MLASA syndrome
Evidence-based neurology checklist on mlasa syndrome: Genetic mutations This is an oxidative phosphorylation disorder It is caused by mutations in the PUS1, YARS2, and ATP6 genes The transmission is autosomal recessive The mutation impairs tRNA pseudouridylation Neurological features Ophthalmic…
Genetic mutations
- This is an oxidative phosphorylation disorder
- It is caused by mutations in the PUS1, YARS2, and ATP6 genes
- The transmission is autosomal recessive
- The mutation impairs tRNA pseudouridylation
Neurological features
Ophthalmic features
Skeletal features
Systemic features
Muscle biopsy: features
Bone marrow biopsy: features
Treatment
Acronym
References
References
- Patton JR, Bykhovskaya Y, Mengesha E, Bertolotto C, Fischel-Ghodsian N. Mitochondrial myopathy and sideroblastic anemia (MLASA): missense mutation in the pseudouridine synthase 1 (PUS1) gene is associated with the loss of tRNA pseudouridylation. J Biol Chem 2005; 280:19823-19828.
- Fernandez-Vizarra E, Berardinelli A, Valente L, Tiranti V, Zeviani M. Nonsense mutation in pseudouridylate synthase 1 (PUS1) in two brothers affected by myopathy, lactic acidosis and sideroblastic anaemia (MLASA). J Med Genet 2007; 44:173-180.
- Shahni R, Wedatilake Y, Cleary MA, Lindley KJ, Sibson KR, Rahman S. A distinct mitochondrial myopathy, lactic acidosis and sideroblastic anemia (MLASA) phenotype associates with YARS2 mutations. Am J Med Genet A 2013; 161A:2334-2338.
- Riley LG, Cooper S, Hickey P, et al. Mutation of the mitochondrial tyrosyl-tRNA synthetase gene, YARS2, causes myopathy, lactic acidosis, and sideroblastic anemia-MLASA syndrome. Am J Hum Genet 2010; 87:52-59.
- Burrage LC, Tang S, Wang J, et al. Mitochondrial myopathy, lactic acidosis, and sideroblastic anemia (MLASA) plus associated with a novel de novo mutation (m.8969G>A) in the mitochondrial encoded ATP6 gene. Mol Genet Metab 2014; 113:207-212.
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