A collaborative research project involving the Indiana Biosciences Research Institute has led to the discovery of a new disease. The IBRI says the monogenic disease, known as DHPS Deficiency, can lead to neurodevelopmental delay and seizures.
The study was led by IBRI and the Columbia University Vagelos College of Physicians and Surgeons, and identified the first human mutations of deoxyhypusine synthase, or DHPS, gene. DHPS is an enzyme that is critical for the production of an amino acid called hypusine, which works in cells to create protein and is essential for life, according to the IBRI.
The study began in mid-2017 and found the DHPS mutation in five people, mostly children. The study was published this month in the American Journal of Human Genetics.
"This work is significant not only because it is the first description of a new monogenic disease, but as a result of the study’s publication, we’ll be able to find other affected individuals and families from around the world, as well as direct our research toward finding an effective treatment so that one day testing for DHPS Deficiency can be included when infants are screened for genetic diseases," said Teresa Mastracci, who leads the Regenerative Medicine and Metabolic Biology group in the IBRI Diabetes Center.
The research team also included scientists and medical professionals from the Indiana University School of Medicine, NYU Langone Health, GeneDx, University of Calgary, Duke University Medical Center, Ann & Robert H. Lurie Children’s Hospital of Chicago, Feinberg School of Medicine at Northwestern University and the National Institutes of Health (NIH).