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Biallelic Mutations in MRPS34 Lead to Instability of the Small Mitoribosomal Subunit and Leigh Syndrome

2018; Elsevier BV; Volume: 102; Issue: 4 Linguagem: Inglês

10.1016/j.ajhg.2018.03.015

1537-6605

Nicole J. Lake, Bryn D. Webb, David A. Stroud, Tara R. Richman, Benedetta Ruzzenente, Alison G. Compton, Hayley S. Mountford, Juliette Pulman, Coralie Zangarelli, Marlène Rio, Nathalie Boddaert, Zahra Assouline, Mingma D. Sherpa, Eric E. Schadt, Sander M. Houten, James R. Byrnes, Elizabeth M. McCormick, Zarazuela Zolkipli‐Cunningham, Katrina Haude, Zhancheng Zhang, Kyle Retterer, Renkui Bai, Sarah E. Calvo, Vamsi K. Mootha, John Christodoulou, Agnès Rötig, Aleksandra Filipovska, Ingrid Cristian, Marni J. Falk, Metodi D. Metodiev, David R. Thorburn,

RNA modifications and cancer

(The American Journal of Human Genetics 101, 239–254; August 3, 2017) In the originally published version of this article, the surname of author Nathalie Boddaert was unfortunately misspelled as “Bodaert.” The error has now been corrected online, and the authors apologize for the oversight. Biallelic Mutations in MRPS34 Lead to Instability of the Small Mitoribosomal Subunit and Leigh SyndromeLake et al.The American Journal of Human GeneticsAugust 03, 2017In BriefThe synthesis of all 13 mitochondrial DNA (mtDNA)-encoded protein subunits of the human oxidative phosphorylation (OXPHOS) system is carried out by mitochondrial ribosomes (mitoribosomes). Defects in the stability of mitoribosomal proteins or mitoribosome assembly impair mitochondrial protein translation, causing combined OXPHOS enzyme deficiency and clinical disease. Here we report four autosomal-recessive pathogenic mutations in the gene encoding the small mitoribosomal subunit protein, MRPS34, in six subjects from four unrelated families with Leigh syndrome and combined OXPHOS defects. Full-Text PDF Open Archive