Erratum: LYRM7 mutations cause a multifocal cavitating leukoencephalopathy with distinct MRI appearance (Brain (2016) 139 (782-794) DOI: 10.1093/brain/awv392);LYRM7 mutations cause a multifocal cavitating leukoencephalopathy with distinct MRI appearance

Brain

Volumn 139, Issue 3, 2016, Pages 782-794

  Dallabona, Cristina ^a   Abbink, Truus E M ^b   Carrozzo, Rosalba ^c   Torraco, Alessandra ^c   Legati, Andrea ^d   Van Berkel, Carola G M ^b   Niceta, Marcello ^c   Langella, Tiziana ^d   Verrigni, Daniela ^c   Rizza, Teresa ^c   Diodato, Daria ^c   Piemonte, Fiorella ^c   Lamantea, Eleonora ^d   Fang, Mingyan ^e   Zhang, Jianguo ^e   Martinelli, Diego ^c   Bevivino, Elsa ^c   Dionisi Vici, Carlo ^c   Vanderver, Adeline ^f   Philip, Sunny G ^g   Kurian, Manju A ^h,i   Verma, Ishwar C ^j   Bijarnia Mahay, Sunita ^j   Jacinto, Sandra ^k   Furtado, Fatima ^l   Accorsi, Patrizia ^m   Ardissone, Anna ^d   Moroni, Isabella ^d   Ferrero, Ileana ^a   Tartaglia, Marco ^c   Goffrini, Paola ^a   Ghezzi, Daniele ^d   Van Der Knaap, Marjo S ^b   Bertini, Enrico ^c   more..

^a UNIVERSITY OF PARMA   (Italy)

^b VU UNIVERSITY AMSTERDAM   (Netherlands)

^c BAMBINO GESÙ CHILDREN S HOSPITAL   (Italy)

^d DEPARTMENT OF NEUROSURGERY   (Italy)

^e BGI SHENZHEN   (China)

^f CHILDREN'S NATIONAL MEDICAL CENTER   (United States)

^g BIRMINGHAM CHILDREN S HOSPITAL   (United Kingdom)

^h GREAT ORMOND STREET HOSPITAL   (United Kingdom)

ⁱ UNIVERSITY COLLEGE LONDON   (United Kingdom)

^j SIR GANGA RAM HOSPITAL   (India)

^k HOSPITAL DONA ESTEFÂNIA   (Portugal)

^l José Joaquim Fernandes Hospital da Unidade Local de Saúde do Baixo Alentejo   (Portugal)

^m SPEDALI CIVILI   (Italy)

more..

Author keywords

Cavitations; Complex III; Leukoencephalopathy; LYRM7; Mitochondria

Indexed keywords

LACTIC ACID; LYR MOTIF CONTAINING PROTEIN 7; MITOCHONDRIAL PROTEIN; UBIQUINOL CYTOCHROME C REDUCTASE; UNCLASSIFIED DRUG; CHAPERONE; LYRM7 PROTEIN, HUMAN;

APNEA; ARTICLE; BRAIN DISEASE; CHILD; CHILDHOOD; CLINICAL ARTICLE; CLINICAL FEATURE; COHORT ANALYSIS; COMA; COMPLEX III DEFICIENCY; CONTROLLED STUDY; CRANIAL NERVE PARALYSIS; DEATH; DEVELOPMENTAL DISORDER; DISABILITY; DYSPHAGIA; FACIAL WEAKNESS; FAILURE TO THRIVE; FAMILY; FIBROBLAST; GENE; GENE MUTATION; GENE SEQUENCE; GENETIC ANALYSIS; HEART ARREST; HOMOZYGOSITY; HUMAN; HUMAN CELL; HUMAN TISSUE; INFANCY; INFANT; INFECTION; IRRITABILITY; LACTIC ACIDOSIS; LEUKOENCEPHALOPATHY; LYRM7 GENE; MALE; MISSENSE MUTATION; MOTOR DEVELOPMENT; MOTOR DYSFUNCTION; MUSCLE HYPOTONIA; NEUROIMAGING; NEUROLOGIC DISEASE; NUCLEAR MAGNETIC RESONANCE IMAGING; NYSTAGMUS; OPHTHALMOPLEGIA; PATHOGENICITY; PERIVENTRICULAR WHITE MATTER; PES EQUINUS; PRESCHOOL CHILD; PRIORITY JOURNAL; PROTEIN EXPRESSION; PSYCHOMOTOR DISORDER; QUADRIPLEGIA; RNA SPLICING; SIBLING; SPASTICITY; STUPOR; VOMITING; WHITE MATTER; ADOLESCENT; AMINO ACID SEQUENCE; CASE REPORT; FEMALE; GENETICS; LEUKOENCEPHALOPATHY, PROGRESSIVE MULTIFOCAL; MOLECULAR GENETICS; MUTATION; PROCEDURES; SACCHAROMYCES CEREVISIAE;

ADOLESCENT; AMINO ACID SEQUENCE; CHILD; CHILD, PRESCHOOL; FEMALE; HUMANS; INFANT; LEUKOENCEPHALOPATHY, PROGRESSIVE MULTIFOCAL; MAGNETIC RESONANCE IMAGING; MALE; MITOCHONDRIAL PROTEINS; MOLECULAR CHAPERONES; MOLECULAR SEQUENCE DATA; MUTATION; SACCHAROMYCES CEREVISIAE;

EID: 84964649248     PISSN: 00068950     EISSN: 14602156     Source Type: Journal    
DOI: 10.1093/brain/awy194     Document Type: Erratum

References (36)

1. Ardissone A, Granata T, Legati A, Diodato D, Melchionda L, Lamantea E, et al. Mitochondrial complex III deficiency caused by TTC19 defects: Report of a Novel Mutation and Review of Literature. JIMD Rep 2015;22:115-20.
2. Atkinson A, Khalimonchuk O, Smith P, Sabic H, Eide D, Winge DR. Mzm1 influences a labile pool of mitochondrial zinc important for respiratory function. J Biol Chem 2010;285:19450-9.
3. Atkinson A, Smith P, Fox JL, Cui TZ, Khalimonchuk O, Winge DR. The LYR protein Mzm1 functions in the insertion of the Rieske Fe/S protein in yeast mitochondria. Mol Cell Biol 2011;31:3988-96.
4. Barel O, Shorer Z, Flusser H, Ofir R, Narkis G, Finer G, et al. Mitochondrial complex III deficiency associated with a homozygous mutation in UQCRQ. Am J Hum Genet 2008;82:1211-16.
5. Barrientos A, Fontanesi F, Díaz F. Evaluation of the mitochondrial respiratory chain and oxidative phosphorylation system using polarography and spectrophotometric enzyme assays. Curr Protoc Hum Genet 2009;19:Unit19.3.
6. Baruffini E, Ferrero I, Foury F. In vivo analysis of mtDNA replication defects in yeast. Methods 2010;51:426-36.
7. Calvo SE, Compton AG, Hershman SG, Lim SC, Lieber DS, Tucker EJ, et al. Molecular diagnosis of infantile mitochondrial disease with targeted next-generation sequencing. Sci Transl Med 2012;4:118ra10.
8. Cui TZ, Smith PM, Fox JL, Khalimonchuk O, Winge DR. Late-stage maturation of the Rieske Fe/S protein: Mzm1 stabilizes Rip1 but does not facilitate its translocation by the AAA ATPase Bcs1. Mol Cell Biol 2012;32:4400-9.
9. de Lonlay P, Valnot I, Barrientos A, Gorbatyuk M, Tzagoloff A, Taanman JW, et al. A mutant mitochondrial respiratory chain assembly protein causes complex III deficiency in patients with tubulopathy, encephalopathy and liver failure. Nat Genet 2001;29:57-60.
10. De Meirleir L, Seneca S, Damis E, Sepulchre B, Hoorens A, Gerlo E, et al. Clinical and diagnostic characteristics of complex III deficiency due to mutations in the BCS1L gene. Am J Med Genet A 2003;121:126-31.
11. Elstner M, Andreoli C, Ahting U, Tetko I, Klopstock T, Meitinger T, et al. MitoP2: an integrative tool for the analysis of the mitochondrial proteome. Mol Biotechnol 2008;40:306-15.
12. Fernández-Vizarra E, Zeviani M. Nuclear gene mutations as the cause of mitochondrial complex III deficiency. Front Genet 2015;6:134.
13. Gaignard P, Menezes M, Schiff M, Bayot A, Rak M, Ogier de Baulny H, et al. Mutations in CYC1, encoding cytochrome c1 subunit of respiratory chain complex III, cause insulin-responsive hyperglycemia. Am J Hum Genet 2013;93:384-9.
14. Ghezzi D, Arzuffi P, Zordan M, Da Re C, Lamperti C, Benna C, et al. Mutations in TTC19 cause mitochondrial complex III deficiency and neurological impairment in humans and flies. Nat Genet 2011;43:259-63.
15. Goffrini P, Ercolino T, Panizza E, Giachè V, Cavone L, Chiarugi A, et al. Functional study in a yeast model of a novel succinate dehydrogenase subunit B gene germline missense mutation (C191Y) diagnosed in a patient affected by a glomus tumor. Hum Mol Genet 2009;18:1860-8.
16. Graham LA, Brandt U, Trumpower BL. Protease maturation of the Rieske iron-sulphur protein after its insertion into the mitochondrial cytochrome bc1 complex of Saccharomyces cerevisiae. Biochem Soc Trans 1994;22:188-91.
17. Haut S, Brivet M, Touati G, Rustin P, Lebon S, Garcia-Cazorla A, et al. A deletion in the human QP-C gene causes a complex III deficiency resulting in hypoglycaemia and lactic acidosis. Hum Genet 2003;113:118-22.
18. Invernizzi F, Tigano M, Dallabona C, Donnini C, Ferrero I, Cremonte M, et al. A homozygous mutation in LYRM7/MZM1L associated with early onset encephalopathy, lactic acidosis, and severe reduction of mitochondrial complex III activity. Hum Mutat 2013;34:1619-22.
19. Iwata S, Lee JW, Okada K, Lee JK, Iwata M, Rasmussen B, et al. Complete structure of the 11-subunit bovine mitochondrial cytochrome bc1 complex. Science 1998;281:64-71.
20. Kevelam SH, Rodenburg RJ, Wolf NI, Ferreira P, Lunsing RJ, Nijtmans LG, et al. NUBPL mutations in patients with complex I deficiency and a distinct MRI pattern. Neurology 2013;80:1577-83.
21. Koch J, Freisinger P, Feichtinger RG, Zimmermann FA, Rauscher C, Wagentristl HP, et al. Mutations in TTC19: expanding the molecular, clinical and biochemical phenotype. Orphanet J Rare Dis 2015;10:40.
22. Melchionda L, Haack TB, Hardy S, Abbink TE, Fernandez-Vizarra E, Lamantea E, et al. Mutations in APOPT1, encoding a mitochondrial protein, cause cavitating leukoencephalopathy with cytochrome c oxidase deficiency. Am J Hum Genet 2014;95:315-25.
23. Miyake N, Yano S, Sakai C, Hatakeyama H, Matsushima Y, Shiina M, et al. Mitochondrial complex III deficiency caused by a homozygous UQCRC2 mutation presenting with neonatal-onset recurrent metabolic decompensation. Hum Mutat 2013;34:446-52.
24. Morató L, Bertini E, Verrigni D, Ardissone A, Ruiz M, Ferrer I, et al. Mitochondrial dysfunction in central nervous system white matter disorders. Glia 2014;62:1878-94.
25. Nijtmans LG, Henderson NS, Holt IJ. Blue Native electrophoresis to study mitochondrial and other protein complexes. Methods 2002;26:327-34.
26. Nogueira C, Barros J, Sá MJ, Azevedo L, Taipa R, Torraco A, et al. Novel TTC19 mutation in a family with severe psychiatric manifestations and complex III deficiency. Neurogenetics 2013;14:153-60.
27. Sánchez E, Lobo T, Fox JL, Zeviani M, Winge DR, Fernández-Vizarra E. LYRM7/MZM1L is a UQCRFS1 chaperone involved in the last steps of mitochondrial Complex III assembly in human cells. Biochim Biophys Acta 2013;1827:285-93.
28. Schägger H, Link TA, Engel WD, von Jagow G. Isolation of the eleven protein subunits of the bc1 complex from beef heart. Methods Enzymol 1986;126:224-37.
29. Scheper GC, van der Klok T, van Andel RJ, van Berkel CG, Sissler M, Smet J, et al. Mitochondrial aspartyl-tRNA synthetase deficiency causes leukoencephalopathy with brain stem and spinal cord involvement and lactate elevation. Nat Genet 2007;39:534-9.
30. Schiestl RH, Gietz RD. High efficiency transformation of intact yeast cells using single stranded nucleic acids as a carrier. Curr Genet 1989;16:339-46.
31. Smith PM, Fox JL, Winge DR. Biogenesis of the cytochrome bc (1) complex and role of assembly factors. Biochim Biophys Acta 2012;1817:276-86.
32. Soto IC, Fontanesi F, Valledor M, Horn D, Singh R, Barrientos A, et al. Synthesis of cytochrome c oxidase subunit 1 is translationally downregulated in the absence of functional F1F0-ATP synthase. Biochim Biophys Acta 2009;1793:1776-86.
33. Steenweg ME, Ghezzi D, Haack T, Abbink TE, Martinelli D, van Berkel CG, et al. Leukoencephalopathy with thalamus and brainstem involvement and high lactate 'LTBL' caused by EARS2 mutations. Brain 2012;135:1387-94.
34. van der Knaap MS, Breiter SN, Naidu S, Hart AA, Valk J. Defining and categorizing leukoencephalopathies of unknown origin: MR imaging approach. Radiology 1999;213:121-33.
35. van der Knaap MS and Valk J. Magnetic Resonance of Myelination and Myelin Disorders. 2005; Ed Springer-Verlag Berlin Heidelberg.
36. Wortmann SB, Koolen DA, Smeitink JA, van den Heuvel L, Rodenburg RJ. Whole exome sequencing of suspected mitochondrial patients in clinical practice. J Inherit Metab Dis 2015;38:437-43.