Researchers get down to the molecules of disease occurrence

By Max Martin, Special to Western News. A breakthrough genetic discovery from researchers at the Schulich School of Medicine & Dentistry is unlocking new clues about why some individuals experience early onset of neurodegenerative diseases. A recent study led by the O'Donoghue Lab focused on mistakes that occur during the translation of gene products into proteins, allowing researchers to better understand genetic factors that affect disease. Patrick O'Donoghue, Canada Research Chair in chemical biology, and his team examined mutations in transfer RNAs (tRNA), molecules essential for reading genetic blueprints that form the building blocks of key proteins in the body. In a major leap forward for the field of research, the lab found in a previous study that the average human is born with 60-80 tRNA variants in their genetic makeup - previously, scientists around the world believed only one or two tRNA mutations existed in humans. When mutations or variants are present in tRNAs, blueprints are misread, triggering errors in protein production in cells. Those errors, or mistranslations, show links to disease.