Leigh disease presenting in utero due to a novel missense mutation in the mitochondrial DNA-ND3

Molecular Genetics and Metabolism

Volumn 100, Issue 1, 2010, Pages 65-70

  Leshinsky Silver, Esther ^a   Lev, Dorit ^a,b   Malinger, Gustavo ^b   Shapira, Daniel ^a   Cohen, Sarit ^a   Lerman Sagie, Tally ^a,b   Saada, Ann ^c  

^a WOLFSON MEDICAL CENTER   (Israel)

^b Prenatal Diagnosis Unit   (Israel)

^c HADASSAH HEBREW UNIVERSITY MEDICAL CENTER   (Israel)

Author keywords

Leigh syndrome; Mitochondria; mtDNA; ND3; Respiratory chain

Indexed keywords

ASPARAGINE; ASPARTIC ACID; MITOCHONDRIAL DNA; PYRUVATE DEHYDROGENASE; PYRUVATE DEHYDROGENASE E1ALPHA; REDUCED NICOTINAMIDE ADENINE DINUCLEOTIDE DEHYDROGENASE (UBIQUINONE); UNCLASSIFIED DRUG;

AMINO ACID SUBSTITUTION; ARTICLE; BRAIN CYST; CASE REPORT; COMPLEX I DEFICIENCY; EXTRACHROMOSOMAL INHERITANCE; FETUS ECHOGRAPHY; GENE; HUMAN; HUMAN TISSUE; INFANT; LEIGH DISEASE; MALE; MISSENSE MUTATION; MUSCLE BIOPSY; ND3 GENE; PERIVENTRICULAR PSEUDOCYST; PRIORITY JOURNAL;

AMINO ACID SEQUENCE; DNA, MITOCHONDRIAL; ELECTRON TRANSPORT COMPLEX I; FATAL OUTCOME; HUMANS; INFANT; LEIGH DISEASE; MALE; MUTATION, MISSENSE; SEQUENCE ALIGNMENT; ULTRASONOGRAPHY, PRENATAL;

EID: 77950519832     PISSN: 10967192     EISSN: 10967206     Source Type: Journal    
DOI: 10.1016/j.ymgme.2010.02.002     Document Type: Article

References (40)

1. Leigh D. Subacute necrotizing encephalopathy in an infant. J. Neurol. Neurosurg. Psychiatry 14 (1951) 216-221
2. DiMauro S., and Schon E.A. Mitochondrial respiratory-chain diseases. N. Engl. J. Med. 348 (2003) 2656-2886
3. Naess K., Freyer C., Bruhn H., Wibom R., Malm G., Nennesmo I., von Döbeln U., and Larsson NG. mtDNA mutations are a common cause of severe disease phenotypes in children with Leigh syndrome. Biochim. Biophys. Acta 1787 (2009) 484-490
4. Taylor R.W., Morris A.A., Hutchinson M., and Turnbull D.M. Leigh disease associated with a novel mitochondrial DNA ND5 mutation. Eur. J. Hum. Genet. 10 (2002) 141-144
5. Crimi M., Papadimitriou A., Galbiati S., Palamidou P., Fortunato F., Bordoni A., Papandreou U., Papadimitriou D., Hadjigeorgiou G.M., Drogari E., Bresolin N., and Comi G.P. A new mitochondrial DNA mutation in ND3 gene causing severe Leigh syndrome with early lethality. Pediatr. Res. 55 (2004) 842-846
6. Chol M., Lebon S., Benit P., Chrestien D., deLonlay P., Goldenberg A., Odent S., Hertz-Pannier L., Vincent-Delorme C., Cormier-Daire V., Rustin P., Rotig A., and Munnich A. The mitochondrial DNA G13523A MELAS mutation in the ND5 gene is a frequent cause of Leigh-like syndrome with isolated complex I deficiency. J. Med. Genet. 40 (2003) 188-191
7. Lebon S., Chol M., Benit P., Mugnier C., Chretien D., Giurgea I., Kern I., Girardin E., Hertz-Pannier L., de Lonlay P., Rotig A., Rustin P., and Munnich A. Recurrent de novo mitochondrial DNA mutations in respiratory chain deficiency. J. Med. Genet. 40 (2003) 896-899
8. McFarland R., Kirby D.M., Fowler K.J., Ohtake A., Ryan M.T., Amor D.J., Fletcher J.M., Dixon J.W., Collins F.A., Turnbull D.M., Taylor R.W., and Thorburn D.R. De novo mutations in the mitochondrial ND3 gene as a cause of infantile mitochondrial encephalopathy and complex I deficiency. Ann. Neurol. 55 (2004) 58-64
9. Kirby D.M., Boneh A., Chow C.W., Ohtake A., Ryan M.T., Thyagarajan D., and Thorburn D.R. Low mutant load of mitochondrial DNA G13513A mutation can cause Leigh disease. Ann. Neurol. 54 (2003) 473-478
10. Taylor R.W., Singh-Kler R., Hayes C.M., Smith P.E., and Turnbull D.M. Progressive mitochondrial disease resulting from a novel missense mutation in the mitochondrial DNA ND3 gene. Ann. Neurol. 50 (2001) 104-107
11. Sudo A., Honzawa S., Nonaka I., and Goto Y. Leigh syndrome caused by mitochondrial DNA G13513A mutation: frequency and clinical features in Japan. J. Hum. Genet. 49 (2004) 92-96
12. Komaki H., Akanuma J., Iwata H., Takahashi T., Mashima Y., Nonaka I., and Goto Y. A novel mtDNA C11777A mutation in Leigh syndrome. Mitochondrion 2 (2003) 293-304
13. Kirby D.M., Kahler S.G., Freckmann M.L., Reddihough D., and Thorburn D.R. Leigh disease caused by the mitochondrial DNA G14459Amutation in two unrelated families. Ann. Neurol. 48 (2000) 102-104
14. Solano A., Roig M., Vives-Bauza C., Hernandez-Pena J., Garcia-Arumi E., Playan A., Lopez-Perez M.J., Andreu A.L., and Montoya J. Bilateral striatal necrosis associated with a novel mutation in the mitochondrial ND6 gene. Ann. Neurol. 54 (2003) 527-530
15. Tulinius M., Moslemi A.R., Darin N., Westerberg B., Wiklund L.M., Holme E., and Oldfors A. Leigh syndrome with cytochrome-c oxidase deficiency and a single T insertion nt 5537 in the mitochondrial tRNATrp gene. Neuropediatrics 34 (2003) 87-91
16. Tsao C.Y., Herman G., Boue D.R., Prior T.W., Lo W.D., Atkin J.F., and Rusin J. Leigh disease with mitochondrial DNA A8344G mutation: case report and brief review. J. Child Neurol. 18 (2003) 62-64
17. Santorelli F.M., Tanji K., Sano M., Shanske S., El-Shahawi M., Kranz-Eble P., DiMauro S., and De Vivo D.C. Maternally inherited encephalopathy associated with a single-base insertion in the mitochondrial tRNATrp gene. Ann. Neurol. 42 (1997) 256-260
18. Howell N., Kubacka I., Smith R., Frerman F., Parks J.K., and Parker W.D. Association of the mitochondrial 8344 MERRF mutation with maternally inherited spinocerebellar degeneration and Leigh disease. Neurology 46 (1996) 219-222
19. Leshinsky-Silver E., Lev D., Tzofi-Berman Z., Cohen S., Saada A., Yanoov-Sharav M., Gilad E., and Lerman-Sagie T. 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. 334 (2005) 582-587
20. Lim B.C., Park J.D., Hwang H., Kim K.J., Hwang Y.S., Chae J.H., Cheon J.E., Kim I.O., Lee R., and Moon H.K. Mutations in ND subunits of complex I are an important genetic cause of childhood mitochondrial encephalopathies. J. Child Neurol. 24 (2009) 828-832
21. Chae J.H., Lee J.S., Kim K.J., Hwang Y.S., Bonilla E., Tanji K., and Hirano M. A novel ND3 mitochondrial DNA mutation in three Korean children with basal ganglia lesions and complex I deficiency. Pediatr. Res. 61 (2007) 622-624
22. Sarzi E., Brown M.D., Lebon S., Chretien D., Munnich A., Rotig A., and Procaccio V. 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. 143 (2007) 33-41
23. Tulinius M.H., Holme E., Kristiansson B., Larsson N.G., and Oldfors A. Mitochondrial encephalomyopathies in childhood. I. Biochemical and morphologic investigations. J. Pediatr. 11 (1991) 242-250
24. Rustin P., Chretien D., Bourgeron T., Gerard B., Rotig A., Saudubray J.M., and Munnich A. Biochemical and molecular investigations in respiratory chain deficiencies. Clin. Chim. Acta 228 (1994) 35-51
25. Reisch A.S., and Elpeleg O. Biochemical assays of TCA enzymes and PDHc. Methods Cell Biol. 80 (2007) 199-222
26. Calvaruso M.A., Smeitink J., and Nijtmans L. Electrophoresis techniques to investigate defects in oxidative phosphorylation. Methods 46 (2008) 281-287
27. Saada A., Edvardson S., Rapoport M., Shaag A., Amry K., Miller C., Lorberboum-Galski H., and Elpeleg O. C6ORF66 is an assembly factor of mitochondrial complex I. Am. J. Hum. Genet. 82 (2008) 32-38
28. Leshinsky-Silver E., Lebre A.S., Minai L., Saada A., Steffann J., Cohen S., Rötig A., Munnich A., Lev D., and Lerman-Sagie T. NDUFS4 mutations cause Leigh syndrome with predominant brainstem involvement. Mol. Genet. Metab. 97 (2009) 185-189
29. Remacle C., Barbieri M.R., Cardol P., and Hamel P.P. Eukaryotic complex I: functional diversity and experimental systems to unravel the assembly process. Mol. Genet. Genomics 280 (2008) 93-110
30. Papa S., De Rasmo D., Scacco S., Signorile A., Technikova-Dobrova Z., Palmisano G., Sardanelli A.M., Papa F., Panelli D., Scaringi R., and Santeramo A. Mammalian complex I: a regulable and vulnerable pacemaker in mitochondria respiratory function. Biochim. Biophys. Acta 1777 (2008) 719-728
31. Lazarou M., Thorburn D.R., Ryan M.T., and McKenzie M. Assembly of mitochondrial complex I and defects in disease. Biochim. Biophys. Acta 1793 (2009) 78-88
32. Vogel R.O., Janssen R.J., van den Brand M.A., Dieteren C.E., Verkaart S., Koopman W.J., Willems P.H., Pluk W., van den Heuvel L.P., Smeitink J.A., and Nijtmans L.G. Cytosolic signaling protein Ecsit also localizes to mitochondria where it interacts with chaperone NDUFAF1 and functions in complex I assembly. Genes Dev. 21 (2007) 615-624
33. Antonicka H., Ogilvie I., Taivassalo T., Anitori R.P., Haller R.G., Vissing J., Kennaway N.G., and Shoubridge E.A. Identification and characterization of a common set of complex I assembly intermediates in mitochondria from patients with complex I deficiency. J. Biol. Chem. 278 (2003) 43081-43088
34. Ugalde C., Janssen R.J., van den Heuvel L.P., Smeitink J.A., and Nijtmans L.G. Differences in assembly or stability of complex I and other mitochondrial OXPHOS complexes in inherited complex I deficiency. Hum. Mol. Genet. 13 (2004) 659-667
35. Ugalde C., Vogel R., Hipbones R., Van Den Heuvel B., Smeitink J., and Nijtmans L. Human mitochondrial complex I assembles through the combination of evolutionary conserved modules: a framework to interpret complex I deficiencies. Hum. Mol. Genet. 13 (2004) 2461-2472
36. von Kleist-Retzow J.C., Cormier-Daire V., Viot G., Goldenberg A., Mardach B., Amiel J., Saada P., Dumez Y., Brunelle F., Saudubray J.M., Chrétien D., Rötig A., Rustin P., Munnich A., and De Lonlay P. Antenatal manifestations of mitochondrial respiratory chain deficiency. J. Pediatr. 143 (2003) 208-212
37. Gire C., Girard N., Nicaise C., Einaudi M.A., Montfort M.F., and Dejode J.M. Clinical features and neuroradiological findings of mitochondrial pathology in six neonates. Childs Nerv. Syst. 18 (2002) 621-685
38. Rohr Bach M., Chitayat D., Maegawa G., Shanske S., Davidzon G., Chong K., Clarke J.T., Toi A., Tarnopolsky M., Robinson B., and Blaser S. Intracerebral periventricular pseudocysts in a fetus with mitochondrial depletion syndrome: an association or coincidence. Fetal Diagn. Ther. 25 (2009) 177-182
39. Malinger G., Lev D., Ben Sira L., Kidron D., Tamarkin M., and Lerman-Sagie T. Congenital periventricular pseudocysts: prenatal sonographic appearance and clinical implications. Ultrasound Obstet. Gynecol. 20 (2002) 447-451
40. Prasad A.N., Malinger G., and Lerman-Sagie T. Primary disorders of metabolism and disturbed fetal brain development. Clin. Perinatol. 36 (2009) 621-638