Visualization of defective mitochondrial function in skeletal muscle fibers of patients with sporadic amyotrophic lateral sclerosis

Journal of the Neurological Sciences

Volumn 169, Issue 1-2, 1999, Pages 133-139

  Vielhaber, Stefan ^a,b   Winkler, Kirstin ^b   Kirches, Elmar ^c   Kunz, Dagmar ^d   Büchner, Maren ^e   Feistner, Helmut ^b   Elger, Christian E ^a   Ludolph, Albert C ^e   Riepe, Matthias W ^e   Kunz, Wolfram S ^a  

^a UNIVERSITY HOSPITAL BONN   (Germany)

^b UNIVERSITY HOSPITAL MAGDEBURG   (Germany)

^c Orthopad Univ Klin Magdeburg   (Germany)

^d UNIVERSITY HOSPITAL RWTH AACHEN   (Germany)

^e UNIVERSITY HOSPITAL ULM   (Germany)

Author keywords

Amyotrophic lateral sclerosis; Confocal laser scanning microscopy; Mitochondrial function; Oxidative phosphorylation

Indexed keywords

FLAVOPROTEIN; MITOCHONDRIAL DNA; MITOCHONDRIAL ENZYME; REDUCED NICOTINAMIDE ADENINE DINUCLEOTIDE PHOSPHATE;

ADULT; AGED; AMYOTROPHIC LATERAL SCLEROSIS; ARTICLE; CLINICAL ARTICLE; CONFOCAL LASER MICROSCOPY; CONTROLLED STUDY; ENZYME ACTIVITY; FEMALE; HUMAN; HUMAN TISSUE; MALE; MITOCHONDRION; MOTOR NEURON DISEASE; OXIDATIVE PHOSPHORYLATION; PRIORITY JOURNAL; SKELETAL MUSCLE;

ADULT; AGED; AMYOTROPHIC LATERAL SCLEROSIS; FEMALE; HUMANS; MALE; MICROSCOPY, ELECTRON; MIDDLE AGED; MITOCHONDRIA, MUSCLE; MUSCLE FIBERS; MUSCLE, SKELETAL; MUSCULAR ATROPHY, SPINAL; PHOSPHORYLATION; TAY-SACHS DISEASE;

EID: 0032716335     PISSN: 0022510X     EISSN: None     Source Type: Journal    
DOI: 10.1016/S0022-510X(99)00236-1     Document Type: Article

References (25)

1. Emery A.E. Population frequencies of neuromuscular diseases - II. Amyotrophic lateral sclerosis (motor neurone disease). Neuromuscul Disord. 1:1991;323-325.
2. Spencer P.S., Nunn P.B., Hugon J., Ludolph A.C., Ross S.M., Roy D.N., Robertson R.C. Guam amyotrophic lateral sclerosis-parkinsonism-dementia linked to a plant excitant neurotoxin. Science. 237:1987;517-522.
3. Ludolph A.C., Hugon J., Dwivedi M.P., Schaumburg H.H., Spencer P.S. Studies on the aetiology and pathogenesis of motor neuron diseases. 1. Lathyrism: clinical findings in established cases. Brain. 110:1987;149-165.
4. Rothstein J.D., Martin L.J., Kuncl R.W. Decreased glutamate transport by the brain and spinal cord in amyotrophic lateral sclerosis. N. Engl. J. Med. 326:1992;1464-1468.
5. Meyer T., Lenk U., Kuther G., Weindl A., Speer A., Ludolph A.C. Studies of the coding region of the neuronal glutamate transporter gene in amyotrophic lateral sclerosis. Ann. Neurol. 37:1995;817-819.
6. Meyer T., Speer A., Meyer B., Sitte W., Kuther G., Ludolph A.C. The glial glutamate transporter complementary DNA in patients with amyotrophic lateral sclerosis. Ann Neurol. 40:1996;456-459.
7. Beal M.F. Aging, energy and oxidative stress in neurodegenerative diseases. Ann. Neurol. 38:1995;357-366.
8. Bowling A.C., Schulz J.B., Brown Jr R.H., Beal M.F. Superoxide dismutase activity, oxidative damage, and mitochondrial energy metabolism in familiar and sporadic amyotrophic lateral sclerosis. J. Neurochem. 61:1993;2322-2325.
9. Rosen D.R., Siddique T., Patterson D., Figlewicz D.A., Sapp P., et al. Mutations in Cu/Zn superoxide dismutase gene are associated with familiar amyotrophic lateral sclerosis. Nature. 362:1993;62-69.
10. Wong P.C., Pardo C.A., Borchelt D.R., Lee M.K., Copeland N.G., Jenkins N.A., Sisodia S.S., Cleveland D.W., Price D.L. An adverse property of a familiar ALS-linked SOD1 mutation causes motor neuron disease characterized by vacuolar degeneration of mitochondria. Neuron. 14:1995;1105-1116.
11. Chiu A.Y., Zhai P., Dal-Canto M.C., Peters T.M., Kwon Y.W., Prattis S.M., Gurney M.E. Age-dependent penetrance of disease in a transgenic mouse model of familiar amyotrophic lateral sclerosis. Mol. Cell. Neurosci. 6:1995;349-362.
12. Mourelatos Z., Gonatas N.K., Stieber A., Gurney M.E., Dal Canto M.C. The Golgi apparatus of spinal cord motor neurons in transgenic mice expressing mutant Cu,Zn superoxide dismutase becomes fragmented in early preclinical stages of the disease. Proc. Natl. Acad. Sci. USA. 93:1996;5472-5477.
13. Collard J.F., Cote F., Julien J.P. Defective axonal transport in a transgenic mice model of amyotrophic lateral sclerosis. Nature. 375:1995;61-64.
14. Sasaki S., Iwata M. Ultrastructural study of synapses in the anterior horn neurons of patients with amyotrophic lateral sclerosis. Neurosci. Lett. 204:1996;53-56.
15. Comi G.P., Bordoni A., Salani S., Francescina L., Sciacco M., Prelle A., Fortunato F., Zeviani M., Napoli L., Bresolin N., Moggio M., Scarlato G. Cytochrome c oxidase subunit I microdeletion in a patient with motor neuron disease. Ann. Neurol. 43:1998;110-116.
16. Wiedemann F.R., Winkler K., Kuznetsov A.V., Bartels C., Vielhaber S., Feistner H., Kunz W.S. Impairment of mitochondrial function in skeletal muscle of patients with amyotrophic lateral sclerosis. J. Neurol. Sci. 156:1998;65-72.
17. Kuznetsov A.V., Mayboroda O., Kunz D., Winkler K., Schubert W., Kunz W.S. Functional imaging of mitochondria. J. Cell Biol. 140:1998;1091-1099.
18. El Escorial World Federation of Neurology Criteria for the diagnosis of amyotrophic lateral sclerosis. J. Neurol. Sci. 124:(suppl):1994;96-107.
19. Kunz W.S., Kuznetsov A.V., Schulze W., Eichhorn K., Schild L., Striggow F., Bohnensack R., Neuhof S., Grasshoff H., Neumann H.W., Gellerich F.N. Functional characterization of mitochondrial oxidative phosphorylation in saponin-skinned human muscle fibers. Biochim. Biophys. Acta. 1144:1993;46-53.
20. Kunz D., Luley C., Fritz S., Bohnensack R., Kunz W.S., Winkler K., Wallesch C.W. Oxygraphic evaluation of mitochondrial function in digitonin-permeabilized mononuclear cells and cultured skin fibroblasts of patients with chronic progressive external ophthalmoplegia. Biochem. Mol. Med. 54:1995;105-111.
21. Bergmeier HU. Methoden der enzymatischen Analyse. 2. Auflage, Akademie Verlag, Berlin, 1970.
22. Piston D.W., Masters B.R., Webb W.W. Three-dimensionally resolved NAD(P)H cellular metabolic redox imaging of the in situ cornea with two-photon excitation laser scanning microscopy. J. Microsc. 178:1995;20-27.
23. Mayevsky A., Chance B. Intracellular oxidation-reduction state measured in situ by a multichannel fiber-optic surface fluorimeter. Science. 217:1982;537-540.
24. Ambrosio G., Zweier J.L., Duilio C., Kuppusamy P., Santoro G., Elia P.P., Tritto I., Cirillo P., Condorelli M., Chiariello M. Evidence that mitochondrial respiration is a source of potentially toxic oxygen free radicals in intact rabbit hearts subjected to ischemia and reflow. J. Biol. Chem. 268:1993;18532-18541.
25. Wallace D.C. Diseases of the mitochondrial DNA. Annu Rev Biochem. 61:1992;1175-1212.