Hadassah expert saves Yemenite babies by identifying deadly mutant gene

Dr. Orly Elpeleg discovered 10 mutant genes that cause fatal liver insufficiency in infants.

By JUDY SIEGEL-ITZKOVICH
elpeleg hadassah yemenite babie 248 88 (photo credit: )
elpeleg hadassah yemenite babie 248 88
(photo credit: )
A mutant gene believed to be carried by one in 40 Jews of Yemenite origin that is liable to cause fatal liver insufficiency in infants has been discovered by Prof. Orly Elpeleg, head of the pediatric metabolic disease unit at Hadassah University Medical Center in Jerusalem's Ein Kerem, and her findings have been used to save many children. The discovery was made from observation and testing of a handful of children one to six months old who were born at Schneider Children's Medical Center, Shaare Zedek Medical Center, Rambam Medical Center and some hospitals in France. All of them suffered from acute liver insufficiency, which is very unusual in newborns. The condition resulted in jaundice, clotting difficulties, serious hemorrhaging and loss of consciousness. Nothing could be done to help the patients except for supportive care because a liver transplant is very difficult at such a young age. Elpeleg - who has discovered 10 mutant genes that cause illness in children - started to investigate the phenomenon after being consulted by doctors in the hospitals who were treating such infants. Liver cell samples were taken from the children and showed that a specific biochemical problem was involved and it emerged that all of the infants were born to families of Yemenite origin. This pointed to a genetic problem, and their DNA samples were compared. Elpeleg found that all had a common section of DNA containing over 20 genes - but she targeted one of them that was involved in the biochemical problem in the liver. The anonymous testing of the genomes of healthy Jews of Yemenite origin enabled the pediatrician to know that the defective gene was found in 2.5 percent of that specific population. If two Jews of Yemenite origin who carry the defective gene marry, each of their children will have a 25% risk of being born with the defect. The normal gene metabolizes sulphur; those with the defective gene suffer from sulphur deficiency in the liver that will show up only during the first few months of life. Theoretically, says Elpeleg, if the babies can be given sulphur early in their lives, they could be saved. When this was done, most of the children with the defective gene were saved, and only a minority died. She also identified other defects in the same gene in a small number of patients who suffered from the same disease but were not of Yemenite origin.