February 14, 2018
Keio University School of Medicine
A research group led by Professor Hideyuki Okano and Associate Professor Jun Kohyama of the Department of Physiology, Keio University School of Medicine, has analyzed the function of CHD7, the causative gene for CHARGE syndrome, which manifests symptoms such as sensory organ disorders. They have revealed that CHD7 controls a group of genes that maintain the normal properties of neural progenitor cells in the human central nervous system.
CHARGE syndrome is a disease caused by mutations in the CHD7 gene, resulting in disorders of sensory organs such as the eyes and ears, as well as the heart. In a previous study, the research group used a disease model with patient-derived iPS cells to elucidate that the symptoms of CHARGE syndrome are caused by abnormalities in neural crest cells during the embryonic stage (as reported in a press release from the university's School of Medicine on November 28, 2017).
CHARGE syndrome is a hereditary disease with symptoms that develop during the embryonic stage, and in addition to sensory organ disorders, it can be accompanied by psychomotor developmental delays. Observing the process by which these disorders arise is difficult, which has hindered a detailed understanding of its pathology. In this study, the research group utilized iPS cells derived from CHARGE syndrome patients to closely observe neural progenitor cells during the embryonic stage. As a result, they discovered that the maintenance mechanism of neural progenitor cells is impaired in CHARGE syndrome. Furthermore, they also clarified the underlying molecular mechanism responsible for this.
This achievement helps to elucidate part of the cause of hereditary diseases in the embryonic stage and is expected to lead to the development of therapies to restore abnormalities associated with the central nervous system symptoms of CHARGE syndrome. Furthermore, by using neural progenitor cells to replicate the disease, this work is expected to significantly contribute to the advancement of regenerative medicine in this field.
This research was published in the online edition of the American scientific journal "Genes & Development" on February 9, 2018 (U.S. Eastern Time).
For the full press release, please see below.