Mild clinical manifestation and unusual recovery upon coenzyme Q10 treatment in the first Chinese Leigh syndrome pedigree with mutation m.10197 G>A

Molecular Medicine Reports

Volumn 11, Issue 3, 2015, Pages 1956-1962

  Chen, Zhiting ^a   Zhao, Zhenhua ^a   Ye, Qinyong ^a   Chen, Ying ^a   Pan, Xiaodong ^a   Sun, Bin ^a   Huang, Huapin ^a   Zheng, An ^a  

^a FUJIAN MEDICAL UNIVERSITY   (China)

Author keywords

Leigh syndrome; Maternally inherited; Mitochondrial disease; Mutation; Phenotype; Treatment

Indexed keywords

LACTIC ACID; REDUCED NICOTINAMIDE ADENINE DINUCLEOTIDE DEHYDROGENASE; REDUCED NICOTINAMIDE ADENINE DINUCLEOTIDE DEHYDROGENASE 3; UBIDECARENONE; UNCLASSIFIED DRUG; MITOCHONDRIAL DNA; UBIQUINONE;

ADOLESCENT; AMINO ACID SUBSTITUTION; ANOREXIA; ARTICLE; ASPHYXIA; BASAL GANGLION; BRAIN DAMAGE; CASE REPORT; CLINICAL FEATURE; DISORDERS OF MITOCHONDRIAL FUNCTIONS; EXERCISE TOLERANCE; FACIAL NERVE PARALYSIS; FATIGUE; FEMALE; FOLLOW UP; GENE MUTATION; GENETIC VARIABILITY; HAN CHINESE; HUMAN; LACTATE BLOOD LEVEL; LEIGH DISEASE; MEDULLA OBLONGATA; MESENCEPHALON; MITOCHONDRIAL HAPLOGROUP; MUSCLE HYPOTONIA; NEUROIMAGING; NUCLEAR MAGNETIC RESONANCE IMAGING; NUCLEAR MAGNETIC RESONANCE SPECTROSCOPY; NYSTAGMUS; PHENOTYPE; PHYSICAL ACTIVITY; PONS; THALAMUS; AMINO ACID SEQUENCE; ANALOGS AND DERIVATIVES; ASIAN CONTINENTAL ANCESTRY GROUP; BIOPSY; BRAIN; CHILD; CHINA; GENETICS; HAPLOTYPE; HETEROZYGOTE; INFANT; MALE; MUTATION; NEWBORN; NUCLEOTIDE SEQUENCE; PATHOLOGY; PEDIGREE; PRESCHOOL CHILD; SKELETAL MUSCLE; TREATMENT OUTCOME;

ADOLESCENT; AMINO ACID SEQUENCE; ASIAN CONTINENTAL ANCESTRY GROUP; BIOPSY; BRAIN; CHILD; CHILD, PRESCHOOL; CHINA; DNA MUTATIONAL ANALYSIS; DNA, MITOCHONDRIAL; FEMALE; HAPLOTYPES; HETEROZYGOTE; HUMANS; INFANT; INFANT, NEWBORN; LEIGH DISEASE; MAGNETIC RESONANCE IMAGING; MALE; MUSCLE, SKELETAL; MUTATION; NADH DEHYDROGENASE; PEDIGREE; TREATMENT OUTCOME; UBIQUINONE;

EID: 84916614210     PISSN: 17912997     EISSN: 17913004     Source Type: Journal    
DOI: 10.3892/mmr.2014.2911     Document Type: Article

References (27)

1. Kirby DM, Crawford M, Cleary MA, et al: Respiratory chain complex I deficiency: an under diagnosed energy generation disorder. Neurology 52: 1255-1264, 1999.
2. Distelmaier F, Koopman WJ, van den Heuvel LP, et al: Mitochondrial complex I deficiency: from organelle dysfunction to clinical disease. Brain 132: 833-842, 2009.
3. Morris AA, Leonard JV, Brown GK, et al: Deficiency of respiratory chain complex I is a common cause of Leigh disease. Ann Neurol 40: 25-30, 1996.
4. Taylor RW, Morris AA, Hutchinson M and Turnbull DM: Leigh disease associated with a novel mitochondrial DNA ND5 mutation. Eur J Hum Genet 10: 141-144, 2002.
5. Leigh D: Subacute necrotizing encephalomyelopathy in an infant. J Neurol Neurosurg Psychiatry 14: 216-221, 1951.
6. Bénit P, Slama A, Cartault F, et al: Mutant NDUFS3 subunit of mitochondrial complex I causes Leigh syndrome. J Med Genet 41: 14-17, 2004.
7. Anderson S, Bankier AT, Barrell BG, et al: Sequence and organization of the human mitochondrial genome. Nature 290: 457-465, 1981.
8. Andrews RM, Kubacka I, Chinnery PF, et al: Reanalysis and revision of the Cambridge reference sequence for human mitochondrial DNA. Nat Genet 23: 147, 1999.
9. Kivisild T, Tolk HV, Parik J, et al: The emerging limbs and twigs of the East Asian mtDNA tree. Mol Biol Evol 19: 1737-1751, 2002.
10. Finsterer J: Leigh and Leigh-like syndrome in children and adults. Pediatr Neurol 39: 223-235, 2008.
11. 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 A 143: 33-41, 2007.
12. 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 61: 622-624, 2007
13. Ruiz-Pesini E, Mishmar D, Brandon M, et al: Effects of purifying and adaptive selection on regional variation in human mtDNA. Science 303: 223-226, 2004.
14. White SL, Collins VR, Wolfe R, et al: Genetic counseling and prenatal diagnosis for the mitochondrial DNA mutations at nucleotide 8993. Am J Hum Genet 62: 474-482, 1999.
15. Leshinsky-Silver E, Lev D, Malinger G, et al: Leigh disease presenting in utero due to a novel missense mutation in the mitochondrial DNA-ND3. Mol Genet Metab 100: 65-70, 2010.
16. Hudson G, Carelli V, Spruijt L, et al: Clinical expression of Leber hereditary optic neuropathy is affected by the mitochondrial DNA-haplogroup background. Am J Hum Genet 81: 228-233, 2007.
17. Ji Y, Zhang AM, Jia X, et al: Mitochondrial DNA haplogroups M7b1'2 and M8a affect clinical expression of leber hereditary optic neuropathy in Chinese families with the m.11778G->a mutation. Am J Hum Genet 83: 760-768, 2008.
18. Hwang S, Kwak SH, Bhak J, et al: Gene expression pattern in transmitochondrial cytoplasmic hybrid cells harboring type 2 diabetes-associated mitochondrial DNA haplogroups. PLoS One 6: e22116, 2011.
19. Fuku N, Park KS, Yamada Y, et al: Mitochondrial haplogroup N9a confers resistance against type 2 diabetes in Asians. Am J Hum Genet 80: 407-415, 2007.
20. Tanaka M, Fuku N, Nishigaki Y, et al: Women with mitochondrial haplogroup N9a are protected against metabolic syndrome. Diabetes 56: 518-521, 2007.
21. Wang K, Takahashi Y, Gao ZL, et al: Mitochondrial ND3 as the novel causative gene for Leber hereditary optic neuropathy and dystonia. Neurogenetics 10: 337-345, 2009.
22. Papucci L, Schiavone N, Witort E, et al: Coenzyme Q10 prevents apoptosis by inhibiting mitochondrial depolarization independently of its free radical scavenging property. J Biol Chem 278: 28220-28228, 2003.
23. Ishii N, Senoo-Matsuda N, Miyake K, et al: Coenzyme Q10 can prolong C. elegans lifespan by lowering oxidative stress. Mech Ageing Dev 125: 41-46, 2004.
24. Navas P, Fernandez-Ayala DM, Martin SF, et al: Ceramide-dependent caspase 3 activation is prevented by coenzyme Q from plasma membrane in serum-deprived cells. Free Radic Res 36: 369-374, 2002.
25. Echtay KS, Winkler E and Klingenberg M: Coenzyme Q is an obligatory cofactor for uncoupling protein function. Nature 408: 609-613, 2000.
26. Ostergaard E, Hansen FJ, Sorensen N, et al: Mitochondrial encephalomyopathy with elevated methylmalonic acid is caused by SUCLA2 mutations. Brain 130: 853-861, 2007.
27. Piao YS, Tang GC, Yang H and Lu DH: Clinico-neuropathological study of a Chinese case of familial adult Leigh syndrome. Neuropathology 26: 218-221, 2000.