MRPS22 mutation causes fatal neonatal lactic acidosis with brain and heart abnormalities

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• 作者：Fabian Baertling ; Tobias B. Haack ; Richard J. Rodenburg ; J?rg Schaper…
• 关键词：Mitochondrial ribosome ; Oxidative phosphorylation system ; Mitochondrial disease ; Lactic acidosis
• 刊名：neurogenetics
• 出版年：2015
• 出版时间：July 2015
• 年：2015
• 卷：16
• 期：3
• 页码：237-240
• 全文大小：368 KB
• 参考文献：1.Saada A, Shaag A, Arnon S, Dolfin T, Miller C, Fuchs-Telem D, Lombes A, Elpeleg O (2007) Antenatal mitochondrial disease caused by mitochondrial ribosomal protein (MRPS22) mutation. J Med Genet 44(12):784-86PubMed Central PubMed View Article
  2.Smits P, Saada A, Wortmann SB, Heister AJ, Brink M, Pfundt R, Miller C, Haas D, Hantschmann R, Rodenburg RJ, Smeitink JA, van den Heuvel LP (2011) Mutation in mitochondrial ribosomal protein MRPS22 leads to Cornelia de Lange-like phenotype, brain abnormalities and hypertrophic cardiomyopathy. Eur J Hum Genet 19(4):394-99PubMed Central PubMed View Article
  3.Janssen AJ, Trijbels FJ, Sengers RC, Smeitink JA, van den Heuvel LP, Wintjes LT, Stoltenborg-Hogenkamp BJ, Rodenburg RJ (2007) Spectrophotometric assay for complex I of the respiratory chain in tissue samples and cultured fibroblasts. Clin Chem 53(4):729-34PubMed View Article
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  9.Sugiana C, Pagliarini DJ, McKenzie M, Kirby DM, Salemi R, Abu-Amero KK, Dahl HH, Hutchison WM, Vascotto KA, Smith SM, Newbold RF, Christodoulou J, Calvo S, Mootha VK, Ryan MT, Thorburn DR (2008) Mutation of C20orf7 disrupts complex I assembly and causes lethal neonatal mitochondrial disease. Am J Hum Genet 83(4):468-78PubMed Central PubMed View Article
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• 作者单位：Fabian Baertling (1)
  Tobias B. Haack (2) (3)
  Richard J. Rodenburg (4)
  J?rg Schaper (5)
  Annette Seibt (1)
  Tim M. Strom (2) (3)
  Thomas Meitinger (2) (3) (7)
  Ertan Mayatepek (1)
  Berit Hadzik (1)
  Gündüz Selcan (6)
  Holger Prokisch (2) (3)
  Felix Distelmaier (1)
  
  1. Department of General Pediatrics, Neonatology and Pediatric Cardiology, University Children’s Hospital, Heinrich-Heine-University Duesseldorf, Moorenstr. 5, 40225, Duesseldorf, Germany
  2. Institute of Human Genetics, Technische Universit?t München, Trogerstr. 32, 81675, Munich, Germany
  3. Institute of Human Genetics, Helmholtz Zentrum München, Ingolst?dter Landstr. 1, 85764, Neuherberg, Germany
  4. Department of Pediatrics, Nijmegen Center for Mitochondrial Disorders, Radboud University Medical Center, PO Box 9101, 6500 HB, Nijmegen, The Netherlands
  5. Department of Diagnostic and Interventional Radiology, Heinrich-Heine-University Duesseldorf, Moorenstr. 5, 40225, Duesseldorf, Germany
  7. Munich Cluster for Systems Neurology (SyNergy), Munich, Germany
  6. Department of Pediatrics, Bethanien Hospital Moers, Bethanienstr. 21, 47441, Moers, Germany
  
• 刊物类别：Biomedical and Life Sciences
• 刊物主题：Biomedicine
  Neurosciences
  Human Genetics
  Molecular Medicine
  
• 出版者：Springer Berlin / Heidelberg
• ISSN：1364-6753

文摘

The mitochondrial ribosomes are required for the synthesis of mitochondrial DNA-encoded subunits of the oxidative phosphorylation (OXPHOS) system. Here, we present a neonate with fatal lactic acidosis and combined OXPHOS deficiency caused by a homozygous mutation in MRPS22, a gene encoding a mitochondrial ribosomal small subunit protein. Brain imaging revealed several structural abnormalities, including agenesis of the corpus callosum, multiple periventricular cysts, and suspected intracerebral calcifications. Moreover, echocardiography demonstrated atrial and ventricular septal defects as well as a coronary artery fistula. Our report expands the clinical spectrum of this rare mitochondrial disorder and confirms the severe clinical phenotype associated with this defect.