Transforming growth factors beta (TGF-β) are vital in embryonic development and the regulation of many fundamental cellular functions in the human body. By binding and activating specific receptors, they control various signaling pathways in a wide range of processes and, as such, are also involved in many pathomechanims leading to cancer, cardiovascular disease, fibrosis or other disorders. Their dual roles have made them the topic of intense scientific study and controversial discussions. TGF-β, for example, suppresses tumor development, but also promotes tumor progression.

International researchers, including a group from Dr. von Hauner Children’s Hospital at Munich, have now revealed that TGF-β1, a prototypic member of the TGF-β family, fulfils an essential and non-redundant function in the development and homeostasis of intestinal immunity and the central nervous system (CNS). In their study, they identified biallelic loss-of-function mutations in TGFB1 in three patients from two families presenting with severe infantile inflammatory bowel disease and CNS disease associated with epilepsy, brain atrophy and posterior leukoencephalopathy.

The results of the study have been published in Nature Genetics.