A case of Leigh syndrome associated with respiratory chain complex I deficiency due to mitochondrial gene 13513G > A mutation

Chinese Journal of Contemporary Pediatrics

Volumn 11, Issue 5, 2009, Pages 333-336

  Wei, Xiao Qiong ^a   Kong, Qing Peng ^a   Zhang, Yao ^a   Yang, Yan Ling ^a   Chang, Xing Zhi ^a   Qi, Yu ^a   Qi, Zhao Yue ^a   Xiao, Jiang Xi ^a   Qin, Jiong ^a   Wu, Xi Ru ^a  

^a PEKING UNIVERSITY FIRST HOSPITAL   (China)

Author keywords

13513G > A; Child; Complex I deficiency; Leigh syndrome; Mitochondrial gene; Mitochondrial respiratory chain

Indexed keywords

CARNITINE; LACTIC ACID; LIPID; MULTIVITAMIN; PYRUVIC ACID;

ADOLESCENT; ARTICLE; BASAL GANGLION; BRAIN DAMAGE; CASE REPORT; COMPLEX I DEFICIENCY; DISEASE ASSOCIATION; ELECTROCARDIOGRAM; GAIT DISORDER; GENE MUTATION; GENERAL CONDITION DETERIORATION; GENERALIZED EPILEPSY; GENETIC ANALYSIS; HEART RIGHT BUNDLE BRANCH BLOCK; HUMAN; LACTATE BLOOD LEVEL; LEIGH DISEASE; LIPID STORAGE; MALE; MITOCHONDRIAL GENE; MUSCLE BIOPSY; MUSCLE CELL; MUSCLE WEAKNESS; NUCLEAR MAGNETIC RESONANCE IMAGING; RESPIRATORY CHAIN; VISUAL FIELD DEFECT; VISUAL IMPAIRMENT; WEIGHT REDUCTION;

ADOLESCENT; DNA, MITOCHONDRIAL; ELECTRON TRANSPORT COMPLEX I; HUMANS; LEIGH DISEASE; MALE; MUTATION;

EID: 65749096440     PISSN: 10088830     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Article

References (27)

1. Smeitink J, van den Heuvel L, DiMauro S. The genetics and pathology of oxidative phosphorylation [J]. Nat Rev Genet, 2001, 2 (5): 342-352.
2. Zeviani M, Donato S. Mitochandrial disorders [J]. Brain, 2004, 127(Pt 10):2153-2172.
3. Anderson S, Bankier AT, Barrell BG, de Bruijn MH, Coulson AR, Drouin J, et al. Sequence and organization of the human mitochondrial genome[J]. Nature, 1981, 290(5806):457-465.
4. Wallace DC, Lott MT, Torroni A. Report of the Committee on human mitochondrial DNA [M]. //Cuticchia AJ, Pearson PL. Human Gene Mapping, 1993: A Compendium. Baltimore: Johns Hopkins Univ, 1994, 813-845.
5. Santorelli FM, Tanji K, Kulikova R, Shanske S, Vilarinho L, Hays AP, et al. Identification of a novel mutation in the mtDNA ND5 gene associated with MELAS [J]. Biochem Biophys Res Commun, 1997, 238(2):326-328.
6. Sudo A, Honzawa S, Nonaka I, Goto Y. Leigh syndrome caused by mitochondrial DNA G13513A mutation: frequency and clinical features in Japan[J]. J Hum Genet, 2004, 49(2):92-96.
7. Kirby DM, Boneh A, Chow CW, Ohtake A, Ryan MT, Thyagarajan D, et al. Low mutant load of mitochondrial DNA G13513A mutation can cause Leigh's disease [J]. Ann Neurol, 2003, 54 (4):473-478.
8. Munnich A, RÖtig A, Cormier-Daire V. Clinical presentation of respiratory chain deficiency [M]. // Scriver CR, Beaudet AL, Sly WS, et al. The metabolic and molecular bases of inherited disease. 8th ed. New York: McGraw-Hill, 2001, 2261-2274.
9. Chinese source.
10. Miller SA, Dykes DD, Polesky HF. A simple salting out procedure for extracting DNA from human nucleated cell [J]. Nucleic Acids Res, 1988, 16(3):1215.
11. Chinese source.
12. Chinese source.
13. Chinese source.
14. Chinese source.
15. Aicardi J. Diseases of the nervous system in childhood[M]. London: Mac Keith Press, 1998, 520-531.
16. DiMauro S, Schon EA. Mitochondrial respiratory-chain diseases [J]. N Engl J Med, 2003, 348(26):2656-2668.
17. von Kleist-Retzow JC, Cormier-Daire V, de Lonlay P, Parfait B, Chretien D, Bustin P, et al. A high rate (20%-30%) of parental consanguinity in cytochrome oxidase deficiency [J]. Am J Hum Genet, 1998, 63(2):428-435.
18. Kirby DM, Crawford M, Cleary MA, Dahl HH, Dennett X, Thorburn DR. Respiratory chain complex I deficiency: an underdiagnosed energy generation disorder[J]. Neurology, 1999, 52(6): 1255-1264.
19. Morris AA, Leonard JV, Brown GK, Bidouki SK, Bindoff LA, Woodward CE, et al. Deficiency of respiratory chain complex I is a common cause of Leigh disease [J]. Ann Neurol, 1996, 40 (1):25-30.
20. Bugiani M, Invernizzi F, Alberio S, Briem E, Lamantea E, Carrara F, et al. Clinical and molecular findings in children with complex I deficiency[J]. Biochim Biophys Acta, 2004, 1659(2-3):136-147.
21. Janssen RJ, Nijtmans LG, van den Heuvel LP, Smeitink JA. Mitochondrial complex I: structure, function and pathology [J]. J Inherit Metab Dis, 2006, 29(4):499-515.
22. Kirby DM, McFarland R, Ohtake A, Dunning C, Ryan MT, Wilson C, et al. Mutations of the mitochondrial ND1 gene as a cause of MELAS[J]. J Med Genet, 2004, 41(10):784-789.
23. Rahman S, Blok RB, Dahl HH, Danks DM, Kirby DM, Chow CW, et al. Leigh syndrome: clinical features and biochemical and DNA abnormahties[J]. Ann Neurol, 1996, 39(3):343-351.
24. Robinson BH. Human complex I deficiency: clinical spectrum and involvement of oxygen free radicals in the pathogenicity of the defect [J]. Biochim Biophys Acta, 1998, 1364(2):271-286.
25. Blok MJ, Spruijt L, de Coo IF, Schoonderwoerd K, Hendrickx A, Smeets HJ. Mutations in the ND5 subunit of complex I of the mitochondrial DNA are a frequent cause of oxidative phosphorylation disease [J]. J Med Genet, 2007, 44(4):e74.
26. Triepels RH, Van Den Heuvel LP, Trijbels JM, Smeitink JA. Respiratory chain complex I deficiency [J]. Am J Med Genet, 2001, 106(1):37-45.
27. Ruiter EM, Siers MH, van den Elzen C, van Engelen BG, Smeitink JA, Rodenburg RJ, et al. The mitochondrial 13513G > A mutation is most frequent in Leigh syndrome combined with reduced complex I activity, optic atrophy and/or Wolff-Parkinson-White[J]. Eur J Hum Genet, 2007, 15(2):155-161.