Mitochondrial implications in bulbospinal muscular atrophy (Kennedy disease)

References

• Tanaka F, Kats no M, Banno H, Suzuki K, Adachi H, Sobue G. Current status of treatment of spinal and bulbar muscular atrophy. Neural Plast. 2012;2012:369284. doi: 10.1155/2012/369284.
   PubMed Web of Science ®Google Scholar
• Chanprasert S, Wong LJC, Wang J, Scaglia F. TK2-Related Mitochondrial DNA Depletion Syndrome, Myopathic Form. 2012 Dec 06. In: Pagon RA, Adam MP, AR dinger HH, Bird TD, Dolan CR, Fong CT, Smith RJH, Stephens K, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2014. Available from http://www.ncbi.nlm.nih.gov/books/NBK114628/
   Google Scholar
• Zoccolella S, Artuso L, Capozzo R, Amati A, Guerra F, Simone I, et al. Mitochondrial genome large rearrangements in the skeletal muscle of a patient with PMA. Eur J Neurol. 2012;19:e63–4.
   PubMed Web of Science ®Google Scholar
• Orsucci D, Rocchi A, Caldarazzo Ienco E, Alì G, LoGerfo A, Petrozzi L, et al. Myopathic involvement and mitochondrial pathology in Kennedy disease and in other motor neuron diseases. Curr Mol Med. 2014;14:598–602.
   PubMed Web of Science ®Google Scholar
• Gavrilova-Jordan LP, Price TM. Actions of steroids in mitochondria. Semin Reprod Med. 2007;25:154–64.
   PubMed Web of Science ®Google Scholar
• 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. doi: 10.3389/fneur.2013.00053.
   PubMed Web of Science ®Google Scholar
• Solakidi S, Psarra AM, Nikolaropoulos S, Sekeris CE. Oestrogen receptors alpha and beta (ERalpha and ERbeta) and androgen receptor (AR) in human sperm: localization of ERbeta and AR in mitochondria of the midpiece. Hum Reprod. 2005;20:3481–7.
   PubMed Web of Science ®Google Scholar
• Ranganathan S, Harmison GG, Meyertholen K, Pennuto M, Burnett BG, Fischbeck KH. Mitochondrial abnormalities in spinal and bulbar muscular atrophy. Hum Mol Genet. 2009;18:27–42.
   PubMed Web of Science ®Google Scholar
• Beauchemin AM, Gottlieb B, Beitel LK, Elhaji YA, Pinsky L, Trifiro MA. Cytochrome c oxidase subunit Vb interacts with human androgen receptor: a potential mechanism for neurotoxicity in spinobulbar muscular atrophy. Brain Res Bull. 2001;56:285–97.
   PubMed Web of Science ®Google Scholar
• Wang RS, Chang HY, Kao SH, Kao CH, Wu YC, Yeh S, et al. Abnormal mitochondrial function and impaired granulosa cell differentiation in androgen receptor knockout mice. Int J Mol Sci. 2015;16:9831–49.
   PubMed Web of Science ®Google Scholar
• Usui T, Kajita K, Kajita T, Mori I, Hanamoto T, Ikeda T, et al. Elevated mitochondrial biogenesis in skeletal muscle is associated with testosterone-induced body weight loss in male mice. FEBS Lett. 2014;588:1935–41.
   PubMed Web of Science ®Google Scholar
• Katsuno M, Tanaka F, Adachi H, Banno H, Suzuki K, Watanabe H, Sobue G. Pathogenesis and therapy of spinal and bulbar muscular atrophy (SBMA). Prog Neurobiol. 2012;99:246–56.
   PubMed Web of Science ®Google Scholar
• Ranganathan S, Fischbeck KH. Therapeutic approaches to spinal and bulbar muscular atrophy. Trends Pharmacol Sci. 2010;31:523–7.
   PubMed Web of Science ®Google Scholar
• Mhatre AN, Trifiro MA, Kaufman M, Kazemi-Esfarjani P, Figlewicz D, Rouleau G, Pinsky L. Reduced transcriptional regulatory competence of the androgen receptor in X-linked spinal and bulbar muscular atrophy. Nat Genet. 1993;5:184–8.
   PubMed Web of Science ®Google Scholar
• Kazemi-Esfarjani P, Trifiro MA, Pinsky L. Evidence for a repressive function of the long polyglutamine tract in the human androgen receptor: possible pathogenetic relevance for the (CAG)n-expanded neuronopathies. Hum Mol Genet. 1995;4:523–7.
   PubMed Web of Science ®Google Scholar
• Bellafante E, Morgano A, Salvatore L, Murzilli S, Di Tullio G, D'Orazio A, et al. PGC-1β promotes enterocyte lifespan and tumorigenesis in the intestine. Proc Natl Acad Sci USA. 2014;111:E4523–31.
   PubMed Web of Science ®Google Scholar
• Liu CS, Cheng WL, Kuo SJ, Li JY, Soong BW, Wei YH. Depletion of mitochondrial DNA in leukocytes of patients with poly-Q diseases. J Neurol Sci. 2008;264:18–21.
   PubMed Web of Science ®Google Scholar
• Su S, Jou S, Cheng W, Lin T, Li J, Huang C, et al. Mitochondrial DNA damage in spinal and bulbar muscular atrophy patients and carriers. Clin Chim Acta. 2010;411:626–30.
   PubMed Web of Science ®Google Scholar
• Hayashi M, Miyata R, Tanuma N. Oxidative stress in developmental brain disorders. Adv Exp Med Biol. 2012;724:278–90.
   PubMed Web of Science ®Google Scholar
• Mano T, Katsuno M, Banno H, Suzuki K, Suga N, Hashizume A, et al. Cross-sectional and longitudinal analysis of an oxidative stress biomarker for spinal and bulbar muscular atrophy. Muscle Nerve. 2012;46:692–7.
   PubMed Web of Science ®Google Scholar
• Iida M, Katsuno M, Nakatsuji H, Adachi H, Kondo N, Miyazaki Y, et al. Pioglitazone suppresses neuronal and muscular degeneration caused by polyglutamine-expanded androgen receptors. Hum Mol Genet. 2015;24:314–29.
   PubMed Web of Science ®Google Scholar
• Weber JJ, Sowa AS, Binder T, Hübener J. From pathways to targets: understanding the mechanisms behind polyglutamine disease. Biomed Res Int. 2014;2014:701758.
   PubMed Web of Science ®Google Scholar
• Young JE, Garden GA, Martinez RA, Tanaka F, Sandoval CM, Smith AC, et al. Polyglutamine-expanded androgen receptor truncation fragments activate a Bax-dependent apoptotic cascade mediated by DP5/Hrk. J Neurosci. 2009;29:1987–97.
   PubMed Web of Science ®Google Scholar
• Stenoien DL, Cummings CJ, Adams HP, Mancini MG, Patel K, DeMartino GN, et al. Polyglutamine-expanded androgen receptors form aggregates that sequester heat shock proteins, proteasome components and SRC-1, and are suppressed by the HDJ-2 chaperone. Hum Mol Genet.1999;8:731–41.
   PubMed Web of Science ®Google Scholar
• Piccioni F, Pinton P, Simeoni S, Pozzi P, Fascio U, Vismara G, et al. Androgen receptor with elongated polyglutamine tract forms aggregates that alter axonal trafficking and mitochondrial distribution in motor neuronal processes. FASEB J. 2002;16:1418–20.
   PubMed Web of Science ®Google Scholar
• Brum M, Semedo C, Guerreiro R, Pinto Marques J. Motor Neuron Syndrome as a New Phenotypic Manifestation of Mutation 9185T > C in Gene MTATP6. Case Rep Neurol Med. 2014;2014:701761.
   PubMedGoogle Scholar
• Lee JS, Hwang JS, Ryu KH, Lee EH, Kim SH. Mitochondrial respiratory complex I deficiency simulating spinal muscular atrophy. Pediatr Neurol. 2007;36:45–7.
   PubMed Web of Science ®Google Scholar
• McMillan HJ, Schwartzentruber J, Smith A, Lee S, Chakraborty P, Bulman DE, et al. Compound heterozygous mutations in glycyl-tRNA synthetase are a proposed cause of systemic mitochondrial disease. BMC Med Genet. 2014;15:36.
   PubMed Web of Science ®Google Scholar
• Pronicka E, Piekutowska-Abramczuk D, Szymańska-Dębińska T, Bielecka L, Kowalski P, Luczak S, et al. The natural history of SCO2 deficiency in 36 Polish children confirmed the genotype-phenotype correlation. Mitochondrion. 2013;13:810–16.
   PubMed Web of Science ®Google Scholar
• Ganie SA, Dar T, Bhat A, Dar K, Anees S, Masood A, Zargar MA. Melatonin: a potential antioxidant therapeutic agent for mitochondrial dysfunctions and related disorders. Rejuvenation Res. 2015; (in press).
   Google Scholar
• Sirianni AC, Jiang J, Zeng J, Mao LL, Zhou S, Sugarbaker P, et al. N-acetyl-l-tryptophan, but not N-acetyl-d-tryptophan, rescues neuronal cell death in models of amyotrophic lateral sclerosis. J Neurochem. 2015;134:956–68
   PubMed Web of Science ®Google Scholar
• Ehinger JK, Morota S, Hansson MJ, Paul G, Elmér E. Mitochondrial dysfunction in blood cells from amyotrophic lateral sclerosis patients. J Neurol. 2015;262:1493–503.
   PubMed Web of Science ®Google Scholar
• Fukunaga K, Shinoda Y, Tagashira H. The role of SIGMAR1 gene mutation and mitochondrial dysfunction in amyotrophic lateral sclerosis. J Pharmacol Sci. 2015;127:36–41.
   PubMed Web of Science ®Google Scholar
• Yonutas HM, Pandya JD, Sullivan PG. Changes in mitochondrial bioenergetics in the brain versus spinal cord become more apparent with age. J Bioenerg Biomembr. 2015;47:149–54.
   PubMed Web of Science ®Google Scholar
• Ripolone M, Ronchi D, Violano R, Vallejo D, Fagiolari G, Barca E, et al. Impaired Muscle Mitochondrial Biogenesis and Myogenesis in Spinal Muscular Atrophy. JAMA Neurol. 2015;72:666–75.
   PubMed Web of Science ®Google Scholar
• Katsetos CD, Koutzaki S, Melvin JJ. Mitochondrial dysfunction in neuromuscular disorders. Semin Pediatr Neurol. 2013;20:202–15.
   PubMed Web of Science ®Google Scholar
• Eschbach J, Sinniger J, Bouitbir J, Fergani A, Schlagowski AI, Zoll J, et al. Dynein mutations associated with hereditary motor neuropathies impair mitochondrial morphology and function with age. Neurobiol Dis. 2013;58:220–30.
   PubMed Web of Science ®Google Scholar
• Jordan CL, Lieberman AP. Spinal and bulbar muscular atrophy: a motor neuron or muscle disease? Curr Opin Pharmacol. 2008;8:752–8.
   PubMed Web of Science ®Google Scholar
• Sopher BL, Thomas PS Jr, LaFevre-Bernt MA, Holm IE, Wilke SA, Ware CB, et al. Androgen receptor YAC transgenic mice recapitulate SBMA motor neuronopathy and implicate VEGF164 in the motor neuron degeneration. Neuron. 2004;41:687–99.
   PubMed Web of Science ®Google Scholar
• Monks DA, Johansen JA, Mo K, Rao P, Eagleson B, Yu Z, et al. Overexpression of wild-type androgen receptor in muscle recapitulates polyglutamine disease. Proc Natl Acad Sci U S A. 2007;104:18259–64.
   PubMed Web of Science ®Google Scholar
• Sorarù G, D'Ascenzo C, Polo A, Palmieri A, Baggio L, Vergani L, et al. Spinal and bulbar muscular atrophy: skeletal muscle pathology in male patients and heterozygous females. J Neurol Sci. 2008;264:100–5.
   PubMed Web of Science ®Google Scholar
• Preisler N, Andersen G, Thøgersen F, Crone C, Jeppesen TD, Wibrand F, Vissing J. Effect of aerobic training in patients with spinal and bulbar muscular atrophy (Kennedy disease). Neurology. 2009;72:317–23.
   PubMed Web of Science ®Google Scholar
• Fischbeck KH. Developing treatment for spinal and bulbar muscular atrophy. Prog Neurobiol. 2012;99:257–61.
   PubMed Web of Science ®Google Scholar
• Trushina E, McMurray CT. Oxidative stress and mitochondrial dysfunction in neurodegenerative diseases. Neuroscience. 2007;145:1233–48.
   PubMed Web of Science ®Google Scholar
• Di Filippo M, Chiasserini D, Tozzi A, Picconi B, Calabresi P. Mitochondria and the link between neuroinflammation and neurodegeneration. J Alzheimers Dis. 2010;20 (Suppl 2):S369–79.
   PubMedGoogle Scholar
• Katsuno M, Banno H, Suzuki K, Adachi H, Tanaka F, Sobue G. Molecular pathophysiology and disease-modifying therapies for spinal and bulbar muscular atrophy. Arch Neurol. 2012;69:436–40.
   PubMed Web of Science ®Google Scholar