrycja Sosnowska-Sienkiewicz; Ewa Strauss; Jan Mazela; Przemysław Mańkowski; Danuta Januszkiewicz-Lewandowska
Journal:  Int J Environ Res Public Health       Date:  2022-08-08       Impact factor: 4.614

6.  Overproduction of hydrogen sulfide, generated by cystathionine β-synthase, disrupts brain wave patterns and contributes to neurobehavioral dysfunction in a rat model of down syndrome.

Authors:  Theodora Panagaki; Laura Lozano-Montes; Lucia Janickova; Karim Zuhra; Marcell P Szabo; Tomas Majtan; Gregor Rainer; Damien Maréchal; Yann Herault; Csaba Szabo
Journal:  Redox Biol       Date:  2022-01-13       Impact factor: 10.787

  6 in total

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