Inherited diseases of metabolism and immunity have more in common than previously recognized, according to a new study published in the journal . The findings point to a new set of metabolic genes that are important for the function of immune system T cells, and they offer insights that could improve care for patients with these disorders. The study examined that cause inborn errors of metabolism (disorders of the processes that use to convert food to energy) and inborn errors of immunity (disorders that affect immune system function).
These rare and complex diseases are not fully understood. "There had previously been only a small number of genes that were on both lists of diseases, but we found that many more have overlap," said Andrew Patterson, Ph.D.
, who led the study as a postdoctoral fellow working with Jeffrey Rathmell, Ph.D., at Vanderbilt University Medical Center.
"Our study showed that a large number of genes associated with inborn errors of metabolism can also potentially affect T cell function when they are mutated." The findings suggest that patients with an inborn error of metabolism may also have immune defects that could impact their care, and conversely that metabolic defects may contribute to symptoms in patients with inborn errors of immunity. "There's a lot more that will have to be learned, but these connections might point to different therapies," said Rathmell, Cornelius Vanderbilt Professor of Immunobiology and director of the Vanderbilt Center for I.