Scientists from the Center for Cancer Biology (CCB) based at the University of South Australia (UniSA) and SA Pathology.
The findings are published today in the journal Science Translation Medicine.
Professor Natasha Harvey, Director of CCB, said a genetic study of six families affected by stillbirth or lymphedema showed a link between a gene encoding a mutated protein called MDFIC and fluid accumulation in vital organs and tissues.
This demonstrated that MFDIC is important for controlling the growth and development of lymphatic vessels in the fetus for the first time.
The Center for Cancer Biology collaborated with scientists and clinical teams from the Hospital for Women and Children, the University of Adelaide, Belgium, Germany, the United States and Iran to make the breakthrough.
“The lymphatic system is a network of vessels (pipes) and nodes (filters and control centers) that are important for maintaining fluid balance in our tissues and transporting white blood cells. infection-fighting bridges throughout our body” Professor Harvey said.
“We determined that MDFIC controls cell migration, an early critical event in lymphatic valve formation. The genetic variations we found in our study for found an important, previously unrecognized, role for MDFIC in the lymphatic system.”
“If the lymph valves don’t form properly, lymph fluid builds up in vital organs like the heart and lungs, causing serious breathing problems that can lead to stillbirth or chronic illness. .”
An SA Pathology team led by Professor Hamish Scott initially found a genetic link in an Australian family. Their international colleagues in Belgium, Germany and the US reported variants in the same gene, MDFIC, in several patients with the same lymphatic disorder. Professor Harvey said the disorder, known as central conduction lymphatic anomaly (CCLA), is one of a group of serious lymphatic disorders and can lead to stillbirth or serious chronic illness in babies. I am affected.
There are few effective treatments currently available, but with continued identification of the genetic causes of CCLA, Professor Harvey said the next step is to develop new therapeutic drugs to combat the disease.
“There are existing drugs that can be used to treat these disorders, but we need to make sure that the signaling pathways treated by those drugs are the same as those affected in the patient.” ours.
“This project is about the power of collaboration at the local, national and international levels, so that’s really important. Science is done in teams and we have great research teams. in Adelaide at the Center for Cancer Biology. Our doctoral students and postdoctoral fellows have been integral to this work. They have really pushed it forward and we are delighted to be here. working with such a talented group of people.”