A novel mutation in the mitochondrial DNA cytochrome b gene (MTCYB) in a patient with mitochondrial encephalomyopathy, lactic acidosis, and strokelike episodes syndrome

Journal of Child Neurology

Volumn 28, Issue 2, 2013, Pages 236-242

  Emmanuele, Valentina ^a,b   Sotiriou, Evangelia ^a   Rios, Purificación Gutierrez ^a   Ganesh, Jaya ^c   Ichord, Rebecca ^c   Foley, A Reghan ^d   Akman, H Orhan ^a   Dimauro, Salvatore ^a  

^a College of Physicians and Surgeons ^*  (United States)

^b UNIVERSITY OF GENOA   (Italy)

^c CHILDREN S HOSPITAL OF PHILADELPHIA   (United States)

^d UNIVERSITY COLLEGE LONDON   (United Kingdom)

Author keywords

cytochrome b; MELAS; mitochondria; MTCYB; mtDNA

Indexed keywords

ARGININE; CARNITINE; CITRATE SYNTHASE; CYTOCHROME B; CYTOCHROME C OXIDASE; ETIRACETAM; LORAZEPAM; MITOCHONDRIAL DNA; PHENOBARBITAL; REDUCED NICOTINAMIDE ADENINE DINUCLEOTIDE DEHYDROGENASE (UBIQUINONE); RIBOFLAVIN; SUCCINATE DEHYDROGENASE; UBIDECARENONE; UBIQUINONE;

ARTICLE; BLOOD; CASE REPORT; CHILD; ELECTROENCEPHALOGRAM; EPILEPSY; FEMALE; FIBROBLAST; GAIT DISORDER; GENE MUTATION; GENE SEQUENCE; HEADACHE; HISTOCHEMISTRY; HOMONYMOUS HEMIANOPIA; HUMAN; INFECTION; MAGNETIC RESONANCE ANGIOGRAPHY; MELAS SYNDROME; MIGRAINE; MUSCLE; NEUROIMAGING; NUCLEAR MAGNETIC RESONANCE IMAGING; PHENOTYPE; PRIORITY JOURNAL; RESPIRATORY TRACT INFECTION; SCHOOL CHILD; SENSORIMOTOR NEUROPATHY; STUTTERING; URINE SEDIMENT; VISUAL IMPAIRMENT;

ACIDOSIS, LACTIC; CHILD; CYTOCHROMES B; FEMALE; HUMANS; MAGNETIC RESONANCE IMAGING; MITOCHONDRIAL ENCEPHALOMYOPATHIES; MUTATION; PARIETAL LOBE; STROKE;

EID: 84872865926     PISSN: 08830738     EISSN: 17088283     Source Type: Journal    
DOI: 10.1177/0883073812445787     Document Type: Article

References (36)

1. Schagger H, Pfeiffer K. Supercomplexes in the respiratory chains of yeast and mammalian mitochondria. EMBO J. 2000 ; 19: 1777-1783
2. Haut S, Brivet M, Touati G, et al. A deletion in the human QP-C gene causes a complex III deficiency resulting in hypoglycemia and lactic acidosis. Hum Genet. 2003 ; 113: 118-122
3. Barel O, Shorer Z, Flusser H, et al. Mitochondrial complex III deficiency associated with a homozygous mutation in UQCRQ. Am J Hum Genet. 2008 ; 82: 1211-1216
4. Visapaa I, Fellman V, Vesa J, et al. GRACILE syndrome, a lethal metabolic disorder with iron overload, is caused by a point mutation in BCS1 L. Am J Hum Genet. 2002 ; 71: 863-876
5. de Lonlay P, Valnot I, Barrientos A, 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
6. Ghezzi D, Arzuffi P, Zordan M, et al. Mutations in TTC19 cause mitochondrial complex III deficiency and neurological impairment in human and flies. Nat Genet. 2011 ; 43: 259-263
7. Andreu AL, Bruno C, Shanske S, et al. Missense mutation in the mtDNA cytochrome b gene in a patient with myopathy. Neurology. 1998 ; 51: 1444-1447
8. Legros F, Chatzoglou E, Frachon P, et al. Functional characterization of novel mutations in the human cytochrome b gene. Eur J Hum Genet. 2001 ; 9: 510-518
9. Andreu AL, Bruno C, Dunne TC, et al. A nonsense mutation (G15059A) in the cytochrome b gene in a patient with exercise intolerance and myoglobinuria. Ann Neurol. 1999 ; 45: 127-130
10. Andreu AL, Hanna MG, Reichmann H, et al. Exercise intolerance due to mutations in the cytochrome b gene of mitochondrial DNA. N Engl J Med. 1999 ; 341: 1037-1044
11. Bruno C, Santorelli FM, Assereto S, et al. Progressive exercise intolerance associated with a new muscle-restricted nonsense mutation (G142X) in the mitochondrial cytochrome b gene. Muscle Nerve. 2003 ; 28: 508-511
12. Lamantea E, Carrara F, Mariotti C, et al. A novel nonsense mutation (Q352X) in the mitochondrial cytochrome b gene associated with a combined defect of complexes I and III. Neuromusc Disord. 2002 ; 12: 49-52
13. Mancuso M, Filosto M, Stevens JC, et al. Mitochondrial myopathy and complex III deficiency in a patient with a new stop-codon mutation (G339X) in the cytochrome b gene. J Neurol Sci. 2003 ; 209: 61-63
14. Massie R, Wong L-JC, Milone M. Exercise intolerance due to cytochrome b mutation. Muscle Nerve. 2010 ; 42: 136-140
15. De Coo IFM, Renier WO, Ruitenbeek W, et al. A 4-base pair deletion in the mitochondrial cytochrome b gene associated with Parkinsonism/MELAS overlap syndrome. Ann Neurol. 1999 ; 45: 130-133
16. Valnot I, Kassis J, Chretien D, et al. A mitochondrial cytochrome b mutation but no mutations of nuclearly encoded subunits in ubiquinol cytochrome c reductase (complex III) deficiency. Hum Genet. 1999 ; 104: 460-466
17. Wibrand F, Ravn K, Schwartz M, et al. Multisystem disorder associated with a missense mutation in the cytochrome b gene. Ann Neurol. 2001 ; 50: 540-543
18. Keightley JA, Anitori R, Burton MD, et al. Mitochondrial encephalomyopathy and complex III deficiency associated with a stop-codon mutation in the cytochrome b gene. Am J Hum Genet. 2000 ; 67: 1400-1410
19. Wang J, Licht DJ. Pediatric perfusion MRI imaging using arterial spin labeling. Neuroimaging Clin. 2006 ; 16: 149-167
20. DiMauro S, Servidei S, Zeviani M, et al. Cytochrome c oxidase deficiency in Leigh syndrome. Ann Neurol. 1987 ; 22: 498-506
21. Dumoulin R, Sagnol I, Ferlin T, et al. A novel gly290asp mitochondrial cytochrome b mutation linked to a complex III deficiency in progressive exercise intolerance. Mol Cell Probes. 1996 ; 10: 389-391
22. Andreu AL, Checcarelli N, Iwata S, et al. A missense mutation in the mitochondrial cytochrome b gene in a revisited case with histiocytoid cardiomyopathy. Pediatr Res. 2000 ; 48: 311-314
23. Fragaki K, Procaccio V, Bannwarth S, et al. A neonatal polyvisceral failure linked to a de novo homoplasmic mutation in the mitochondrially encoded cytochrome b gene. Mitochondrion. 2009 ; 9: 346-352
24. Schuelke M, Krude H, Finckh B, et al. Septo-optic dysplasia associated with a new mitochondrial cytochrome b mutation. Ann Neurol. 2002 ; 51: 388-392
25. Blakely E, Mitchell AL, Fisher N, et al. A mitochondrial cytochrome b mutation causing severe respiratory chain enzyme deficiency in humans and yeast. FEBS J. 2005 ; 272: 3583-3592
26. Schnaufer A, Sbicego S, Blum B. Antimycin A resistance in a mutant Leishmania tarentolae strain is correlated to a point mutation in the mitochondrial apocytochrome b gene. Curr Genet. 2000 ; 37: 234-241
27. Budde SMS, van der Heuvel L, Janssen A, et al. Combined enzymatic complex I and III deficiency associated with mutations in the nuclear encoded NDUFS4 gene. Biochem Biophys Res Comm. 2000 ; 275: 63-68
28. Andreu AL, Bruno C, Hadjigeorgiou GM, et al. Polymorphic variants in the human mitochondrial cytochrome b gene. Mol Genet Metab. 1999 ; 67: 49-52
29. Mourmans J, Wendel U, Bentlage HACM, et al. Clinical heterogeneity in respiratory chain complex III deficiency in childhood. J Neurol Sci. 1997 ; 149: 111-117
30. von Kleist-Retzow J-C, Cormier-Daire V, de Lonlay P, et al. A high rate (20%-30%) of parental consanguinity in cytochrome-oxidase deficiency. Am J Hum Genet. 1998 ; 63: 428-435
31. Kennaway NG, Buist NR, Darley Usmar VM, et al. Lactic acidosis and mitochondrial myopathy associated with deficiency of several components of complex III of the respiratory chain. Pediatr Res. 1984 ; 18: 991-999
32. Shanske S, Pancrudo J, Kaufmann P, et al. Varying loads of the mitochondrial DNA A3243G mutation in different tissues: Implications for diagnosis. Am J Med Genet. 2004 ; 130A: 134-137
33. Besch D, Wissinger B, Zrenner E, Leo-Kottler B. Ein Fall von Leberscher Optikusneuropathie (LHON) mi einer neuen Punktmutation im Cytochrom-b-Gen. Ophthalmologie. 2000 ; 97: 27-32
34. Koga Y, Akita Y, Junko N, et al. Endothelial dysfunction in MELAS improved by l-arginine supplementation. Neurology. 2006 ; 66: 1766-1769
35. Kubota M, Sakakihara Y, Mori M, et al. Beneficial effect of l-arginine for stroke-like episode in MELAS. Brain Dev. 2004 ; 26: 481-483
36. Chen J, Licht DJ, Smith SE, et al. Arterial spin labeling perfusion MRI in pediatric arterial ischemic stroke - initial experience. J Magn Reson Imaging. 2009 ; 29: 282-290