NUBPL mutations in patients with complex I deficiency and a distinct MRI pattern

Neurology

Volumn 80, Issue 17, 2013, Pages 1577-1583

  Kevelam, Sietske H ^a,b   Rodenburg, Richard J ^c   Wolf, Nicole I ^a   Ferreira, Patrick ^d   Lunsing, Roelineke J ^e   Nijtmans, Leo G ^c   Mitchell, Anne ^f   Arroyo, Hugo A ^g   Rating, Dietz ^h   Vanderver, Adeline ⁱ   Van Berkel, Carola G M ^a   Abbink, Truus E M ^a   Heutink, Peter ^b   Van Der Knaap, Marjo S ^a  

^a VU UNIVERSITY MEDICAL CENTER   (Netherlands)

^b VU UNIVERSITY AMSTERDAM   (Netherlands)

^c RADBOUD UNIVERSITY MEDICAL CENTER   (Netherlands)

^d ALBERTA CHILDREN'S HOSPITAL   (Canada)

^e UNIVERSITY MEDICAL CENTER GRONINGEN   (Netherlands)

^f HUTT HOSPITAL   (New Zealand)

^g HOSPITAL DE PEDIATRÍA PROF DR JUAN P GARRAHAN   (Argentina)

^h UNIVERSITY HOSPITAL HEIDELBERG   (Germany)

ⁱ CHILDREN'S NATIONAL MEDICAL CENTER   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

IRON SULFUR PROTEIN; PROTEIN; PROTEIN NUBPL; UNCLASSIFIED DRUG; MITOCHONDRIAL PROTEIN; NUBPL PROTEIN, HUMAN; REDUCED NICOTINAMIDE ADENINE DINUCLEOTIDE DEHYDROGENASE (UBIQUINONE);

ARTICLE; CEREBELLUM CORTEX; CLINICAL ARTICLE; COMPLEX I DEFICIENCY; CONTRAST ENHANCEMENT; CORPUS CALLOSUM; DENTATE NUCLEUS; DIAGNOSTIC TEST ACCURACY STUDY; DISEASE COURSE; EXTERNAL CAPSULE; FOLLOW UP; FRAMESHIFT MUTATION; HOSPITAL PATIENT; HUMAN; MISSENSE MUTATION; MUTATION; NUCLEAR MAGNETIC RESONANCE IMAGING; PATTERN RECOGNITION; PRIORITY JOURNAL; REFERENCE VALUE; SINGLE NUCLEOTIDE POLYMORPHISM; WHITE MATTER; GENETICS; LEUKOENCEPHALOPATHY; NUCLEOTIDE SEQUENCE; PATHOLOGY;

DNA MUTATIONAL ANALYSIS; ELECTRON TRANSPORT COMPLEX I; HUMANS; LEUKOENCEPHALOPATHIES; MAGNETIC RESONANCE IMAGING; MITOCHONDRIAL PROTEINS; MUTATION;

MLCS; MLOWN;

EID: 84878944307     PISSN: 00283878     EISSN: 1526632X     Source Type: Journal    
DOI: 10.1212/WNL.0b013e31828f1914     Document Type: Article

References (25)

1. Schiffmann R, Van der Knaap MS. Invited article: an MRI-based approach to the diagnosis of white matter disorders. Neurology 2009;72:750-759.
2. Loeffen JL, Smeitink JA, Trijbels JM, et al. Isolated complex I deficiency in children: clinical, biochemical and genetic aspects. Hum Mutat 2000;15:123-134.
3. Distelmaier F, Koopman WJ, Van Den Heuvel LP, et al. Mitochondrial complex I deficiency: from organelle dysfunction to clinical disease. Brain 2009;132:833-842.
4. Tucker EJ, Compton AG, Calvo SE, Thorburn DR. The molecular basis of human complex I deficiency. IUBMB Life 2011;63:669-677.
5. Van der Knaap MS, Breiter SN, Naidu S, et al. Defining and categorizing leukoencephalopathies of unknown origin: MR imaging approach. Radiology 1999;213:121-133.
6. Leegwater PA, Vermeulen G, Konst AA, et al. Subunits of the translation initiation factor eIF2B are mutant in leukoencephalopathy with vanishing white matter. Nat Genet 2001;29:383-388.
7. Leegwater PA, Yuan BQ, Van der Steen J, et al. Mutations of MLC1(KIAA0027), encoding a putative membrane protein, cause megalencephalic leukoencephalopathy with subcortical cysts. Am J Hum Genet 2001;68:831-838.
8. Scheper GC, Van der Klok T, Van Andel RJ, et al. Mitochondrial aspartyl-tRNA synthetase deficiency causes leukoencephalopathy with brain stem and spinal cord involvement and lactate elevation. Nat Genet 2007;39:534-539.
9. Zara F, Biancheri R, Bruno C, et al. Deficiency of hyccin, a newly identified membrane protein, causes hypomyelination and congenital cataract. Nat Genet 2006;38:1111-1113.
10. Steenweg ME, Ghezzi D, Haack T, et al. Leukoencephalopathy with thalamus and brainstem involvement and high lactate 'LTBL' caused by EARS2 mutations. Brain 2012;135:1387-1394.
11. Steenweg ME, Pouwels PJ, Wolf NI, et al. Leucoencephalopathy with brainstem and spinal cord involvement and high lactate: quantitative magnetic resonance imaging. Brain 2012;134:3333-3341.
12. Ku CS, Naidoo N, Pawitan Y. Revisiting Mendelian disorders through exome sequencing. Hum Genet 2011;129:351-370.
13. Wolf NI, Seitz A, Harting I, et al. New pattern of brain MRI lesions in isolated complex I deficiency. Neuropediatrics 2003;34:156-159.
14. Calvo SE, Tucker EJ, Compton AG, et al. High-throughput, pooled sequencing identifies mutations in NUBPL and FOXRED1 in human complex I deficiency. Nat Genet 2010;42:851-858.
15. Tucker EJ, Mimaki M, Compton AG, et al. Next-generation sequencing in molecular diagnosis: NUBPL mutations highlight the challenges of variant detection and interpretation. Hum Mutat 2012;33:411-418.
16. Janssen AJ, Trijbels FJ, Sengers RC, et al. Spectrophotometric assay for complex I of the respiratory chain in tissue samples and cultured fibroblasts. Clin Chem 2007;53:729-734.
17. Janssen AJ, Trijbels FJ, Sengers RC, et al. Measurement of the energy-generating capacity of human muscle mitochondria: diagnostic procedure and application to human pathology. Clin Chem 2006;52:860-871.
18. Rodenburg RJ. Biochemical diagnosis of mitochondrial disorders. J Inherit Metab Dis 2011;34:283-292.
19. Calvaruso MA, Smeitink J, Nijtmans L. Electrophoresis techniques to investigate defects in oxidative phosphorylation. Methods 2008;46:281-287.
20. Sheftel AD, Stehling O, Pierik AJ, et al. Human ind1, an ironsulfur cluster assembly factor for respiratory complex I. Mol Cell Biol 2009;29:6059-6073.
21. Bych K, Kerscher S, Netz DJ, et al. The iron-sulphur protein Ind1 is required for effective complex I assembly. EMBO J 2008;27:1736-1746.
22. Van der Knaap MS, Valk J. Magnetic Resonance of Myelination and Myelin Disorders, 3rd ed. Heidelberg: Springer; 2005.
23. Tenisch EV, Lebre AS, Grevent D, et al. Massive and exclusive pontocerebellar damage in mitochondrial disease and NUBPL mutations. Neurology 2012;79:391.
24. Pagliarini DJ, Calvo SE, Chang B, et al. A mitochondrial protein compendium elucidates complex I disease biology. Cell 2008;134:112-123.
25. Sazanov LA, Hinchliffe P. Structure of the hydrophilic domain of respiratory complex I from Thermus thermophilus. Science 2006;311:1430-1436.