Clinical phenotype and segregation of mitochondrial 3243A>G mutation in 2 pairs of monozygotic twins

JAMA Neurology

Volumn 73, Issue 8, 2016, Pages 990-993

  Maeda, Kengo ^a,b   Kawai, Hiromichi ^b   Sanada, Mitsuru ^b   Terashima, Tomoya ^b   Ogawa, Nobuhiro ^a,b   Idehara, Ryo ^a   Makiishi, Tetsuya ^c   Yasuda, Hitoshi ^b   Sato, Shun Ichi ^d   Hoshi, Ken Ichi ^d   Yahikozawa, Hiroyuki ^d   Nishi, Katsuji ^b   Itoh, Yasushi ^b   Ogasawara, Kazumasa ^b   Tomita, Kazuo ^e   Indo, Hiroko P ^e   Majima, Hideyuki J ^e  

^a Higashi ohmi General Medical Center   (Japan)

^b SHIGA UNIVERSITY OF MEDICAL SCIENCE   (Japan)

^c Yabase Chuo Hospital   (Japan)

^d NAGANO RED CROSS HOSPITAL   (Japan)

^e KAGOSHIMA UNIVERSITY   (Japan)

Author keywords

[No Author keywords available]

Indexed keywords

MITOCHONDRIAL DNA;

ADULT; AGED; ARTICLE; CASE REPORT; CASE STUDY; CAUSE OF DEATH; CELL NUCLEUS; CLINICAL FEATURE; CONGESTIVE HEART FAILURE; CONTROLLED STUDY; DIABETES MELLITUS; DISEASE COURSE; DISORDERS OF MITOCHONDRIAL FUNCTIONS; FEMALE; GENE MUTATION; GENE SEGREGATION; HEARING IMPAIRMENT; HETEROPLASMY; HUMAN; HUMAN TISSUE; MALE; MELAS SYNDROME; MITOCHONDRIAL MUTATION; MITOCHONDRION; MONOZYGOTIC TWINS; MORTALITY; ONSET AGE; PHENOTYPE; PRIORITY JOURNAL; SUDDEN CARDIAC DEATH; GENETICS; MIDDLE AGED; MUTATION; TWINS;

ADULT; AGED; DNA, MITOCHONDRIAL; HUMANS; MALE; MELAS SYNDROME; MIDDLE AGED; MITOCHONDRIAL DISEASES; MUTATION; PHENOTYPE; TWINS, MONOZYGOTIC;

EID: 84981275886     PISSN: 21686149     EISSN: None     Source Type: Journal    
DOI: 10.1001/jamaneurol.2016.0886     Document Type: Article

References (18)

1. Rose MR. Mitochondrial myopathies: genetic mechanisms. Arch Neurol. 1998;55(1):17-24.
2. Zeviani M, Gellera C, Pannacci M, et al. Tissue distribution and transmission of mitochondrial DNA deletions in mitochondrial myopathies. Ann Neurol. 1990;28(1):94-97.
3. Shanske S, Moraes CT, Lombes A, et al. Widespread tissue distribution of mitochondrial DNA deletions in Kearns-Sayre syndrome. Neurology. 1990;40(1):24-28.
4. Matthews PM, Brown RM, 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.
5. Degoul F, Diry M, Pou-Serradell A, Lloreta J, Marsac C. Myo-leukoencephalopathy in twins: study of 3243-myopathy, encephalopathy, lactic acidosis, and strokelike episodes mitochondrial DNA mutation. Ann Neurol. 1994;35(3):365-370.
6. Feigenbaum A, Chitayat D, Robinson B, et al. The expanding clinical phenotype of the tRNA(Leu(UUR)) A-G mutation at np 3243 of mitochondrial DNA: diabetic embryopathy associated with mitochondrial cytopathy. Am J Med Genet. 1996;62(4):404-409.
7. Morgan-Hughes JA, Sweeney MG, Cooper JM, et al. Mitochondrial DNA (mtDNA) diseases: correlation of genotype to phenotype. Biochim Biophys Acta. 1995;1271(1):135-140.
8. Scott L. The origin of monozygotic twinning. Reprod Biomed Online. 2002;5(3):276-284.
9. Matthews PM, Hopkin J, Brown RM, Stephenson JB, Hilton-Jones D, Brown GK. Comparison of the relative levels of the 3243 (A-G) mtDNA mutation in heteroplasmic adult and fetal tissues. J Med Genet. 1994;31(1):41-44.
10. Harding AE, Holt IJ, Sweeney MG, Brockington M, Davis MB. Prenatal diagnosis of mitochondrial DNA8993 T-G disease. Am J Hum Genet. 1992;50 (3):629-633.
11. Dunbar DR, Moonie PA, Jacobs HT, Holt IJ. Different cellular backgrounds confer a marked advantage to either mutant or wild-type mitochondrial genomes. Proc Natl Acad Sci USA. 1995;92(14):6562-6566.
12. Hao H, Morrison LE, Moraes CT. Suppression of a mitochondrial tRNA gene mutation phenotype associated with changes in the nuclear background. Hum Mol Genet. 1999;8(6):1117-1124.
13. Nakashima-Kamimura N, Asoh S, Ishibashi Y, et al. MIDAS/GPP34, a nuclear gene product, regulates total mitochondrial mass in response to mitochondrial dysfunction. J Cell Sci. 2005;118(pt 22):5357-5367.
14. Blakely EL, He L, Taylor RW, et al. Mitochondrial DNA deletion in "identical" twin brothers. J Med Genet. 2004;41(2):e19-e22.
15. Spyropoulos A, Manford M, Horvath R, et al. Near-identical segregation of mtDNA heteroplasmy in blood, muscle, urinary epithelium, and hair follicles in twins with optic atrophy, ptosis, and intractable epilepsy. JAMA Neurol. 2013;70(12): 1552-1555.
16. Craven L, Tuppen HA, Greggains GD, et al. Pronuclear transfer in human embryos to prevent transmission of mitochondrial DNA disease. Nature. 2010;465(7294):82-85.
17. Paull D, Emmanuele V, Weiss KA, et al. Nuclear genome transfer in human oocytes eliminates mitochondrial DNA variants. Nature. 2013;493 (7434):632-637.
18. Hankins GV, Saade GR. Factors influencing twins and zygosity. Paediatr Perinat Epidemiol. 2005;19(suppl 1):8-9.