Rutgers biologists find potential cause for fatal infant condition
University researchers may have found a connection between a person's mitochondrial regulation and the development of necrotizing enterocolitis (NEC), a potentially fatal condition which affects premature infants.
Rutgers scientists have published research in the journal Development, which provides evidence showing that a disruption of a biological process known as mitochondrial metabolism could potentially be linked to NEC.
NEC is the most common life-threatening gastrointestinal condition plaguing neonatal intensive care units, according to an article on Necrotizing Enterocolitis Risk.
The symptoms of NEC are abdominal swelling, blood in the stool, diarrhea, feeding problems, lack of energy, unstable body temperature, vomiting, unstable heart rate, unstable blood pressure and unstable breathing, according to Medline Plus, a government health information website.
One in every 2,000 to 4,000 births are affected by NEC in the NICU according to Children’s Hospital of Los Angeles. Up to 40 percent of infants who develop NEC die as a result of the disorder, through early and aggressive intervention could help improve the outcome, according to Medline Plus.
NEC is produced when the intestinal wall’s lining dies. The cause of this is currently unknown, according to Medline Plus. Premature infants are at risk because of an undeveloped immune response to low blood flow or bacteria.
“In humans, it's possible that certain people are genetically predisposed to have lower expression of these genes and are thus at risk for NEC,” said Michael Verzi, an assistant professor in the Department of Genetics and principal investigator of the published study.
The study discusses the role that metabolic regulation plays in the process of organogenesis, which is the origin of development of bodily organs.
“When we looked at the morphology of the intestines, we found that it was severely underdeveloped compared to our control,” said Manasa Srivillibhuthur, a School of Arts and Sciences senior, who contributed to the published report.
The morphology data told the researchers to check for specific genes to observe whether mutations increase or decrease compared to their control data.
“The lower expressed genes are the genes that normally contribute to mitochondrial metabolism,” Verzi said.
The study used control genes, and the researchers noticed that the gene expressions of a patient with NEC were lower than control groups of people without the disease.
Testing for NEC currently involves an abdominal X-ray, stool for occult blood test, complete blood count, Electrolyte test, blood gases and other blood tests, according to Medline Plus.
The study provides information that could potentially allow for test screenings prior to a baby’s birth to see if there is a risk of NEC, Srivillibhuthur said.
“We hypothesized that the villus structures in the intestine need a substantial amount of energy to grow and lengthen,” Srivillibhuthur said.
The lack of energy produced due to a disruption of mitochondrial metabolism could create problems for intestinal development, Srivillibhuthur said.
“We used the mice to test the idea that the mitochondrial metabolism was important for the final stages of intestinal development," Verzi said.
Babies at higher risk for NEC are premature infants, infants fed baby formula instead of human milk, infants in nurseries where an outbreak has occurred, infants who have received blood transfusions or infants that have had serious illnesses, according to Medline Plus.
As part of her senior thesis project, Srivillibhuthur is studying whether a specific transcription factor that impacts mitochondrial function can also impact the development of NEC. If so, this would prove a solid link between mitochondrial regulation and NEC.
Hernan Guarderas is a School of Arts and Sciences senior, majoring in journalism and media studies. He is a contributing writer for The Daily Targum. See more on Twitter @hguarderas93.