A major breakthrough at Bnai Zion Medical Center: A research team led by Dr. Adel Shalata, head of the Genetics Department, has identified a new gene—TIMM29—as the cause of Sengers syndrome, a rare and fatal genetic condition in infants. The disease affects mitochondrial function, leading to muscle weakness, heart failure, cataracts, and early death.
The comprehensive study, conducted in collaboration with researchers in Israel and abroad, showed that damage to the gene disrupts cellular energy production. A fruit fly model demonstrated symptoms similar to those seen in affected infants.
“This research is a significant step toward preventing the disease and improving genetic diagnosis in the community,” said Dr. Shalata. “Our next goal is to expand genetic screening.”
Hope for the Future
To date, 17 cases of infant deaths from the disease have been recorded in Israel. The discovery will allow carrier testing among parents and the prevention of affected births through advanced fertility methods. Bnai Zion expressed pride in the breakthrough, which could save lives.
