ResearchPUBMEDMar 26
A systematic analysis of mitochondrial aminoacyl tRNA synthetase variants in a rare disease cohort.
Scientists studied a large group of patients in Europe with rare diseases caused by problems in mitochondrial aminoacyl-tRNA synthetases—proteins that help mitochondria (the energy centers of cells) make other proteins. They found 38 patients with 63 different genetic changes and created a method to match patients' symptoms with similar cases in medical literature, which helps doctors figure out what disease a patient actually has.
WHY IT MATTERSIf you or your child has unexplained seizures, developmental delays, or neurological symptoms, this research provides doctors with a new tool to identify whether mitochondrial aminoacyl-tRNA synthetase variants are the cause—potentially leading to a diagnosis after years of testing.