MRPL50 encodes a component of the mitochondrial large ribosomal subunit involved in mitochondrial translation. Based on limited published evidence, MRPL50 is essential for assembling functional mitochondrial ribosomes and translating oxidative phosphorylation machinery subunits. A homozygous missense variant (p.Val112Asp) causes autosomal recessive syndromic premature ovarian insufficiency with sensorineural hearing loss, kidney and heart dysfunction 1. Patient fibroblasts showed MRPL50 protein loss, large subunit destabilization, and reduced mitochondrial complex I abundance 1. Drosophila studies confirmed mRpL50 knockdown impairs ovarian development 1.