Polar body mutation load analysis in a patient with A3243G tRNALeu(UUR) point mutation

Mitochondrion

Volumn 11, Issue 4, 2011, Pages 626-629

  Vandewoestyne, Mado ^a   Heindryckx, Björn ^b   Lepez, Trees ^a   Van Coster, Rudy ^b   Gerris, Jan ^b   De Sutter, Petra ^b   Deforce, Dieter ^a  

^a GHENT UNIVERSITY   (Belgium)

^b GHENT UNIVERSITY HOSPITAL   (Belgium)

Author keywords

Heteroplasmy; MtDNA; Mutation load; PCR RFLP; Polar body analysis

Indexed keywords

LEUCINE TRANSFER RNA; MITOCHONDRIAL DNA;

ARTICLE; CELL ISOLATION; CLINICAL PROTOCOL; CONTROLLED STUDY; GENETIC LOAD; HETEROPLASMY; HUMAN; HUMAN CELL; MUTATIONAL ANALYSIS; OOCYTE; PERIPHERAL BLOOD MONONUCLEAR CELL; POINT MUTATION; POLAR BODY ANALYSIS; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; RESTRICTION FRAGMENT LENGTH POLYMORPHISM; VALIDATION PROCESS;

DNA MUTATIONAL ANALYSIS; FEMALE; HUMANS; LEUKOCYTES, MONONUCLEAR; METAPHASE; MITOCHONDRIAL DISEASES; OOCYTES; POINT MUTATION; POLYMORPHISM, RESTRICTION FRAGMENT LENGTH; RNA; RNA, TRANSFER, LEU;

EID: 79957947367     PISSN: 15677249     EISSN: 18728278     Source Type: Journal    
DOI: 10.1016/j.mito.2011.03.123     Document Type: Article

References (22)

1. Ballard J.W., Whitlock M.C. The incomplete natural history of mitochondria. Mol. Ecol. 2004, 13(4):729-744.
2. Blok R.B., Gook D.A., Thorburn D.R., Dahl H.H. Skewed segregation of the mtDNA nt 8993 (T->G) mutation in human oocytes. Am. J. Hum. Genet. 1997, 60(6):1495-1501.
3. Brown D.T., Samuels D.C., Michael E.M., Turnbull D.M., Chinnery P.F. Random genetic drift determines the level of mutant mtDNA in human primary oocytes. Am. J. Hum. Genet. 2001, 68(2):533-536.
4. Cavelier L., Johannisson A., Gyllensten U. Analysis of mtDNA copy number and composition of single mitochondrial particles using flow cytometry and PCR. Exp. Cell Res. 2000, 259(1):79-85.
5. Dean N.L., Battersby B.J., Ao A., Gosden R.G., Tan S.L., Shoubridge E.A., Molnar M.J. Prospect of preimplantation genetic diagnosis for heritable mitochondrial DNA diseases. Mol. Hum. Reprod. 2003, 9(10):631-638.
6. DiMauro S., Schon E.A. Mitochondrial DNA mutations in human disease. Am. J. Med. Genet. 2001, 106(1):18-26.
7. Goossens V., De Rycke M., De Vos A., Staessen C., Michiels A., Verpoest W., Van Steirteghem A., Bertrand C., Liebaers I., Devroey P., Sermon K. Diagnostic efficiency, embryonic development and clinical outcome after the biopsy of one or two blastomeres for preimplantation genetic diagnosis. Hum. Reprod. 2008, 23(3):481-492.
8. Jahangir Tafrechi R.S., van de Rijke F.M., Allallou A., Larsson C., Sloos W.C., van de Sande M., Wahlby C., Janssen G.M., Raap A.K. Single-cell A3243G mitochondrial DNA mutation load assays for segregation analysis. J. Histochem. Cytochem. 2007, 55(11):1159-1166.
9. Lightowlers R.N., Chinnery P.F., Turnbull D.M., Howell N. Mammalian mitochondrial genetics: heredity, heteroplasmy and disease. Trends Genet. 1997, 13(11):450-455.
10. Marchington D., Malik S., Banerjee A., Turner K., Samuels D., Macaulay V., Oakeshott P., Fratter C., Kennedy S., Poulton J. Information for genetic management of mtDNA disease: sampling pathogenic mtDNA mutants in the human germline and in placenta. J. Med. Genet. 2009, 47(4):257-261.
11. Matthews P.M., Brown R.M., Morten K., Marchington D., Poulton J., Brown G. Intracellular heteroplasmy for disease-associated point mutations in mtDNA: implications for disease expression and evidence for mitotic segregation of heteroplasmic units of mtDNA. Hum. Genet. 1995, 96(3):261-268.
12. Meulemans A., Seneca S., Smet J., De Paepe B., Lissens W., Van Coster R., Debeer A., De Meirleir L., Jaeken J. A new family with the mitochondrial tRNAGLU gene mutation m.14709T>C presenting with hydrops fetalis. Eur. J. Paediatr. Neurol. 2007, 11(1):17-20.
13. Monnot S., Gigarel N., Hesters L., Burlet P., Benachi A., Dumez Y., Tachdjian G., Rötig A., Frydman R., Munnich A., Frydman N., Bonnefont J.P., Steffann J. The challenge of prenatal and preimplantation genetic diagnosis of mitochondrial DNA disorders. European society of human genetics annual meeting; Austria 2009, 23-26.
14. Monnot S., Gigarel N., Samuels D.C., Burlet P., Hesters L., Frydman N., Frydman R., Kerbrat V., Funalot B., Martinovic J., Benachi A., Feingold J., Munnich A., Bonnefont J.P., Steffann J. Segregation of mtDNA throughout human embryofetal development: m.3243A>G as a model system. Hum. Mutat. 2011, 32(1):116-125.
15. Nagy Z.P., Chang C.C., Shapiro D.B., Bernal D.P., Kort H.I., Vajta G. The efficacy and safety of human oocyte vitrification. Semin. Reprod. Med. 2009, 27(6):450-455.
16. Poulton J., Bredenoord A.L. 174th ENMC international workshop: applying pre-implantation genetic diagnosis to mtDNA diseases: implications of scientific advances 19-21 March 2010, Naarden, The Netherlands. Neuromuscul. Disord. 2010, 20(8):559-563.
17. Poulton J., Kennedy S., Oakeshott P., Wells D. Preventing transmission of maternally inherited mitochondrial DNA diseases. Bmj. 2009, 338:b94.
18. Saitoh S., Momoi M.Y., Yamagata T., Nakauchi H., Nihei K., Fujii M. Single-cell analysis of mitochondrial DNA in patients and a carrier of the tRNA(Leu)(UUR) gene mutation. J. Inherit. Metab. Dis. 1999, 22(5):608-614.
19. Steffann J., Frydman N., Gigarel N., Burlet P., Ray P.F., Fanchin R., Feyereisen E., Kerbrat V., Tachdjian G., Bonnefont J.P., Frydman R., Munnich A. Analysis of mtDNA variant segregation during early human embryonic development: a tool for successful NARP preimplantation diagnosis. J. Med. Genet. 2006, 43(3):244-247.
20. Thorburn D.R., Wilton L., Stock-Myer S. Healthy baby girl born following pre-implantation genetic diagnosis for mitochondrial DNA m.8993t>g mutation. Mol. Genet. Metab. 2009, 98:5-6.
21. Vandewoestyne M., Van Hoofstat D., Van Nieuwerburgh F., Deforce D. Automatic detection of spermatozoa for laser capture microdissection. Int. J. Legal Med. 2009, 123(2):169-175.
22. Vandewoestyne M., Van Hoofstat D., Van Nieuwerburgh F., Deforce D. Suspension fluorescence in situ hybridization (S-FISH) combined with automatic detection and laser microdissection for STR profiling of male cells in male/female mixtures. Int. J. Legal Med. 2009, 123(5):441-447.