Researchers reveal basis for debilitating hereditary disease

HOUSTON (Oct. 5, 2005) -- A research team led by scientists at The University of Texas Medical School at Houston has determined the structure of an enzyme that when defective causes an inherited disease that afflicts sufferers with severe abdominal pain, psychiatric symptoms, skin fragility, and light sensitivity.

"Unless prompt and appropriate treatment is given, hereditary coproporphyria can very quickly turn into a life-threatening medical emergency," said C. S. Raman, Ph.D., assistant professor in the Department of Biochemistry and Molecular Biology and senior author of a paper out this week in the Proceedings of the National Academy of Sciences.

Using x-ray crystallography, researchers have generated a three-dimensional image of the enzyme coproporphyrinogen oxidase (CPO) at the atomic level, (resolution of 1.58 angstroms). The enzyme participates in the sixth step of an eight-step pathway that generates heme an essential molecule that gives blood its distinctive red color and also helps hemoglobin in red blood cells transport oxygen to tissues.

The PNAS paper demonstrates for the first time the enzyme's atomic structure and how mutations in this enzyme specifically disrupt the heme pathway, causing hereditary coproporphyria. The authors review a series of CPO mutations and their effects on the structure and function of the enzyme.

"There will be no life without heme, so it is important to understand how this molecule is produced and utilized," Raman said. Hereditary coproporphyria is rare, affecting two in every million people, "but rare diseases give you major insights into extremely complex biological problems."

Porphyrias are disorders of enzymes in the heme synthesis pathway that reduce heme production and, more importantly, cause accumulation of porphyrins or their precursors, Raman explained. In the case of hereditary coproporphyria, inherited mutations in CPO result in accumulation of coproporphyrin

Contact: Scott Merville
University of Texas Health Science Center at Houston

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