In a new study published on August 3, 2017 in The American Journal of Human Genetics, a multinational team of researchers describes, for the first time, the biological basis of a severe neurological disorder in children. The extremely rare disorder is characterized by developmental regression and neurodegeneration. At first, the children lead normal lives and seem identical to their age-matched peers. However, beginning at around 3 to 6 years of age, the children present with neurological deterioration, gradually losing motor, cognitive, and speech functions. Although the condition progresses slowly, most patients are completely dependent on their caretakers by 15-20 years of age. Researchers from the Hadassah Medical Center and the Hebrew University of Jerusalem’s Faculty of Medicine, working with colleagues from the Pennsylvania State University College of Medicine and a multinational research team, have now identified and studied seven children — from Canada, France, Israel, Russia, and the United States — who suffer from the disorder. The researchers found in all patients the same spontaneously occurring, non-inherited genetic change in a gene (named “UBTF”) responsible for ribosomal RNA formation. Because of this small change, the patients’ cells are flooded with ribosomal RNA and are poisoned by it. (Ribosomes are responsible for the translation and production of cell proteins; themselves, they are made up of ribosomal proteins and of ribosomal RNA in a precise ratio).
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