Intergenerational transmission of pathogenic heteroplasmic mitochondrial DNA

Genetics in Medicine

Volumn 4, Issue 2, 2002, Pages 78-83

  Wong, Lee Jun C ^a   Wong, Hansie ^a   Lin, Aiyi ^b  

^a GEORGETOWN UNIVERSITY MEDICAL CENTER   (United States)

^b GEORGETOWN UNIVERSITY   (United States)

Author keywords

Heteroplasmic mtDNA; Mitochondrial DNA; Mitochondrial genetics; mtDNA mutation; Transmission of mtDNA

Indexed keywords

MITOCHONDRIAL DNA;

ARTICLE; BLOOD ANALYSIS; CHEEK MUCOSA; GENE MUTATION; GENETIC ANALYSIS; GENETIC LOAD; HAIR FOLLICLE; HETEROPLASMY; HETEROZYGOTE; HUMAN; PROGENY; BLOOD; DISORDERS OF MITOCHONDRIAL FUNCTIONS; FEMALE; FETOMATERNAL TRANSFUSION; GENETICS; MALE; NUCLEOTIDE SEQUENCE; PEDIGREE; POINT MUTATION; POPULATION GENETICS; PREGNANCY; RESTRICTION FRAGMENT LENGTH POLYMORPHISM;

DNA MUTATIONAL ANALYSIS; DNA, MITOCHONDRIAL; FEMALE; GENETICS, POPULATION; HETEROZYGOTE; HUMANS; MALE; MATERNAL-FETAL EXCHANGE; MITOCHONDRIAL DISEASES; PEDIGREE; POINT MUTATION; POLYMORPHISM, RESTRICTION FRAGMENT LENGTH; PREGNANCY;

EID: 0036515339     PISSN: 10983600     EISSN: None     Source Type: Journal    
DOI: 10.1097/00125817-200203000-00005     Document Type: Article

References (32)

1. Shoffner J, Wallace D. Oxidative phosphorylation diseases. In: Scriver CR, Beaudet AL, Sly WS, Valle D, editors. The metabolic and molecular bases of inherited disease, 7th ed. New York: McGraw-Hill, 1995:1535-1629.
2. DiMauro S, Bonilla E, Davidson M, Hirano M, Schon EA. Mitochondrial in neuromuscular disorders. Biochim Biophys Acta 1998;1366:199-210.
3. Chinnery PF, Turnbull DM. Mitochondrial DNA and disease. Lancet 1999; 354(suppl 1):17-21.
4. lys gene (G8363A). Am J Hum Genet 1996;58:933-939.
5. Chinnery PF, Howell N, Lightowlers RN, Turnbull DM. Molecular pathology of MELAS and MERRF: the relationship between mutation load and clinical phenotype. Brain 1997;120:1713-1721.
6. White SL,_Collins VR, Wolfe R, Cleary MA, Shanske S, DiMauro S, Dahl HM, Thorburn DR. Genetic counseling and prenatal diagnosis for the mitochondrial DNA mutations at nucleotide 8993. Am J Hum Genet 1999;65:474-482.
7. Hart LM, Jansen JJ, Lemkes HHPJ, de Knijff P, Maassen JA. Heteroplasmy levels of a mitochondrial gene mutation associated with diabetes mellitus decrease in leukocyte DNA upon ageing. Hum Mutat 1996;7:193-197.
8. Howell N, Ghosh SS, Fahy E, Bindoff LA. Longitudinal analysis of the segregation of mtDNA mutations in heteroplasmic individuals. J Neurol Sci 2000;172:1-6.
9. Weber K, Wilson JN, Taylor L, Brierley E, Johnson MA, Turnbull DM, Bindoff LA. A new mtDNA mutation showing accumulation with time and restriction to skeletal muscle. Am J Hum Genet 1997;60:373-380.
10. Yoneda M, Chomyn A, Martinuzzi A, Hurko O, Attardi G. Marked replicative advantage of human mtDNA carrying a point mutation that causes the MELAS encephalomyopathy. Proc Natl Acad Sci U S A 1992;89:11164-11168.
11. Chinnery PF, Turnbull DM. The clinical features, investigation and management of patients with mitochondrial DNA defects. J Neurol Neurosurg Psychiatry 1997;63: 559-563.
12. Lightowlers RN, Chinnery PF, Howell N, Turnbull DM. Mammalian mitochondrial genetics: heredity, heteroplasmy and disease. Trends Genet 1997;13:4450-4455.
13. Blok RB, Gook DA, Thorburn DR, Hahl HM. Skewed segregation of the mtDNA nt 8993 (T→G) mutation in human oocytes. Am J Hum Genet 1997;60:1495-1501.
14. Tulinius MH, Houshmand M, Larsson NG, Holme E, Oldfors A, Holmberg E, Wahlstrom J. De novo mutation in the mitochondrial ATP symhase subunit 6 gene (T8993G) with rapid segregation resulting in Leigh syndrome in the offspring. Hum Genet 1995;96:290-294.
15. Chinnery PF, Nowell N, Lightowlers RN, Turnbull DM. Genetic counseling and prenatal diagnosis for mtDNA disease. Am J Hum Genet 1998;63:1908-1910.
16. Chinnery PF, Howell N, Lightowlers RN, Turnbull DM. MELAS and MERRF: the relationship between maternal mutation load and the frequency of clinically affected offspring. Brain 1998;121:1889-1894.
17. Sue CM, Quigley A, Katsabanis S, Kapsa R, Crimmins DS, Byrne E, Morris JGL. Detection of MELAS A3243G point mutation in muscle, blood and hair follicles. J Neurol Sci 1998;161:36-39.
18. White SL, Shanske S, McGill JI, Mountain H, Geraghty MT, DiMauro S, Dahl HH, Thorburn DR. Mitochondrial DNA mutations at nucleotide 8993 show a lack of tissue- or age-related variation. J Inherit Metab Dis 1999;22:899-914:
19. Chinnery PF, Thorburn DR, Samuels DC, White SL, Dahl HM, Turnbull DM, Lightowlers RN, Howell N. The inheritance of mitochondrial DNA heteroplasmy: random drift, selection or both? Trends Genet 2000;16:500-505.
20. Wong LJC, Senadheera D. Direct detection of multiple point mutations in mitochondrial DNA. Clin Chem 1997;43:1857-1861.
21. Liang M, Wong LJC. Yield of mtDNA mutation analysis in 2000 patients. Am J Med Genet 1998;77:395-400.
22. Isotani H, Fukumoto Y, Kawamura H, Furukawa K, Ohsawa N, Goto Y, Nishino I, Nonaka I. Hypoparathyroidism and insulin-dependent diabetes mellitus in a patient with Kearns-Sayre syndrome harbouring a mitochondrial DNA deletion. Clin Endocrinol 1996;45:637-641.
23. Wong LJC, Lam C. Alternative, noninvasive tissues for quantitative screening of mutant mitochondrial DNA. Clin Chem 1997;43:1241-1243.
24. Tatuch Y, Christodoulou J, Feigenbaum A, Clarke JTR, Wherret J, Smith C, Rudd N, Petrova-Benedict R, Robinson BH. Heteroplasmic mtDNA mutation (T→G) at 8993 can cause Leigh disease when the percentage of abnormal mtDNA is high. Am J Hum Genet 1992;50:852-858.
25. Santorelli FM, Shanske S, Jain KD, Tick D, Schon EA, DiMauro S. A T→C mutation at nt8993 of mitochondrial DNA in a child with Leigh syndrome. Neurology 1994; 44:972-974.
26. Leu(UUR) gene using PCR-SSCP. Muscle Nerve 1995;18:1390-1397.
27. Woolson RF. Statistical methods for the analysis of biomedical data. New York: Wiley & Sons, 1987.
28. 8993T→G disease. Am J Hum Genet 1992;50:629-633.
29. Brown DT, Samuels DC, Michael EM, Turnbull DM, Chinnery PF. Random genetic drift determines the level of mutant mtDNA in human primary oocytes. Am J Hum Genet 2001;68:533-536.
30. 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 U S A 1995;92:6562-6566:
31. Michikawa Y, Mazzucchelli F, Bresolin N, Scarlato G, Attardi G. Aging-dependent large accumulation of point mutations in the human mtDNA control region for replication. Science 1999;286:774-779.
32. Wong LJC. Recognition of mitochondrial DNA deletion syndrome with non-neuromuscular multisystemic manifestation. Genet Med 2001;3:399-404.