Pathogenic mutations in YARS2 are associated with mitochondrial dysfunction whose severity varies from individual to individual.[7] Some of those affected have heart and cardiovascular issues from infancy, and die young, while others instead experience sideroblastic anemia and mild muscle weakness in early adulthood.[7] This syndrome is called myopathy, lactic acidosis, and sideroblastic anemia-2 (MLASA2), and appears to follow an autosomal dominant inheritance pattern.[7] Unlike mutations in many other mitochondrial aminoacyl-tRNA synthetases, it rarely affects the brain and spinal cord.[8]
