The clinical spectrum of the m.10191T>C mutation in complex I-deficient Leigh syndrome

Developmental Medicine and Child Neurology

Volumn 54, Issue 6, 2012, Pages 500-506

  Nesbitt, Victoria ^a   Morrison, Patrick J ^b   Crushell, Ellen ^c   Donnelly, Deirdre E ^b   Alston, Charlotte L ^a   He, Langping ^a   Mcfarland, Robert ^a   Taylor, Robert W ^a  

^a NEWCASTLE UNIVERSITY   (United Kingdom)

^b BELFAST CITY HOSPITAL   (United Kingdom)

^c CHILDREN S UNIVERSITY HOSPITAL   (Ireland)

Author keywords

[No Author keywords available]

Indexed keywords

CARBAMAZEPINE; LACTIC ACID; MITOCHONDRIAL DNA; PHENOBARBITAL; REDUCED NICOTINAMIDE ADENINE DINUCLEOTIDE DEHYDROGENASE (UBIQUINONE);

APNEA; BASAL GANGLION; CAUDATE NUCLEUS; CEREBROSPINAL FLUID LEVEL; CLINICAL FEATURE; COMPLEX I DEFICIENCY; FAMILY HISTORY; GENE MUTATION; HUMAN; LACTATE BLOOD LEVEL; LEIGH DISEASE; MACROCEPHALY; MITOCHONDRIAL GENOME; MITOCHONDRIAL RESPIRATION; NEUROIMAGING; NUCLEAR MAGNETIC RESONANCE IMAGING; POINT MUTATION; PRIORITY JOURNAL; PUTAMEN; REVIEW; SEIZURE; SOCIAL ADAPTATION; THALAMUS;

ADULT; BRAIN; CHILD, PRESCHOOL; ELECTRON TRANSPORT COMPLEX I; FEMALE; HUMANS; INFANT; INFANT, NEWBORN; LEIGH DISEASE; MAGNETIC RESONANCE IMAGING; MALE; POINT MUTATION; PROLINE; SERINE;

EID: 84860890052     PISSN: 00121622     EISSN: 14698749     Source Type: Journal    
DOI: 10.1111/j.1469-8749.2012.04224.x     Document Type: Review

References (35)

1. Skladal D, Halliday J, Thorburn DR. Minimum birth prevalence of mitochondrial respiratory chain disorders in children. Brain 2003; 126: 1905-12.
2. McFarland R, Taylor RW, Turnbull DM. A neurological perspective on mitochondrial disease. Lancet Neurol 2010; 9: 829-40.
3. Distelmaier F, Koopman WJ, van den Heuvel LP, et al. Mitochondrial complex I deficiency: from organelle dysfunction to clinical disease. Brain 2009; 132: 833-42.
4. Kirby DM, Crawford M, Cleary MA, Dahl HH, Dennett X, Thorburn DR. Respiratory chain complex I deficiency. Neurology 1999; 52: 1255-64.
5. Loeffen JL, Smeitink JA, Trijbels JM, et al. Isolated complex I deficiency in children: clinical, biochemical and genetic aspects. Hum Mutat 2000; 15: 123-34.
6. Rahman S, Blok RB, Dahl HH, et al. Leigh syndrome: clinical features and biochemical and DNA abnormalities. Ann Neurol 1996; 39: 343-51.
7. Morris AA, Leonard JV, Brown GK, et al. Deficiency of respiratory chain complex I is a common cause of Leigh disease. Ann Neurol 1996; 40: 25-30.
8. Tuppen HA, Hogan VE, He L, et al. The p.M292T NDUFS2 mutation causes complex I-deficient Leigh syndrome in multiple families. Brain 2010; 133: 2952-63.
9. Calvo SE, Tucker EJ, Compton AG, et al. High-throughput, pooled sequencing identifies mutations in NUBPL and FOXRED1 in human complex I deficiency. Nature Genet 2010; 42: 851-8.
10. Bugiani M, Invernizzi F, Alberio S, et al. Clinical and molecular findings in children with complex I deficiency. Biochim Biophys Acta 2004; 1659: 136-47.
11. Swalwell H, Kirby DM, Blakely EL, et al. Respiratory chain complex I deficiency caused by mitochondrial DNA mutations. Eur J Hum Genet 2011; 19: 769-75.
12. McFarland R, Kirby DM, Fowler KJ, et al. De novo mutations in the mitochondrial ND3 gene as a cause of infantile mitochondrial encephalopathy and complex I deficiency. Ann Neurol 2004; 55: 58-64.
13. Taylor RW, Singh-Kler R, Hayes CM, et al. Progressive mitochondrial disease resulting from a novel missense mutation in the mitochondrial DNA ND3 gene. Ann Neurol 2001; 50: 104-7.
14. Sarzi E, Brown MD, Lebon S, et al. A novel recurrent mitochondrial DNA mutation in ND3 gene is associated with isolated complex I deficiency causing Leigh syndrome and dystonia. Am J Med Genet 2007; 143A: 33-41.
15. Taylor RW, Morris AA, Hutchinson M, Turnbull DM. Leigh disease associated with a novel mitochondrial DNA ND5 mutation. Eur J Hum Genet 2002; 10: 141-4.
16. Chol M, Lebon S, Benit P, et al. The mitochondrial DNA G13513A MELAS mutation in the NADH dehydrogenase 5 gene is a frequent cause of Leigh-like syndrome with isolated complex I deficiency. J Med Genet 2003; 40: 188-91.
17. Corona P, Antozzi C, Carrara F, et al. A novel mtDNA mutation in the ND5 subunit of complex I in two MELAS patients. Ann Neurol 2001; 49: 106-10.
18. Kirby DM, Kahler SG, Freckman ML, Reddihough D, Thorburn DR. Leigh disease caused by the mitochondrial DNA G14459A mutation in unrelated families. Ann Neurol 2000; 48: 102-4.
19. Ugalde C, Triepels RH, Coenen MJ, et al. Impaired complex I assembly in a Leigh syndrome patient with a novel missense mutation in the ND6 gene. Ann Neurol 2003; 54: 665-9.
20. Lebon S, Chol M, Benit P, et al. Recurrent de novo mitochondrial DNA mutations in respiratory chain deficiency. J Med Genet 2003; 40: 896-9.
21. Leshinsky-Silver E, Lev D, Tzofi-Berman Z, et al. Fulminant neurological deterioration in a neonate with Leigh syndrome due to a maternally transmitted missense mutation in the mitochondrial ND3 gene. Biochem Biophys Res Commun 2005; 334: 582-7.
22. Esteitie N, Hintatala R, Wibom R, et al. Secondary metabolic effects in complex I deficiency. Ann Neurol 2005; 58: 544-52.
23. Malfatti E, Bugiani M, Invernizzi F, et al. Novel mutations of ND genes in complex I deficiency associated with mitochondrial encephalopathy. Brain 2007; 130: 1894-904.
24. Bannwarth S, Procaccio V, Rouzier C, et al. Rapid identification of mitochondrial DNA (mtDNA) mutations in neuromuscular disorders by using surveyor strategy. Mitochondrion 2008; 8: 136-45.
25. Lee HF, Tsai CR, Chi CS, Lee HJ, Chen CC. Leigh syndrome: clinical and neuroimaging follow-up. Pediatr Neurol 2009; 40: 88-93.
26. Lim BC, Park JD, Hwang H, et al. Mutations in ND subunits of complex I are an important genetic cause of childhood mitochondrial encephalopathies. J Child Neurol 2009; 24: 828-32.
27. Werner KG, Morel CF, Kirton A, et al. Rolandic mitochondrial encephalomyelopathy and MT-ND3 mutations. Pediatr Neurol 2009; 41: 27-33.
28. Chi CS, Lee HF, Tsai CR, Lee HJ, Chen LH. Clinical manifestations in children with mitochondrial diseases. Pediatr Neurol 2010; 43: 183-9.
29. Goto T, Mori M, Yamagata T, et al. A case of Leigh syndrome with complex I deficiency presenting diffuse necrotising change in white matter. XI International Child Neurology Congress 2010.
30. Leigh D. Subacute necrotizing encephalomyelopathy in an infant. J Neurol Neurosurg Psychiatry 1951; 14: 216-21.
31. Lebre AS, Rio M, Faivre d'Arcier L, et al. A common pattern of brain MRI imaging in mitochondrial diseases with complex I deficiency. J Med Genet 2011; 48: 16-23.
32. Brown GK, Otero LJ, Brown RM. Pyruvate dehydrogenase deficiency. J Med Genet 1994; 31: 875-9.
33. Kirby DM, Salemi R, Sugiana C, et al. NDUFS6 mutations are a novel cause of lethal neonatal mitochondrial complex I deficiency. J Clin Invest 2004; 114: 837-45.
34. Wang K, Takahashi Y, Gao Z, et al. Mitochondrial ND3 as the novel causative gene for Leber hereditary optic neuropathy and dystonia. Neurogenetics 2009; 10: 337-45.
35. Chae JH, Lee JS, Kim KJ, et al. A novel ND3 mitochondrial DNA mutation in three Korean children with basal ganglia lesions and complex I deficiency. Pediatr Res 2007; 61: 622-4.