Gene therapy of mitochondrial diseases using human cytoplasts

Gene Therapy

Volumn 4, Issue 1, 1997, Pages 6-10

  Kagawa, Y ^a   Hayashi, J I ^b  

^a JICHI MEDICAL UNIVERSITY   (Japan)

^b UNIVERSITY OF TSUKUBA   (Japan)

Author keywords

Cybrids; Cytoplasts; Heteroplasmy; Homoplasmy; Mitochondrial DNA; Stochastic segregation

Indexed keywords

CYTOCHROME C OXIDASE; MITOCHONDRIAL DNA;

CELL MUTANT; CONTROLLED STUDY; CYTOPLASM; DISORDERS OF MITOCHONDRIAL FUNCTIONS; DNA TRANSFER; ENZYME ACTIVITY; GENE MUTATION; GENE THERAPY; GENETIC DISORDER; HUMAN; HUMAN CELL; PRIORITY JOURNAL; SHORT SURVEY;

EID: 0031018828     PISSN: 09697128     EISSN: None     Source Type: Journal    
DOI: 10.1038/sj.gt.3300347     Document Type: Short Survey

References (28)

1. Wallace DC. Diseases of the mitochondrial DNA. Annu Rev Biochem 1992; 61: 1175-1212.
2. Anderson S et al. Sequence and organization of the human mitochondrial genome. Nature 1981; 290: 457-465.
3. Parisi MA, Clayton DA. Similarity of human mitochondrial transcription factor 1 to high mobility group proteins Science 1991; 252: 965-969.
4. Tominaga K, Hayashi J-I, Kagawa Y, Ohta S. Smaller isoform of human mitochondrial transcription factor 1: its wide distribution and production by alternative splicing. Biochem Biophys Res Commun 1993; 194: 544-551.
5. Ames MK, Shigenaga MK, Hagen TM. Mitochondrial decay in aging. Biochim Biophys Acta 1995; 1271: 165-170.
6. Tritschler H-J, Medori R. Mitochondrial DNA alterations as a source of human disorders. Neurology 1992; 43: 280-288.
7. Leu(UUR) gene in MELAS (mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episodes). Biochem Biophys Res Commun 1990; 173: 816-822.
8. Leu(UUR) gene associated with the MELAS subgroup of mitochondrial encephalomyopathies. Nature 1990; 348: 651-653.
9. tRNA Lvs mutation. Cell 1990; 61: 931-937.
10. Taniike M et al. Mitochondrial tRNA Ile mutation in fatal cardiomyopathy. Biochem Biophys Res Commun 1992; 186: 47-53.
11. Shanske S et al. Widespread tissue distribution of mitochondrial DNA deletions in Kearns-Sayer syndrome. Neurology 1990; 40: 24-28.
12. Otsuka M et al. Marked decrease of mitochondrial DNA with multiple deletions in a patient with familial mitochondrial myopathy. Biochem Biophys Res Commun 1990; 167: 680-685.
13. Leu(UUR) gene in a large pedigree with maternally transmitted type II diabetes mellitus and deafness. Nat Genet 1992; 1: 368-371.
14. Shiraiwa N et al. Content of mutant mitochondrial DNA and organ-dysfunction in a patient with a MELAS-subgroup of mitochondrial encephalomyopathies. J Neurol Sci 1993; 120: 174-179
15. Kawashima S et al. Widespread tissue distribution of multiple mitochondrial DNA deletions in familial mitochondrial myopathy. Muscle Nerve 1994; 17: 741-746.
16. Hayashi J-I et al. Nuclear but not mitochondrial genome involvement in human age-related mitochondrial dysfunction: functional integrity of mitochondrial DNA from aged subjects. J Biol Chem 1994; 269: 6878-6883.
17. Hayashi J-I et al. Functional and morphological abnormalities of mitochondria in human cells containing mitochondrial DNA with pathogenic point mutations in tRNA genes. J Biol Chem 1994; 269: 19060-19066.
18. Hayashi J-I et al. Introduction of disease-related mitochondrial DNA deletions into HeLa cells lacking mitochondrial DNA results in mitochondrial dysfunction. Proc Natl Acad Sci USA 1991; 88: 10614-10618.
19. Kagawa Y. Culture method of cells from patient with mitochondrial encephalomyopathy. In: Kato R, Kagawa Y, Ozawa T, Wada H (eds). New Methods of Biochemistry, vol. 5 Japanese Biochemical Society: Tokyo, 1992; pp 137-145 (in Japanese).
20. Chomyn A et al. In vitro genetic transfer of protein synthesis and respiration defects to mitochondrial DNA-less cells with myopathy-parient mitochondria. Mol Cell Biol 1991; 11: 2236-2244.
21. Hayashi J-I et al. Somatic cell genetical approaches to mitochondrial diseases. Prog Neurobiol 1991; 7: 93-102.
22. Grossman M et al. Successful ex vivo gene therapy directed to liver in a patient with familial hypercholesterolaemia. Nat Genet 1994; 6: 335-341
23. Allsopp RC et al. Telomere length predicts replicative capacity of human fibroblasts. Proc Natl Acad Sci USA 1992; 89: 10114-10118.
24. Koike T et al. Transcription of the MRP RNA gene in frog stage I oocytes requires a novel cis-element. Biochem Biophys Res Commun 1994; 202: 225-233.
25. Ernster L, Luft R, Orrenius S (eds). Nobel Symposium 90, Mitochondrial Diseases. Elsevier: Amsterdam, 1995; pp 1-278.
26. Kaneda H et al. Elimination of paternal mitochondrial DNA in intraspecific crosses during early mouse embryogenesis. Proc Natl Acad Sci USA 1995; 92: 4542-546.
27. Seibel P et al. Transfection of mitochondria: strategy towards a gene therapy of mitochondrial DNA diseases. Nucleic Acids Res 1995; 23: 10-17.
28. Mueller GM et al. Complementation of defective leucine decarboxylation in fibroblasts from a maple syrup urine disease patient by retrovirus-mediated gene transfer. Gene Therapy 1995; 2: 461-468.