Evidence of apoptosis via TUNEL staining in muscle biopsy from patients with mitochondrial encephaloneuromyopathies

Journal of Submicroscopic Cytology and Pathology

Volumn 35, Issue 1, 2003, Pages 29-34

  Formichi, P ^a   Battisti, C ^a   Bianchi, S ^a   Cardaioli, E ^a   Federico, A ^a,b  

^a UNIVERSITY OF SIENA   (Italy)

^b UNIVERSITY HOSPITAL OF SIENA   (Italy)

Author keywords

Apoptosis; Mitochondrial encephaloneuromyopathies

Indexed keywords

APOPTOSIS; ARTICLE; CONTROLLED STUDY; HUMAN; HUMAN TISSUE; IN VITRO STUDY; MITOCHONDRIAL ENCEPHALOMYOPATHY; MUSCLE BIOPSY; NICK END LABELING; NUCLEOTIDE SEQUENCE; ADULT; AGED; BIOPSY; FEMALE; GENETICS; MALE; MIDDLE AGED; MUTATION; PATHOLOGY; SKELETAL MUSCLE;

BIOLOGICAL MARKER; DNA FRAGMENT; MITOCHONDRIAL DNA;

ADULT; AGED; APOPTOSIS; BIOLOGICAL MARKERS; BIOPSY; DNA FRAGMENTATION; DNA, MITOCHONDRIAL; FEMALE; HUMANS; IN SITU NICK-END LABELING; MALE; MIDDLE AGED; MITOCHONDRIAL ENCEPHALOMYOPATHIES; MUSCLE, SKELETAL; MUTATION;

EID: 0642333824     PISSN: 11229497     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Article

References (23)

1. BATTISTI C., FORMICHI P., TRIPODI S.A., MORBINI G., TOSI P. and FEDERICO A., 2000. Enhanced 2-deoxy-D-ribose-induced-apoptosis, a phenotype of lymphocytes from old donors, is not observed in the Werner syndrome. Exp. Gerontol., 35, 605-612.
2. DI GIOVANNI S., MIRABELLA M., PAPACCI M., ODOARDI F., SILVESTRI G. and SERVIDEI S., 2001. Apoptosis and ROS detoxification enzymes correlate with cytochrome c oxidase deficiency in mitochondrial encephalomyopathies. Mol. Cell. Neurosci., 17, 696-705.
3. DI MAURO S. and BONILLA E., 1997. Mitochondrial encephalomyopathies. In: 'The Molecular and Genetic Basis of Neurological Disease'. Rosemberg R.N., Prusiner S.B., Di Mauro S. and Barchi R.L. eds., 2nd ed., Butterworth-Heinemann, Boston, pp. 201-235.
4. DI MAURO S., BONILLA E., DAVIDSON M., HIRANO M. and SHON E.A., 1998. Mitochondria in neuromuscular disorders. Biochim. Biophys. Acta, 1366, 199-210.
5. FORMICHI P., BATTISTI C., TRIPODI S.A., TOSI P. and FEDERICO A., 1999. Apoptotic response and cell cycle transition in ataxia telangiectasia cells exposed to oxidative stress. Life Sci., 66, 1893-1903.
6. GAVRIELI Y., SHERMAN Y. and BEN-SASSON S.A., 1992. Identification of programmed cell death in situ via specific labelling of nuclear DNA fragmentation. J. Cell. Biol., 119, 493-501.
7. GOTO Y., 2001. Clinical and molecular studies of mitochondrial disease. J. Inherit. Metab. Dis., 24, 181-188.
8. GRANVILLE D.J., CARTHY C.M., HUNT D.W. and MCMANUS B.M., 1998. Apoptosis: molecular aspects of cell death and disease. Lab. Invest., 78 (8), 893-913.
9. GRANVILLE D.J., CASSIDY B.A., RUEHLMANN D.O., CHOY J.C., BRENNER C., KROEMER G., VAN BREEMEN C., MARGARON P., HUNT D.W. and MCMANUS B.M., 2001. Mitochondrial release of apoptosis-inducing factor and cytochrome c during smooth muscle cell apoptosis. Am. J. Pathol., 159 (1), 305-311.
10. GREEN D.R. and REED J.C., 1998. Mitochondria and apoptosis. Science, 281, 1309-1316.
11. KROEMER G. and REED J.C., 2000. Mitochondrial control of cell death. Nat. Med., 6, 513-519.
12. HETTS S.W., 1998. To die or not to die. An overview of apoptosis and its role in disease. JAMA, 279, 300-307.
13. HOCKENBERY D., 1995. Defining apoptosis. Am. J. Pathol., 146, 16-19.
14. LEONARD J.V. and SHAPIRA A.H., 2000. Mitochondrial respiratory chain disorders I: neurodegenerative disorders and nuclear gene defects. Lancet, 355, 299-304.
15. MIRABELLA M., DI GIOVANNI S., SILVESTRI G., TONALI P. and SERVIDEI S., 2000. Apoptosis in mitochondrial encephalomyopathies with mitochondrial DNA mutations: a potential pathogenic mechanism. Brain, 123, 93-104.
16. MONICI M.C., TOSCANO A., GIRLANDA P., AGUENNOUZ M., MUSUMECI O. and VITA G., 1998. Apoptosis in metabolic myopathies. Neuroreport, 9, 2431-2435.
17. MORGAN-HUGHES A.J., SWEENEY M.G., COOPER J.M., HAMMANS S.R., BROCKINGTON M., SHAPIRA A.H.V., HARDING A.E. and CLARK J.B., 1995. Mitochondrial DNA (mtDNA) disease: correlation of genotype. Biochem. Biophys. Acta, 1271, 135-140.
18. NAVIAUX R.K., 2000. Mitochondrial DNA disorders. Eur. J. Pediatr., 159 (3), S219-S226.
19. ORTH M. and SHAPIRA A.H.V., 2001. Mitochondria and degenerative disorders. Am. J. Med. Gen., 106, 27-36.
20. PULKES T. and HANNA M.G., 2001. Human mitochondrial DNA diseases. Adv. Drug. Del. Rev., 49, 27-43.
21. SCIACCO M., FAGIOLARI G., LAMPERTI C., MESSINA S., BAZZI P., NAPOLI L., CHIVERI L., PRELLE A., COMI G.P., BRESOLIN N., SCARLATO G. and MOGGIO M., 2001. Lack of apoptosis in mitochondrial encephalomyopathies. Neurology, 56, 1070-1074.
22. WALLACE D.C., 1992. Disease of the mitochondrial DNA. Annu. Rev. Biochem., 61, 1175-1212.
23. ZEVIANI M., AMATI P., BRESOLIN N., ANTOZZI C., PICCOLO G., TOSCANO A. and DI DONATO S., 1991. Rapid detection of the A→G(8344) mutation of the mtDNA in Italian families with myoclonus epilepsy and ragged-red fibers (MERRF). Am. J. Hum. Genet., 48, 203-211.