Dataset Information

CUGC for Simpson-Golabi-Behmel syndrome (SGBS).

ABSTRACT: NAME OF THE DISEASE (SYNONYMS):Simpson-Golabi-Behmel syndrome (SGBS). OMIM# OF THE DISEASE: 312870. NAME OF THE ANALYSED GENES OR DNA/CHROMOSOME SEGMENTS:GPC3. OMIM# OF THE GENE(S): 300037. Review of the analytical and clinical validity as well as of the clinical utility of DNA-based testing for mutations in the GPC3 gene(s) in ? diagnostic, ? predictive and ? prenatal settings and for ? risk assessment in relatives.

SUBMITTER: Vuillaume ML

PROVIDER: S-EPMC6460641 | biostudies-literature | 2019 Apr

REPOSITORIES: biostudies-literature

ACCESS DATA

Publications

CUGC for Simpson-Golabi-Behmel syndrome (SGBS).

Vuillaume Marie-Laure ML Moizard Marie-Pierre MP Baumer Alessandra A Cottereau Edouard E Brioude Frédéric F Rauch Anita A Toutain Annick A

European journal of human genetics : EJHG 20190125 4

<h4>Name of the disease (synonyms)</h4>Simpson-Golabi-Behmel syndrome (SGBS). OMIM# OF THE DISEASE: 312870.<h4>Name of the analysed genes or dna/chromosome segments</h4>GPC3. OMIM# OF THE GENE(S): 300037. Review of the analytical and clinical validity as well as of the clinical utility of DNA-based testing for mutations in the GPC3 gene(s) in ⊠ diagnostic, ☐ predictive and ⊠ prenatal settings and for ⊠ risk assessment in relatives. ...[more]

PMID: 30683921

Similar Datasets

Project description:IntroductionObesity is a major health problem because it is associated with increased risk of cardiovascular disease, diabetes, hypertension, and some cancers. Strategies to prevent or reduce obesity focus mainly on the possible effects of natural compounds that can induce a phenotype of browning adipocytes capable of releasing energy in the form of heat. Allicin, a bioactive component of garlic with numerous pharmacological functions, is known to stimulate energy metabolism.MethodsIn the present study, the effects of allicin on human Simpson-Golabi-Behmel Syndrome (SGBS) cells were investigated by quantifying the dynamics of lipid droplets (LDs) and mitochondria, as well as transcriptomic changes after six days of differentiation.ResultsAllicin significantly promoted the reduction in the surface area and size of LDs, leading to the formation of multilocular adipocytes, which was confirmed by the upregulation of genes related to lipolysis. The increase in the number and decrease in the mean aspect ratio of mitochondria in allicin-treated cells indicate a shift in mitochondrial dynamics toward fission. The structural results are confirmed by transcriptomic analysis showing a significant arrangement of gene expression associated with beige adipocytes, in particular increased expression of T-box transcription factor 1 (TBX1), uncoupling protein 1 (UCP1), PPARG coactivator 1 alpha (PPARGC1A), peroxisome proliferator-activated receptor alpha (PPARA), and OXPHOS-related genes. The most promising targets are nuclear genes such as retinoid X receptor alpha (RXRA), retinoid X receptor gamma (RXRG), nuclear receptor subfamily 1 group H member 3 (NR1H3), nuclear receptor subfamily 1 group H member 4 (NR1H4), PPARA, and oestrogen receptor 1 (ESR1).DiscussionTranscriptomic data and the network pharmacology-based approach revealed that genes and potential targets of allicin are involved in ligand-activated transcription factor activity, intracellular receptor signalling, regulation of cold-induced thermogenesis, and positive regulation of lipid metabolism. The present study highlights the potential role of allicin in triggering browning in human SGBS cells by affecting the LD dynamics, mitochondrial morphology, and expression of brown marker genes. Understanding the potential targets through which allicin promotes this effect may reveal the underlying signalling pathways and support these findings.

Dataset Information

CUGC for Simpson-Golabi-Behmel syndrome (SGBS).

Publications

CUGC for Simpson-Golabi-Behmel syndrome (SGBS).

Similar Datasets

OmicsDI is part of the ELIXIR infrastructure

Tweets