2019
Leigh syndrome caused by mutations in MTFMT is associated with a better prognosis
Hayhurst H, de Coo I, Piekutowska‐Abramczuk D, Alston C, Sharma S, Thompson K, Rius R, He L, Hopton S, Ploski R, Ciara E, Lake N, Compton A, Delatycki M, Verrips A, Bonnen P, Jones S, Morris A, Shakespeare D, Christodoulou J, Wesol‐Kucharska D, Rokicki D, Smeets H, Pronicka E, Thorburn D, Gorman G, McFarland R, Taylor R, Ng Y. Leigh syndrome caused by mutations in MTFMT is associated with a better prognosis. Annals Of Clinical And Translational Neurology 2019, 6: 515-524. PMID: 30911575, PMCID: PMC6414492, DOI: 10.1002/acn3.725.Peer-Reviewed Original ResearchConceptsPathogenic variantsLeigh syndromeSubcortical white matter abnormalitiesNew casesFrequent initial manifestationLast clinical reviewRetrospective cohort studyBasal ganglia changesWhite matter abnormalitiesRespiratory chain deficiencyBi-allelic pathogenic variantsMitochondrial methionyl-tRNA formyltransferaseMolecular genetic findingsMilder clinical phenotypeInitial manifestationBrainstem lesionsCohort studyMedian ageBetter prognosisChain deficiencyMotor symptomsClinical reviewDisease progressionMultiple respiratory chain deficiencyMuscle biopsy
2017
Biallelic Mutations in MRPS34 Lead to Instability of the Small Mitoribosomal Subunit and Leigh Syndrome
Lake N, Webb B, Stroud D, Richman T, Ruzzenente B, Compton A, Mountford H, Pulman J, Zangarelli C, Rio M, Boddaert N, Assouline Z, Sherpa M, Schadt E, Houten S, Byrnes J, McCormick E, Zolkipli-Cunningham Z, Haude K, Zhang Z, Retterer K, Bai R, Calvo S, Mootha V, Christodoulou J, Rötig A, Filipovska A, Cristian I, Falk M, Metodiev M, Thorburn D. Biallelic Mutations in MRPS34 Lead to Instability of the Small Mitoribosomal Subunit and Leigh Syndrome. American Journal Of Human Genetics 2017, 101: 239-254. PMID: 28777931, PMCID: PMC5544391, DOI: 10.1016/j.ajhg.2017.07.005.Peer-Reviewed Original ResearchConceptsSmall mitoribosomal subunitMitoribosomal subunitHuman oxidative phosphorylation (OXPHOS) systemMitochondrial protein translationOxidative phosphorylation systemMitochondrial translation defectQuantitative proteomic analysisSpecific cellular pathwaysLeigh syndromeLentiviral-mediated expressionMitoribosomal proteinsMitochondrial ribosomesOXPHOS subunitsMitochondrial translationOXPHOS defectsProtein translationMitochondrial DNATranslation defectsUnrelated familiesProteomic analysisPhosphorylation systemQuantitative proteomicsCellular pathwaysProtein subunitsSubunit proteins