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American Journal of Human Genetics logoLink to American Journal of Human Genetics
editorial
. 1992 Dec;51(6):1179–1186.

Mitochondrial genetics: principles and practice.

J M Shoffner, D C Wallace
PMCID: PMC1682908  PMID: 1463005

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Selected References

These references are in PubMed. This may not be the complete list of references from this article.

  1. Ballinger S. W., Shoffner J. M., Hedaya E. V., Trounce I., Polak M. A., Koontz D. A., Wallace D. C. Maternally transmitted diabetes and deafness associated with a 10.4 kb mitochondrial DNA deletion. Nat Genet. 1992 Apr;1(1):11–15. doi: 10.1038/ng0492-11. [DOI] [PubMed] [Google Scholar]
  2. Berkovic S. F., Carpenter S., Evans A., Karpati G., Shoubridge E. A., Andermann F., Meyer E., Tyler J. L., Diksic M., Arnold D. Myoclonus epilepsy and ragged-red fibres (MERRF). 1. A clinical, pathological, biochemical, magnetic resonance spectrographic and positron emission tomographic study. Brain. 1989 Oct;112(Pt 5):1231–1260. doi: 10.1093/brain/112.5.1231. [DOI] [PubMed] [Google Scholar]
  3. Boulet L., Karpati G., Shoubridge E. A. Distribution and threshold expression of the tRNA(Lys) mutation in skeletal muscle of patients with myoclonic epilepsy and ragged-red fibers (MERRF). Am J Hum Genet. 1992 Dec;51(6):1187–1200. [PMC free article] [PubMed] [Google Scholar]
  4. Breimer L. H. Molecular mechanisms of oxygen radical carcinogenesis and mutagenesis: the role of DNA base damage. Mol Carcinog. 1990;3(4):188–197. doi: 10.1002/mc.2940030405. [DOI] [PubMed] [Google Scholar]
  5. Bresolin N., Martinelli P., Barbiroli B., Zaniol P., Ausenda C., Montagna P., Gallanti A., Comi G. P., Scarlato G., Lugaresi E. Muscle mitochondrial DNA deletion and 31P-NMR spectroscopy alterations in a migraine patient. J Neurol Sci. 1991 Aug;104(2):182–189. doi: 10.1016/0022-510x(91)90308-t. [DOI] [PubMed] [Google Scholar]
  6. Brown M. D., Voljavec A. S., Lott M. T., MacDonald I., Wallace D. C. Leber's hereditary optic neuropathy: a model for mitochondrial neurodegenerative diseases. FASEB J. 1992 Jul;6(10):2791–2799. doi: 10.1096/fasebj.6.10.1634041. [DOI] [PubMed] [Google Scholar]
  7. Brown M. D., Voljavec A. S., Lott M. T., Torroni A., Yang C. C., Wallace D. C. Mitochondrial DNA complex I and III mutations associated with Leber's hereditary optic neuropathy. Genetics. 1992 Jan;130(1):163–173. doi: 10.1093/genetics/130.1.163. [DOI] [PMC free article] [PubMed] [Google Scholar]
  8. Brown M. D., Yang C. C., Trounce I., Torroni A., Lott M. T., Wallace D. C. A mitochondrial DNA variant, identified in Leber hereditary optic neuropathy patients, which extends the amino acid sequence of cytochrome c oxidase subunit I. Am J Hum Genet. 1992 Aug;51(2):378–385. [PMC free article] [PubMed] [Google Scholar]
  9. Case J. T., Wallace D. C. Maternal inheritance of mitochondrial DNA polymorphisms in cultured human fibroblasts. Somatic Cell Genet. 1981 Jan;7(1):103–108. doi: 10.1007/BF01544751. [DOI] [PubMed] [Google Scholar]
  10. Chomyn A., Meola G., Bresolin N., Lai S. T., Scarlato G., Attardi G. In vitro genetic transfer of protein synthesis and respiration defects to mitochondrial DNA-less cells with myopathy-patient mitochondria. Mol Cell Biol. 1991 Apr;11(4):2236–2244. doi: 10.1128/mcb.11.4.2236. [DOI] [PMC free article] [PubMed] [Google Scholar]
  11. Clark J. M., Beardsley G. P. Thymine glycol lesions terminate chain elongation by DNA polymerase I in vitro. Nucleic Acids Res. 1986 Jan 24;14(2):737–749. doi: 10.1093/nar/14.2.737. [DOI] [PMC free article] [PubMed] [Google Scholar]
  12. Corral-Debrinski M., Stepien G., Shoffner J. M., Lott M. T., Kanter K., Wallace D. C. Hypoxemia is associated with mitochondrial DNA damage and gene induction. Implications for cardiac disease. JAMA. 1991 Oct 2;266(13):1812–1816. [PubMed] [Google Scholar]
  13. Cortopassi G. A., Arnheim N. Detection of a specific mitochondrial DNA deletion in tissues of older humans. Nucleic Acids Res. 1990 Dec 11;18(23):6927–6933. doi: 10.1093/nar/18.23.6927. [DOI] [PMC free article] [PubMed] [Google Scholar]
  14. Fukuhara N., Tokiguchi S., Shirakawa K., Tsubaki T. Myoclonus epilepsy associated with ragged-red fibres (mitochondrial abnormalities ): disease entity or a syndrome? Light-and electron-microscopic studies of two cases and review of literature. J Neurol Sci. 1980 Jul;47(1):117–133. doi: 10.1016/0022-510x(80)90031-3. [DOI] [PubMed] [Google Scholar]
  15. Giles R. E., Blanc H., Cann H. M., Wallace D. C. Maternal inheritance of human mitochondrial DNA. Proc Natl Acad Sci U S A. 1980 Nov;77(11):6715–6719. doi: 10.1073/pnas.77.11.6715. [DOI] [PMC free article] [PubMed] [Google Scholar]
  16. Goto Y., Horai S., Matsuoka T., Koga Y., Nihei K., Kobayashi M., Nonaka I. Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes (MELAS): a correlative study of the clinical features and mitochondrial DNA mutation. Neurology. 1992 Mar;42(3 Pt 1):545–550. doi: 10.1212/wnl.42.3.545. [DOI] [PubMed] [Google Scholar]
  17. Goto Y., Nonaka I., Horai S. A mutation in the tRNA(Leu)(UUR) gene associated with the MELAS subgroup of mitochondrial encephalomyopathies. Nature. 1990 Dec 13;348(6302):651–653. doi: 10.1038/348651a0. [DOI] [PubMed] [Google Scholar]
  18. Goto Y., Tojo M., Tohyama J., Horai S., Nonaka I. A novel point mutation in the mitochondrial tRNA(Leu)(UUR) gene in a family with mitochondrial myopathy. Ann Neurol. 1992 Jun;31(6):672–675. doi: 10.1002/ana.410310617. [DOI] [PubMed] [Google Scholar]
  19. Gyllensten U., Wharton D., Josefsson A., Wilson A. C. Paternal inheritance of mitochondrial DNA in mice. Nature. 1991 Jul 18;352(6332):255–257. doi: 10.1038/352255a0. [DOI] [PubMed] [Google Scholar]
  20. Hattori K., Tanaka M., Sugiyama S., Obayashi T., Ito T., Satake T., Hanaki Y., Asai J., Nagano M., Ozawa T. Age-dependent increase in deleted mitochondrial DNA in the human heart: possible contributory factor to presbycardia. Am Heart J. 1991 Jun;121(6 Pt 1):1735–1742. doi: 10.1016/0002-8703(91)90020-i. [DOI] [PubMed] [Google Scholar]
  21. Holt I. J., Harding A. E., Morgan-Hughes J. A. Deletions of muscle mitochondrial DNA in patients with mitochondrial myopathies. Nature. 1988 Feb 25;331(6158):717–719. doi: 10.1038/331717a0. [DOI] [PubMed] [Google Scholar]
  22. Holt I. J., Harding A. E., Petty R. K., Morgan-Hughes J. A. A new mitochondrial disease associated with mitochondrial DNA heteroplasmy. Am J Hum Genet. 1990 Mar;46(3):428–433. [PMC free article] [PubMed] [Google Scholar]
  23. Howell N., Bindoff L. A., McCullough D. A., Kubacka I., Poulton J., Mackey D., Taylor L., Turnbull D. M. Leber hereditary optic neuropathy: identification of the same mitochondrial ND1 mutation in six pedigrees. Am J Hum Genet. 1991 Nov;49(5):939–950. [PMC free article] [PubMed] [Google Scholar]
  24. Howell N., Kubacka I., Xu M., McCullough D. A. Leber hereditary optic neuropathy: involvement of the mitochondrial ND1 gene and evidence for an intragenic suppressor mutation. Am J Hum Genet. 1991 May;48(5):935–942. [PMC free article] [PubMed] [Google Scholar]
  25. Huoponen K., Vilkki J., Aula P., Nikoskelainen E. K., Savontaus M. L. A new mtDNA mutation associated with Leber hereditary optic neuroretinopathy. Am J Hum Genet. 1991 Jun;48(6):1147–1153. [PMC free article] [PubMed] [Google Scholar]
  26. Johns D. R., Berman J. Alternative, simultaneous complex I mitochondrial DNA mutations in Leber's hereditary optic neuropathy. Biochem Biophys Res Commun. 1991 Feb 14;174(3):1324–1330. doi: 10.1016/0006-291x(91)91567-v. [DOI] [PubMed] [Google Scholar]
  27. Johns D. R., Neufeld M. J. Cytochrome b mutations in Leber hereditary optic neuropathy. Biochem Biophys Res Commun. 1991 Dec 31;181(3):1358–1364. doi: 10.1016/0006-291x(91)92088-2. [DOI] [PubMed] [Google Scholar]
  28. Larsson N. G., Andersen O., Holme E., Oldfors A., Wahlström J. Leber's hereditary optic neuropathy and complex I deficiency in muscle. Ann Neurol. 1991 Nov;30(5):701–708. doi: 10.1002/ana.410300511. [DOI] [PubMed] [Google Scholar]
  29. Larsson N. G., Tulinius M. H., Holme E., Oldfors A., Andersen O., Wahlström J., Aasly J. Segregation and manifestations of the mtDNA tRNA(Lys) A-->G(8344) mutation of myoclonus epilepsy and ragged-red fibers (MERRF) syndrome. Am J Hum Genet. 1992 Dec;51(6):1201–1212. [PMC free article] [PubMed] [Google Scholar]
  30. Lertrit P., Noer A. S., Jean-Francois M. J., Kapsa R., Dennett X., Thyagarajan D., Lethlean K., Byrne E., Marzuki S. A new disease-related mutation for mitochondrial encephalopathy lactic acidosis and strokelike episodes (MELAS) syndrome affects the ND4 subunit of the respiratory complex I. Am J Hum Genet. 1992 Sep;51(3):457–468. [PMC free article] [PubMed] [Google Scholar]
  31. Lessell S., Gise R. L., Krohel G. B. Bilateral optic neuropathy with remission in young men. Variation on a theme by Leber? Arch Neurol. 1983 Jan;40(1):2–6. doi: 10.1001/archneur.1983.04050010022005. [DOI] [PubMed] [Google Scholar]
  32. Lutz W. K. Endogenous genotoxic agents and processes as a basis of spontaneous carcinogenesis. Mutat Res. 1990 May;238(3):287–295. doi: 10.1016/0165-1110(90)90020-c. [DOI] [PubMed] [Google Scholar]
  33. Mackey D., Howell N. A variant of Leber hereditary optic neuropathy characterized by recovery of vision and by an unusual mitochondrial genetic etiology. Am J Hum Genet. 1992 Dec;51(6):1218–1228. [PMC free article] [PubMed] [Google Scholar]
  34. Müller-Höcker J. Cytochrome-c-oxidase deficient cardiomyocytes in the human heart--an age-related phenomenon. A histochemical ultracytochemical study. Am J Pathol. 1989 May;134(5):1167–1173. [PMC free article] [PubMed] [Google Scholar]
  35. Neckelmann N., Li K., Wade R. P., Shuster R., Wallace D. C. cDNA sequence of a human skeletal muscle ADP/ATP translocator: lack of a leader peptide, divergence from a fibroblast translocator cDNA, and coevolution with mitochondrial DNA genes. Proc Natl Acad Sci U S A. 1987 Nov;84(21):7580–7584. doi: 10.1073/pnas.84.21.7580. [DOI] [PMC free article] [PubMed] [Google Scholar]
  36. Newman N. J., Lott M. T., Wallace D. C. The clinical characteristics of pedigrees of Leber's hereditary optic neuropathy with the 11778 mutation. Am J Ophthalmol. 1991 Jun 15;111(6):750–762. doi: 10.1016/s0002-9394(14)76784-4. [DOI] [PubMed] [Google Scholar]
  37. Poulton J., Deadman M. E., Gardiner R. M. Duplications of mitochondrial DNA in mitochondrial myopathy. Lancet. 1989 Feb 4;1(8632):236–240. doi: 10.1016/s0140-6736(89)91256-7. [DOI] [PubMed] [Google Scholar]
  38. Richter C., Park J. W., Ames B. N. Normal oxidative damage to mitochondrial and nuclear DNA is extensive. Proc Natl Acad Sci U S A. 1988 Sep;85(17):6465–6467. doi: 10.1073/pnas.85.17.6465. [DOI] [PMC free article] [PubMed] [Google Scholar]
  39. Rosing H. S., Hopkins L. C., Wallace D. C., Epstein C. M., Weidenheim K. Maternally inherited mitochondrial myopathy and myoclonic epilepsy. Ann Neurol. 1985 Mar;17(3):228–237. doi: 10.1002/ana.410170303. [DOI] [PubMed] [Google Scholar]
  40. Rotig A., Colonna M., Bonnefont J. P., Blanche S., Fischer A., Saudubray J. M., Munnich A. Mitochondrial DNA deletion in Pearson's marrow/pancreas syndrome. Lancet. 1989 Apr 22;1(8643):902–903. doi: 10.1016/s0140-6736(89)92897-3. [DOI] [PubMed] [Google Scholar]
  41. Rötig A., Bessis J. L., Romero N., Cormier V., Saudubray J. M., Narcy P., Lenoir G., Rustin P., Munnich A. Maternally inherited duplication of the mitochondrial genome in a syndrome of proximal tubulopathy, diabetes mellitus, and cerebellar ataxia. Am J Hum Genet. 1992 Feb;50(2):364–370. [PMC free article] [PubMed] [Google Scholar]
  42. Shoffner J. M., 4th, Wallace D. C. Oxidative phosphorylation diseases. Disorders of two genomes. Adv Hum Genet. 1990;19:267–330. [PubMed] [Google Scholar]
  43. Shoffner J. M., Lott M. T., Lezza A. M., Seibel P., Ballinger S. W., Wallace D. C. Myoclonic epilepsy and ragged-red fiber disease (MERRF) is associated with a mitochondrial DNA tRNA(Lys) mutation. Cell. 1990 Jun 15;61(6):931–937. doi: 10.1016/0092-8674(90)90059-n. [DOI] [PubMed] [Google Scholar]
  44. Silvestri G., Moraes C. T., Shanske S., Oh S. J., DiMauro S. A new mtDNA mutation in the tRNA(Lys) gene associated with myoclonic epilepsy and ragged-red fibers (MERRF). Am J Hum Genet. 1992 Dec;51(6):1213–1217. [PMC free article] [PubMed] [Google Scholar]
  45. Stepien G., Torroni A., Chung A. B., Hodge J. A., Wallace D. C. Differential expression of adenine nucleotide translocator isoforms in mammalian tissues and during muscle cell differentiation. J Biol Chem. 1992 Jul 25;267(21):14592–14597. [PubMed] [Google Scholar]
  46. Stone E. M., Newman N. J., Miller N. R., Johns D. R., Lott M. T., Wallace D. C. Visual recovery in patients with Leber's hereditary optic neuropathy and the 11778 mutation. J Clin Neuroophthalmol. 1992 Mar;12(1):10–14. [PubMed] [Google Scholar]
  47. Tatuch Y., Christodoulou J., Feigenbaum A., Clarke J. T., Wherret J., Smith C., Rudd N., Petrova-Benedict R., Robinson B. H. Heteroplasmic mtDNA mutation (T----G) at 8993 can cause Leigh disease when the percentage of abnormal mtDNA is high. Am J Hum Genet. 1992 Apr;50(4):852–858. [PMC free article] [PubMed] [Google Scholar]
  48. Trounce I., Byrne E., Marzuki S. Decline in skeletal muscle mitochondrial respiratory chain function: possible factor in ageing. Lancet. 1989 Mar 25;1(8639):637–639. doi: 10.1016/s0140-6736(89)92143-0. [DOI] [PubMed] [Google Scholar]
  49. Wallace D. C. Mitotic segregation of mitochondrial DNAs in human cell hybrids and expression of chloramphenicol resistance. Somat Cell Mol Genet. 1986 Jan;12(1):41–49. doi: 10.1007/BF01560726. [DOI] [PubMed] [Google Scholar]
  50. Wallace D. C., Singh G., Lott M. T., Hodge J. A., Schurr T. G., Lezza A. M., Elsas L. J., 2nd, Nikoskelainen E. K. Mitochondrial DNA mutation associated with Leber's hereditary optic neuropathy. Science. 1988 Dec 9;242(4884):1427–1430. doi: 10.1126/science.3201231. [DOI] [PubMed] [Google Scholar]
  51. Wallace D. C., Ye J. H., Neckelmann S. N., Singh G., Webster K. A., Greenberg B. D. Sequence analysis of cDNAs for the human and bovine ATP synthase beta subunit: mitochondrial DNA genes sustain seventeen times more mutations. Curr Genet. 1987;12(2):81–90. doi: 10.1007/BF00434661. [DOI] [PubMed] [Google Scholar]
  52. Wallace D. C., Zheng X. X., Lott M. T., Shoffner J. M., Hodge J. A., Kelley R. I., Epstein C. M., Hopkins L. C. Familial mitochondrial encephalomyopathy (MERRF): genetic, pathophysiological, and biochemical characterization of a mitochondrial DNA disease. Cell. 1988 Nov 18;55(4):601–610. doi: 10.1016/0092-8674(88)90218-8. [DOI] [PubMed] [Google Scholar]
  53. Webster K. A., Gunning P., Hardeman E., Wallace D. C., Kedes L. Coordinate reciprocal trends in glycolytic and mitochondrial transcript accumulations during the in vitro differentiation of human myoblasts. J Cell Physiol. 1990 Mar;142(3):566–573. doi: 10.1002/jcp.1041420316. [DOI] [PubMed] [Google Scholar]
  54. Weller P. A., Price M., Isenberg H., Edwards Y. H., Jeffreys A. J. Myoglobin expression: early induction and subsequent modulation of myoglobin and myoglobin mRNA during myogenesis. Mol Cell Biol. 1986 Dec;6(12):4539–4547. doi: 10.1128/mcb.6.12.4539. [DOI] [PMC free article] [PubMed] [Google Scholar]
  55. Yen T. C., Chen Y. S., King K. L., Yeh S. H., Wei Y. H. Liver mitochondrial respiratory functions decline with age. Biochem Biophys Res Commun. 1989 Dec 29;165(3):944–1003. doi: 10.1016/0006-291x(89)92701-0. [DOI] [PubMed] [Google Scholar]
  56. Zheng X. X., Shoffner J. M., Voljavec A. S., Wallace D. C. Evaluation of procedures for assaying oxidative phosphorylation enzyme activities in mitochondrial myopathy muscle biopsies. Biochim Biophys Acta. 1990 Aug 9;1019(1):1–10. doi: 10.1016/0005-2728(90)90118-n. [DOI] [PubMed] [Google Scholar]

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