Myopathic involvement and mitochondrial pathology in Kennedy disease and in other motor neuron diseases

Current Molecular Medicine

Volumn 14, Issue 5, 2014, Pages 598-602

  Orsucci, D ^a   Rocchi, A ^a   Ienco, E Caldarazzo ^a   Ali G ^a   LoGerfo, A ^a   Petrozzi, L ^a   Scarpelli, M ^b   Filosto, M ^c   Carlesi, C ^a   Siciliano, G ^a   Bonuccelli, U ^a   Mancuso, M ^a  

^a UNIVERSITY OF PISA   (Italy)

^b UNIVERSITY OF VERONA   (Italy)

^c UNIVERSITY OF BRESCIA   (Italy)

Author keywords

ALS; AR; Kennedy's disease; Motoneuron disease; MtDNA; Multiple deletions; SBMA; SMA

Indexed keywords

ANDROGEN RECEPTOR; CREATINE KINASE; MITOCHONDRIAL DNA;

AMYOTROPHIC LATERAL SCLEROSIS; ARTICLE; CAG REPEAT; EVOKED MUSCLE RESPONSE; GENE EXPRESSION; GENE MUTATION; HUMAN; KENNEDY DISEASE; MITOCHONDRIAL DYNAMICS; MITOCHONDRIAL GENOME; MITOCHONDRIAL MYOPATHY; NONHUMAN; SATELLITE CELL; SPINAL MUSCULAR ATROPHY; ANIMAL; GENETICS; METABOLISM; MITOCHONDRION; MOTOR NEURON DISEASE; PATHOLOGY; PATHOPHYSIOLOGY;

ANIMALS; BULBO-SPINAL ATROPHY, X-LINKED; DNA, MITOCHONDRIAL; HUMANS; MITOCHONDRIA; MOTOR NEURON DISEASE; RECEPTORS, ANDROGEN;

EID: 84904054416     PISSN: 15665240     EISSN: 18755666     Source Type: Journal    
DOI: 10.2174/1566524014666140603100131     Document Type: Article

References (40)

1. Finsterer J. Perspectives of Kennedy's disease. J Neurol Sci 2010; 298(1-2): 1-10.
2. Hashizume A, Katsuno M, Banno H, et al. Longitudinal changes of outcome measures in spinal and bulbar muscular atrophy. Brain 2012; 135(Pt 9): 2838-48.
3. Rhodes LE, Freeman BK, Auh S, et al. Clinical features of spinal and bulbar muscular atrophy. Brain 2009; 132(Pt 12): 3242-51.
4. Meriggioli MN, Rowin J. Fatigue and abnormal neuromuscular transmission in Kennedy's disease. Muscle Nerve 2003; 27(2): 249-51.
5. Fernandez-Rhodes LE, Kokkinis AD, White MJ, et al. Efficacy and safety of dutasteride in patients with spinal and bulbar muscular atrophy: a randomised placebo-controlled trial. Lancet Neurol 2011; 10(2): 140-7.
6. Beitel LK, Alvarado C, Mokhtar S, Paliouras M, Trifiro M. Mechanisms mediating spinal and bulbar muscular atrophy: investigations into polyglutamine-expanded androgen receptor function and dysfunction. Front Neurol 2013; 4: 53.
7. Vucic S, Kiernan MC. Clarifying variability of corticomotoneuronal function in kennedy disease. Muscle Nerve 2011; 44(2): 197-201.
8. Malik B, Nirmalananthan N, Bilsland LG, et al. Absence of disturbed axonal transport in spinal and bulbar muscular atrophy. Hum Mol Genet 2011; 20(9): 1776-86.
9. Katsuno M, Banno H, Suzuki K, et al. Molecular pathophysiology and disease-modifying therapies for spinal and bulbar muscular atrophy. Arch Neurol 2012; 69(4): 436-40.
10. Jordan CL, Lieberman AP. Spinal and bulbar muscular atrophy: a motoneuron or muscle disease? Curr Opin Pharmacol 2008; 8(6): 752-8.
11. Mancuso M, Orsucci D, Logerfo A, et al. Oxidative stress biomarkers in mitochondrial myopathies, basally and after cysteine donor supplementation. J Neurol 2010; 257(5): 774-81.
12. Mano T, Katsuno M, Banno H, et al. Cross-sectional and longitudinal analysis of an oxidative stress biomarker for spinal and bulbar muscular atrophy. Muscle Nerve 2012; 46(5): 692-7.
13. Jochum T, Ritz ME, Schuster C, et al. Toxic and non-toxic aggregates from the SBMA and normal forms of androgen receptor have distinct oligomeric structures. Biochim Biophys Acta 2012; 1822(6): 1070-8.
14. Ranganathan S, Harmison GG, Meyertholen K, et al. Mitochondrial abnormalities in spinal and bulbar muscular atrophy. Hum Mol Genet 2009; 18(1): 27-42.
15. Mo K, Razak Z, Rao P, et al. Microarray analysis of gene expression by skeletal muscle of three mouse models of Kennedy disease/spinal bulbar muscular atrophy. PLoS One 2010; 5(9): e12922.
16. Yu Z, Dadgar N, Albertelli M, et al. Androgen-dependent pathology demonstrates myopathic contribution to the Kennedy disease phenotype in a mouse knock-in model. J Clin Invest 2006; 116(10): 2663-72.
17. Hamano T, Mutoh T, Hirayama M, et al. Muscle MRI findings of X-linked spinal and bulbar muscular atrophy. J Neurol Sci 2004; 222(1-2): 93-7.
18. Soraru G, D'Ascenzo C, Polo A, et al. Spinal and bulbar muscular atrophy: skeletal muscle pathology in male patients and heterozygous females. J Neurol Sci 2008; 264(1-2): 100-5.
19. Ansved T, Lundin A, Anvret M. Larger CAG expansions in skeletal muscle compared with lymphocytes in Kennedy disease but not in Huntington disease. Neurology 1998; 51(5): 1442-4.
20. Liu CS, Cheng WL, Kuo SJ, et al. Depletion of mitochondrial DNA in leukocytes of patients with poly-Q diseases. J Neurol Sci 2008; 264(1-2): 18-21.
21. Su S, Jou S, Cheng W, et al. Mitochondrial DNA damage in spinal and bulbar muscular atrophy patients and carriers. Clin Chim Acta 2010; 411(9-10): 626-30.
22. Preisler N, Andersen G, Thogersen F, et al. Effect of aerobic training in patients with spinal and bulbar muscular atrophy (Kennedy disease). Neurology 2009; 72(4): 317-23.
23. Acsadi G, Lee I, Li X, et al. Mitochondrial dysfunction in a neural cell model of spinal muscular atrophy. J Neurosci Res 2009; 87(12): 2748-56.
24. Berger A, Mayr JA, Meierhofer D, et al. Severe depletion of mitochondrial DNA in spinal muscular atrophy. Acta Neuropathol 2003; 105(3): 245-51.
25. Mancuso M, Salviati L, Sacconi S, et al. Mitochondrial DNA depletion: mutations in thymidine kinase gene with myopathy and SMA. Neurology 2002; 59(8): 1197-202.
26. Pons R, Andreetta F, Wang CH, et al. Mitochondrial myopathy simulating spinal muscular atrophy. Pediatr Neurol 1996; 15(2): 153-8.
27. Oskoui M, Davidzon G, Pascual J, et al. Clinical spectrum of mitochondrial DNA depletion due to mutations in the thymidine kinase 2 gene. Arch Neurol 2006; 63(8): 1122-6.
28. Tarnopolsky MA, Bourgeois JM, Fu MH, et al. Novel SCO2 mutation (G1521A) presenting as a spinal muscular atrophy type I phenotype. Am J Med Genet A 2004; 125A(3): 310-4.
29. Pronicki M, Kowalski P, Piekutowska-Abramczuk D, et al. A homozygous mutation in the SCO2 gene causes a spinal muscular atrophy like presentation with stridor and respiratory insufficiency. Eur J Paediatr Neurol 2010; 14(3): 253-60.
30. Mancuso M, Filosto M, Orsucci D, Siciliano G. Mitochondrial DNA sequence variation and neurodegeneration. Hum Genomics 2008; 3(1): 71-8.
31. Crugnola V, Lamperti C, Lucchini V, et al. Mitochondrial respiratory chain dysfunction in muscle from patients with amyotrophic lateral sclerosis. Arch Neurol 2010; 67(7): 849-54.
32. Russell AP, Wada S, Vergani L, et al. Disruption of skeletal muscle mitochondrial network genes and miRNAs in amyotrophic lateral sclerosis. Neurobiol Dis 2012; 49C: 107-17.
33. Swerdlow RH, Parks JK, Cassarino DS, et al. Mitochondria in sporadic amyotrophic lateral sclerosis. Exp Neurol 1998; 153(1): 135-42.
34. Gajewski CD, Lin MT, Cudkowicz ME, Beal MF, Manfredi G. Mitochondrial DNA from platelets of sporadic ALS patients restores normal respiratory functions in rho(0) cells. Exp Neurol 2003; 179(2): 229-35.
35. Dhaliwal GK, Grewal RP. Mitochondrial DNA deletion mutation levels are elevated in ALS brains. Neuroreport 2000; 11(11): 2507-9.
36. Ro LS, Lai SL, Chen CM, Chen ST. Deleted 4977-bp mitochondrial DNA mutation is associated with sporadic amyotrophic lateral sclerosis: a hospital-based case-control study. Muscle Nerve 2003; 28(6): 737-43.
37. Comi GP, Bordoni A, Salani S, et al. Cytochrome c oxidase subunit I microdeletion in a patient with motor neuron disease. Ann Neurol 1998; 43(1): 110-6.
38. Kirches E, Winkler K, Vielhaber S, et al. Mitochondrial tRNA(Cys) mutation A5823G in a patient with motor neuron disease and temporal lobe epilepsy. Pathobiology 1999; 67(4): 214-8.
39. Borthwick GM, Taylor RW, Walls TJ, et al. Motor neuron disease in a patient with a mitochondrial tRNAIle mutation. Ann Neurol 2006; 59(3): 570-4.
40. Artuso L, Zoccolella S, Favia P, et al. Mitochondrial genome aberrations in skeletal muscle of patients with motor neuron disease. Amyotroph Lateral Scler Frontotemporal Degener 2013; 14(4): 261-6.