This report describes myopathy, lactic acidosis, and sideroblastic anemia 2 (MLASA2), which is a subtype of MLASA. The human gene implicated in this disease is YARS2, a nuclear gene that encodes mitochondrial tyrosyl-tRNA synthetase. There is a single fly ortholog, TyrRS-m, for which RNAi-targeting constructs, natural variants, and an allele caused by insertional mutagenesis have been isolated or generated.
The human YARS2 gene has not been introduced into flies.
Work in flies has characterized phenotypes generated due to incompatibility of mitochondrially-encoded tyrosine tRNA (from D. simulans, introduced into D. melanogaster) and nuclear-encoded mitochondrial tyrosyl-tRNA synthetase (Dmel\TyrRS-m).
[updated Aug. 2016 by FlyBase; FBrf0222196]
[MYOPATHY, LACTIC ACIDOSIS, AND SIDEROBLASTIC ANEMIA 2; MLASA2](https://omim.org/entry/613561)
[TYROSYL-tRNA SYNTHETASE 2; YARS2](https://omim.org/entry/610957)
A rare oxidative phosphorylation disorder specific to skeletal muscle and bone marrow. Affected individuals manifest sideroblastic anemia, progressive lethargy, muscle weakness, and exercise intolerance associated with persistent lactic acidemia. [from Genetics Home Reference, YARS2; 2016.08.27]
Myopathy, lactic acidosis, and sideroblastic anemia-2 is an autosomal recessive disorder of the mitochondrial respiratory chain. The disorder shows marked phenotypic variability: some patients have a severe multisystem disorder from infancy, including cardiomyopathy and respiratory insufficiency resulting in early death, whereas others present in the second or third decade of life with sideroblastic anemia and mild muscle weakness (summary by Riley et al., 2013; pubmed:24344687). [from MIM:613561]
Myopathy, lactic acidosis, and sideroblastic anemia-2 (MLASA2) is caused by homozygous mutation in the YARS2 gene.
YARS2 encodes mitochondrial tyrosyl-tRNA synthetase. [rom MIM:610957; 2016.08.26]
One to one: 1 human to 1 Drosophila.
:High-scoring ortholog of human gene YARS2 (1 Drosophila to 1 human). Dmel\TyrRS-m shares 47% identity and 65% similarity with the human gene.
