{"database":"biostudies-literature","file_versions":[],"scores":null,"additional":{"omics_type":["Unknown"],"volume":["48(1)"],"submitter":["Villafan-Bernal JR"],"pubmed_abstract":["Myopathy, Lactic Acidosis, and Sideroblastic Anemia type 2 (MLASA2) is a rare mitochondrial disorder caused by pathogenic variants (PVs) in the <i>YARS2</i> gene (which encodes the Mt-TyrRS protein. We performed a comprehensive clinical-molecular synthesis by integrating a systematic review and meta-analysis of all published MLASA2 cases with survival modeling and three-dimensional structural mapping. Across the aggregated cohort, anemia (88.6%), sideroblastic phenotype (85.7%), and lactic acidosis (82.9%) were the most prevalent phenotypes. Fifteen PVs were identified, dominated by p.(Phe52Leu) (29.4%). Survival estimates were 94.1% at 10 years, 70.7% at 30 years, and 42.4% at 50 years; cardiomyopathy and diagnosis before age 10 were associated with decreased survival. We generated the fi"],"journal":["Current issues in molecular biology"],"pagination":["95"],"full_dataset_link":["https://www.ebi.ac.uk/biostudies/studies/S-EPMC12839713"],"repository":["biostudies-literature"],"pubmed_title":["Correlation of MLASA2 Clinical Phenotype and Survival with Mt-TyrRS Protein Damage: Linking Systematic Review, Meta-Analysis and 3D Hotspot Mapping."],"pmcid":["PMC12839713"],"pubmed_authors":["Garcia-Ortiz H","Contreras-Cubas C","Carnevale A","Villafan-Bernal JR","Orozco L","Guerrero-Contreras I","Frias-Cabrera JL","Centeno-Cruz F","Martinez-Hernandez A","Barajas-Olmos F","Hernandez JR","Morales Rivera MI"],"additional_accession":[]},"is_claimable":false,"name":"Correlation of MLASA2 Clinical Phenotype and Survival with Mt-TyrRS Protein Damage: Linking Systematic Review, Meta-Analysis and 3D Hotspot Mapping.","description":"Myopathy, Lactic Acidosis, and Sideroblastic Anemia type 2 (MLASA2) is a rare mitochondrial disorder caused by pathogenic variants (PVs) in the <i>YARS2</i> gene (which encodes the Mt-TyrRS protein. We performed a comprehensive clinical-molecular synthesis by integrating a systematic review and meta-analysis of all published MLASA2 cases with survival modeling and three-dimensional structural mapping. Across the aggregated cohort, anemia (88.6%), sideroblastic phenotype (85.7%), and lactic acidosis (82.9%) were the most prevalent phenotypes. Fifteen PVs were identified, dominated by p.(Phe52Leu) (29.4%). Survival estimates were 94.1% at 10 years, 70.7% at 30 years, and 42.4% at 50 years; cardiomyopathy and diagnosis before age 10 were associated with decreased survival. We generated the fi","dates":{"release":"2026-01-01T00:00:00Z","publication":"2026 Jan","modification":"2026-06-14T03:16:54.831Z","creation":"2026-06-14T03:09:18.357Z"},"accession":"S-EPMC12839713","cross_references":{"pubmed":["41614925"],"doi":["10.3390/cimb48010095"]}}