Transmission and prenatal diagnosis of the T9176C mitochondrial DNA mutation

Molecular Human Reproduction

Volumn 11, Issue 3, 2005, Pages 223-228

  Jacobs, L J A M ^a   de Coo, I F M ^b   Nijland, J G ^a   Galjaard, R J H ^b   Los, F J ^b   Schoonderwoerd, K ^b   Niermeijer, M F ^c   Geraedts, J P M ^a   Scholte, H R ^b   Smeets, H J M ^a  

^a MAASTRICHT UNIVERSITY   (Netherlands)

^b ERASMUS MEDICAL CENTER   (Netherlands)

^c RADBOUD UNIVERSITY MEDICAL CENTER   (Netherlands)

Author keywords

Leigh syndrome; mtDNA; PGD; Prenatal diagnosis

Indexed keywords

ADENOSINE TRIPHOSPHATASE; ADENOSINE TRIPHOSPHATASE 6; MITOCHONDRIAL DNA; PYRUVATE DEHYDROGENASE; UNCLASSIFIED DRUG;

AMNION FLUID CYTOLOGY; ARTICLE; CASE REPORT; CHILD; CHORION VILLUS SAMPLING; COMPLEX FORMATION; DEGENERATIVE DISEASE; ENZYME ACTIVITY; ENZYME INHIBITION; FEMALE; GENE EXPRESSION; GENE TRANSFER; GENETIC ANALYSIS; GENOTYPE PHENOTYPE CORRELATION; HETEROZYGOSITY; HUMAN; HUMAN TISSUE; LEIGH DISEASE; MALE; MUSCLE BIOPSY; MUTATIONAL ANALYSIS; PREDICTION; PRENATAL DIAGNOSIS; PRIORITY JOURNAL; PROGNOSIS; RELATIVE; RELIABILITY;

CHILD; DNA MUTATIONAL ANALYSIS; DNA, MITOCHONDRIAL; FEMALE; HUMANS; LEIGH DISEASE; MALE; MITOCHONDRIAL PROTON-TRANSLOCATING ATPASES; MUSCLE, SKELETAL; PEDIGREE; PHENOTYPE; POINT MUTATION; PREGNANCY; PRENATAL DIAGNOSIS; PYRUVATE DEHYDROGENASE COMPLEX;

EID: 20844435966     PISSN: 13609947     EISSN: None     Source Type: Journal    
DOI: 10.1093/molehr/gah152     Document Type: Article

References (39)

1. Akagi M, Inui K, Tsukamoto H, Sakai N, Muramatsu T, Yamada M, Matsuzaki K, Goto Y, Nonaka I and Okada S (2002) A point mutation of mitochondrial ATPase 6 gene in Leigh syndrome. Neuromuscul Disord 12,53-55.
2. Arts WF, Scholte HR, Loonen MC, Przyrembel H, Fernandes J, Trijbels JM and Luyt-Houwen IE (1987) Cytochrome c oxidase deficiency in subacute necrotizing encephalomyelopathy. J Neurol Sci 77,103-115.
3. Bartley J, Senadheera D, Park P, Brar H, Abad D and L-J W (1996) Prenatal diagnosis of T8993G mitochondrial DNA point mutation in amniocytes by heteroplasmy detection. Am J Hum Genet 59,A316.
4. Blok RB, Gook DA, Thorburn DR and Dahl HH (1997) Skewed segregation of the mtDNA nt 8993 (T → G) mutation in human oocytes. Am J Hum Genet 60,1495-1501.
5. Campos Y, Martin MA, Rubio JC, Solana LG, Garcia-Benayas C, Terradas JL and Arenas J (1997) Leigh syndrome associated with the T9176C mutation in the ATPase 6 gene of mitochondrial DNA. Neurology 49, 595-597.
6. Carrozzo R, Murray J, Santorelli FM and Capaldi RA (2000) The T9176G mutation of human mtDNA gives a fully assembled but inactive ATP synthase when modeled in Escherichia coli. FEBS Lett 486,297-299.
7. Carrozzo R, Tessa A, Vazquez-Memije ME, Piemonte F, Patrono C, Malandrini A, Dionisi-Vici C, Vilarinho L, Villanova M, Schagger H et al. (2001) The T9176G mtDNA mutation severely affects ATP production and results in Leigh syndrome. Neurology 56,687-690.
8. Cooperstein SJ and Lazarow A (1951) A microspectrophotometric method for the determination of cytochrome oxidase. J Biol Chem 189,665-670.
9. Dahl HH (1998) Getting to the nucleus of mitochondrial disorders: identification of respiratory chain-enzyme genes causing Leigh syndrome. Am J Hum Genet 63,1594-1597.
10. De Vries DD, Went LN, Bruyn GW, Scholte HR, Hofstra RM, Bolhuis PA and van Oost BA (1996) Genetic and biochemical impairment of mitochondrial complex I activity in a family with Leber hereditary optic neuropathy and hereditary spastic dystonia. Am J Hum Genet 58,703-711.
11. Dean NL, Battersby BJ, Ao A, Gosden RG, Tan SL and Shoubridge EA (2003) Prospect of preimplantation genetic diagnosis for heritable mitochondrial DNA diseases. Mol Hum Reprod 9,631-638.
12. van Den Bosch BJ, de Coo RF, Scholte HR, Nijland JG, van Den Bogaard R, de Visser M, de Die-Smulders CE and Smeets HJ (2000) Mutation analysis of the entire mitochondrial genome using denaturing high performance liquid chromatography. Nucleic Acids Res 28,E89.
13. DiMauro S and Tanji K (1997) Mitochondrial disorders. Jpn J Hum Genet 42,473-487.
14. Dionisi-Vici C, Seneca S, Zeviani M, Fariello G, Rimoldi M, Bertini E and De Meirleir L (1998) Fulminant Leigh syndrome and sudden unexpected death in a family with the T9176C mutation of the mitochondrial ATPase 6 gene. J Inherit Metab Dis 21,2-8.
15. Ferlin T, Landrieu P, Rambaud C, Fernandez H, Dumoulin R, Rustin P and Mousson B (1997) Segregation of the G8993 mutant mitochondrial DNA through generations and embryonic tissues in a family at risk of Leigh syndrome. J Pediatr 131,447-449.
16. Harding AE, Holt IJ, Sweeney MG, Brockington M and Davis MB (1992) Prenatal diagnosis of mitochondrial DNA8993 T→G disease. Am J Hum Genet 50,629-633.
17. Hauswirth WW and Laipis PJ (1982) Mitochondrial DNA polymorphism in a maternal lineage of Holstein cows. Proc Natl Acad Sci USA 79, 4686-4690.
18. Howell N, Chinnery PF, Ghosh SS, Fahy E and Turnbull DM (2000) Transmission of the human mitochondrial genome. Hum Reprod 15 (Suppl 2), 235-245.
19. Leshinsky-Silver E, Perach M, Basilevsky E, Hershkovitz E, Yanoov-Sharav M, Lerman-Sagie T and Lev D (2003) Prenatal exclusion of Leigh syndrome due to T8993C mutation in the mitochondrial DNA. Prenat Diagn 23,31-33.
20. Makino M, Horai S, Goto Y and Nonaka I (1998) Confirmation that a T-to-C mutation at 9176 in mitochondrial DNA is an additional candidate mutation for Leigh's syndrome. Neuromuscul Disord 8,149-151.
21. Makino M, Horai S, Goto Y and Nonaka I (2000) Mitochondrial DNA mutations in Leigh syndrome and their phylogenetic implications. J Hum Genet 45,69-75.
22. Mayr JA and Sperl W (2000) Increased sensitivity and linearity in enzymatic OXPHOS analysis. Eur J Med Res 5,47.
23. Miller SA, Dykes DD and Polesky HF (1988) A simple salting out procedure for extracting DNA from human nucleated cells. Nucleic Acids Res 16,1215.
24. Poulton J and Marchington DR (2000) Progress in genetic counselling and prenatal diagnosis of maternally inherited mtDNA diseases. Neuromuscul Disord 10,484-487.
25. Poulton J and Marchington DR (2002) Segregation of mitochondrial DNA (mtDNA) in human oocytes and in animal models of mtDNA disease: clinical implications. Reproduction 123,751-755.
26. Poulton J and Turnbull DM (2000) 74th ENMC international workshop: mitochondrial diseases 19-20 November 1999, Naarden, The Netherlands. Neuromuscul Disord 10,460-462.
27. Rahman S, Blok RB, Dahl HH, Danks DM, Kirby DM, Chow CW, Christodoulou J and Thorburn DR (1996) Leigh syndrome: clinical features and biochemical and DNA abnormalities. Ann Neurol 39, 343-351.
28. Rustin P, Chretien D, Bourgeron T, Gerard B, Rotig A, Saudubray JM and Munnich A (1994) Biochemical and molecular investigations in respiratory chain deficiencies. Clin Chim Acta 228,35-51.
29. Sambrook J, Fritsch EF and Maniatis T (1998) Molecular Cloning: A Laboratory Manual, 2nd edn. Cold Spring Harbor Press, Cold Spring Harbor, NY.
30. Scholte HR, Busch HF, Bakker HD, Bogaard JM, Luyt-Houwen IE and Kuyt LP (1995) Riboflavin-responsive complex I deficiency. Biochim Biophys Acta 1271,75-83.
31. Srere PA (1969) Citrate synthase. Methods Enzymol 13,3-11.
32. Tanji K, Kunimatsu T, Vu TH and Bonilla E (2001) Neuropathological features of mitochondrial disorders. Semin Cell Dev Biol 12,429-439.
33. Thorburn DR (2004) Mitochondrial disorders: prevalence, myths and advances. J Inherit Metab Dis 27,349-362.
34. Thorburn DR and Dahl HH (2001) Mitochondrial disorders: genetics, counseling, prenatal diagnosis and reproductive options. Am J Med Genet 106,102-114.
35. Thyagarajan D, Shanske S, Vazquez-Memije M, De Vivo D and DiMauro S (1993) A novel mitochondrial ATPase 6 point mutation in familial bilateral striatal necrosis. Ann Neurol 38,468-472.
36. Trounce IA, Kim YL, Jun AS and Wallace DC (1996) Assessment of mitochondrial oxidative phosphorylation in patient muscle biopsies, lymphoblasts, and transmitochondrial cell lines. Methods Enzymol 264,484-509.
37. White SL, Collins VR, Wolfe R, Cleary MA, Shanske S, DiMauro S, Dahl HH and Thorburn DR (1999a) Genetic counseling and prenatal diagnosis for the mitochondrial DNA mutations at nucleotide 8993. Am J Hum Genet 65,474-482.
38. White SL, Shanske S, Biros I, Warwick L, Dahl HM, Thorburn DR and Di Mauro S (1999b) Two cases of prenatal analysis for the pathogenic T to G substitution at nucleotide 8993 in mitochondrial DNA. Prenat Diagn 19,1165-1168.
39. Wilson CJ, Wood NW, Leonard JV, Surtees R and Rahman S (2000) Mitochondrial DNA point mutation T9176C in Leigh syndrome. J Child Neurol 15,830-833.