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Life Threatening Condition in Infants Linked to Genetic Deficiency

Life Threatening Condition in Infants Linked to Genetic Deficiency

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  • Necrotizing enterocolitis linked to mitochondrial deficiency in a new study
  • This serious condition is found in premature babies born before 36 weeks of gestation and requires early aggressive treatment for survival.
  • The study will aid in early detection of the condition, either during pregnancy or soon after delivery

A life threatening condition seen among infants, called necrotizing enterocolitis could have a genetic basis, according to researchers from Rutgers University. The scientists found that the condition that occurs in babies who are born before 36 weeks is associated with a disruption of mitochondrial metabolism.

Necrotizing Enterocolitis

  • One of the leading causes of mortality and morbidity in premature babies.
  • Found in 1-5% of neonatal intensive care admissions.
  • 5 to 10% of very low birth weight neonates
  • It was believed to occur due to ischemic injury or gut microflora
  • It is found to be fatal in nearly 30% of cases
An assistant professor at Rutgers University's Department of Genetics DrMichael Verzi who is also the lead author of the study said "At this time we think the discovery that mitochondrial metabolism is a hallmark of mature intestinal development may provide a new way to screen and diagnose NEC before children are born, or at the time of their birth. Early detection of NEC would give doctors a chance to head off the disease before it's too late."



This condition is a serious condition with aggressive treatment necessary during the early stages of the condition to help the baby recover. In many instances the condition is fatal, therefore early detection of this condition is imperative for the right treatment.

This condition is treated using IV antibiotics and surgery aggressively. The possible complications of this condition include:
  • Perforations in the intestine
  • Sepsis
  • Short bowel syndrome
  • Intestinal stricture
  • Liver problems
  • Peritonitis
Mitochondrial Mutations

The mitochondria is called the powerhouse of the cell and the genetic material present in the mitochondria are inherited solely from the mother. This is because the mitochondria is present in the fluid or the cytoplasm surrounding the nucleus in the egg while the sperm leaves its cell and penetrates the nucleus of the egg.

The researchers in the study found that necrotizing enterocolitis was due to mitochondrial deficiencies that did not let the intestines mature fully during pregnancy. This can be used to detect the condition during pregnancy or soon after delivery so that effective treatment and support may be provided as soon as possible.

DrVerzi added "Without this metabolic process, the intestine cannot fully mature. If children are born before their intestine is fully developed, it can lead to severe inflammation that leads to tissue death.He further added "This shift in metabolism during intestinal development has never been recognized as crucial for intestinal growth to take place. We think that the deficiencies in this important mitochondrial function serve not only as a cause for NEC but also could become a marker to help identify babies at risk."

Source: Medindia

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