Different copy numbers of apparently identically deleted mitochondrial DNA in tissues from a patient with Kearns-Sayre syndrome detected by PCR.

作者: B. Obermaier-Kusser , J. Müller-Höcker , I. Nelson , P. Lestienne , Ch. Enter

DOI: 10.1016/0006-291X(90)91994-4

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摘要: An apparently identical deletion of 4.977 bp in length (position 8,483-13,459) was detectable the mitochondrial DNA from skeletal muscle, heart kidney, and liver a patient with Kearns-Sayre syndrome. The proportion deleted genome varied 60% for muscle to 15% below 5% liver. mtDNA heteroplasmy only after amplification by PCR. In histochemical immunocytochemical findings concerning cytochrome c oxidase were good correlation DNA.

参考文章(27)
BERNHARD KADENBACH, LUCIA KUHN-NENTWIG, URSULA BÜGE, Evolution of a regulatory enzyme: cytochrome-c oxidase (complex IV) Current topics in bioenergetics. ,vol. 15, pp. 113- 161 ,(1987) , 10.1016/B978-0-12-152515-6.50009-6
Anders Oldfors, Russell J. M. Lane, Caroline A. Sewry, Victor Dubowitz, Muscle Biopsy: A Practical Approach ,(2020)
Wataru Sato, Masashi Tanaka, Kinji Ohno, Tomoko Yamamoto, Goro Takada, Takayuki Ozawa, Multiple populations of deleted mitochondrial DNA detected by a novel gene amplification method Biochemical and Biophysical Research Communications. ,vol. 162, pp. 664- 672 ,(1989) , 10.1016/0006-291X(89)92362-0
Patrick Lestienne, Gérard Ponsot, KEARNS-SAYRE SYNDROME WITH MUSCLE MITOCHONDRIAL DNA DELETION The Lancet. ,vol. 331, pp. 885- 885 ,(1988) , 10.1016/S0140-6736(88)91632-7
Jacques Drouin, Cloning of human mitochondrial DNA in Escherichia coli Journal of Molecular Biology. ,vol. 140, pp. 15- 34 ,(1980) , 10.1016/0022-2836(80)90354-X
A Saifuddin Noer, S Marzuki, I Trounce, E Byrne, MTTOCHONDRIAL DNA DELETION IN ENCEPHALOMYOPATHY The Lancet. ,vol. 332, pp. 1253- 1254 ,(1988) , 10.1016/S0140-6736(88)90847-1
Isabelle Nelson, Françoise Degoul, Bert Obermaier-kusser, Norma Romero, Carla Borrone, Cécile Marsac, Jean-Luc Vayssiere, K. Gerbitz, Michel Fardeau, Gérard Ponsot, Patrick Lestienne, Mapping of heteroplasmic mitochondrial DNA deletions in Kearns-Sayre syndrome Nucleic Acids Research. ,vol. 17, pp. 8117- 8124 ,(1989) , 10.1093/NAR/17.20.8117
Luciana Dente, Gianni Cesareni, Riccardo Cortese, pEMBL: a new family of single stranded plasmids Nucleic Acids Research. ,vol. 11, pp. 1645- 1655 ,(1983) , 10.1093/NAR/11.6.1645
M.A Johnson, D.M Turnbull, D.J Dick, H.S.A Sherratt, A partial deficiency of cytochrome c oxidase in chronic progressive external ophthalmoplegia Journal of the Neurological Sciences. ,vol. 60, pp. 31- 53 ,(1983) , 10.1016/0022-510X(83)90125-9
F. X. Kleber, J. -W. Park, G. Hübner, A. Johannes, D. Pongratz, E. König, Congestive heart failure due to mitochondrial cardiomyopathy in Kearns-Sayre syndrome. Journal of Molecular Medicine. ,vol. 65, pp. 480- 486 ,(1987) , 10.1007/BF01712843