Italians discover cause of Floating Harbor syndrome

(AGI) Rome, June 24 - Gene mutations are responsible for Floating Harbor syndrome, according to a study by researchers at Sapienza University in Rome. The disease is usually diagnosed in infancy and includes delayed bone development, altered craniofacial development, delayed language development, stunted growth and mental disabilities. The research, published in the Medical Genetics Journal, is based on studying the function and structure of chromatin, a nucleoprotein complex that wraps around DNA. Chromatin's dynamic organisation means it adapts to epigenetic changes by specific enzymes. Experiments have shown that mutations in protein coding genes needed for the correct structural and functional organisation of chromatin play a determining role in genetic disorders connected to the differentiation and development of the human species including craniofacial defects. Researchers analysed the functions of two human chromatin proteins called SRCAP and CFDP1. These proteins belong to a remodelled complex of chromatin called SRCAP. These studies were carried out in human cells as well as in the Drosophila melanogaster fruit fly, which has similar genes. It was shown that mutations in the SRCAP gene are responsible for the rare genetic syndrome Floating Harbor. Molecular analysis has revealed that mutations in the SRCAP gene cause the synthesis of a SRCAP protein that is shorter than usual. It is therefore possible to hypothesise that these reduced variations of the SRCAP protein are no longer able to carry out their normal chromatin remodelling function. (AGI). .