Year: 2018
Type: preprint
Abstract: In Down syndrome (DS), the overall genetic imbalance caused by trisomy of chromosome 21 leads to a complex pleiotropic phenotype that involves a recognizable set of facial traits. Several studies have shown the potential of epigallocatechin-3-gallate (EGCG), a green tea flavanol, as a therapeutic tool for alleviating different developmental alterations associated with DS, such as cognitive impairment, skull dysmorphologies, and skeletal deficiencies. Here we provide for the first time experimental and clinical evidence of the potential benefits of EGCG treatment to facial morphology. Our results showed that mouse models treated with low dose of EGCG during pre- and postnatal development improved facial dysmorphology. However, the same treatment at high dose produced disparate facial morphology changes with an extremely wide and abnormal range of variation. Our observational study in humans revealed that EGCG treatment since early in development is associated with intermediate facial phenotypes and significant facial improvement scores. Overall, our findings suggest a potential beneficial effect of ECGC on facial development, which requires further research to pinpoint the optimal dosages of EGCG that reliably improve DS phenotypes. Current evidence warns against the non-prescribed intake of this supplement as a health-promoting measure.
DOI: 10.1101/276493
Institutions: University of Central Florida, KU Leuven, Universitat Pompeu Fabra, Barcelona Institute of Science and Technology, Centre for Genomic Regulation, Centre for Biomedical Network Research on Rare Diseases, Universitat de Barcelona, Universitat Ramon Llull, Institució Catalana de Recerca i Estudis Avançats, Spanish Biomedical Research Centre in Physiopathology of Obesity and Nutrition, Municipal Institute for Medical Research, Hospital del Mar Research Institute
Language: English
Field: Medicine
Domain: Health Sciences
Open Access status: green
OpenAlex ID: W2791541398