 Pseudouridine modifications are also implicated in human diseases such as mitochondrial myopathy and sideroblastic anemia (MLASA) and Dyskeratosis congenita.Dyskeratosis congentia and Hoyeraal-Hreidarsson are two rare inherited syndromes caused by mutations in DKC1, the gene encoding for the pseudouridine synthase dyskerin.Pseudouridines have been recognized as regulators of viral latency processes in human immunodeficiency virus (HIV) infections.