Study illuminates birth defects caused by copper deficiency

A new study reveals the timing of developmental events that critically depend on copper. While copper deficiency is rare in humans, the findings suggest that suboptimal copper metabolism might contribute to birth defects, according to the researchers.

The discovery in zebrafish could lead to treatments for children with Menkes disease, the researchers reported in the August Cell Metabolism, published by Cell Press. The rare genetic disorder, which is characterized by the inability to acquire copper before birth, affects about one in 300,000 people. Most children with Menkes die within the first decade of life.

The transparent and rapid development of zebrafish embryos permit detailed characterization of deficiencies from the moment of fertilization. The study method could ultimately unravel the interplay between genes and nutrition that can lead to many kinds of developmental abnormalities--advances that might one day allow for personalized prenatal care designed to reduce the risk of birth defects, said pediatrician Jonathan Gitlin of Washington University School of Medicine in St. Louis and the Children's Discovery Institute.

The research group found a role for copper in the formation of the notochord, a structure that, during the process of development in humans and other higher vertebrates, gives rise to the spine. The notochord also plays an important role in determining the developmental fate of other tissues.

"Our observations that copper is essential for notochord structure raise the intriguing possibility that suboptimal copper availability due either to dietary factors or genetic variation during the period of notochord formation or subsequent bone formation may contribute to structural birth defects such as congenital scoliosis" (or curvature of the spine), Gitlin said.

Copper--a nutrient found in foods including lobster, peanuts, and chocolate--is a critical component of several enzymes responsible for

Contact: Heidi Hardman
Cell Press

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