메뉴 건너뛰기




Volumn 9, Issue 2, 2012, Pages 446-463

Recovery of MERRF Fibroblasts and Cybrids Pathophysiology by Coenzyme Q10

Author keywords

Coenzyme Q10; MERRF; Mitochondrial disease; Mitophagy

Indexed keywords

BECLIN 1; BETA GALACTOSIDASE; CATHEPSIN D; CYTOCHROME C; MITOCHONDRIAL DNA; MITOCHONDRIAL PROTEIN; REACTIVE OXYGEN METABOLITE; UBIDECARENONE;

EID: 84859700290     PISSN: 19337213     EISSN: 18787479     Source Type: Journal    
DOI: 10.1007/s13311-012-0103-3     Document Type: Article
Times cited : (45)

References (33)
  • 1
    • 0028574053 scopus 로고
    • Mitochondrial DNA sequence variation in human evolution and disease
    • doi:8739
    • Wallace DC. Mitochondrial DNA sequence variation in human evolution and disease. Proc Natl Acad Sci U S A 1994; 91: 8739-8746.
    • (1994) Proc Natl Acad Sci U S A , vol.91 , pp. 8739-8746
    • Wallace, D.C.1
  • 2
    • 0025368281 scopus 로고
    • Myoclonic epilepsy and ragged-red fiber disease (MERRF) is associated with a mitochondrial DNA tRNA(Lys) mutation
    • Shoffner JM, Lott MT, Lezza AM, et al. Myoclonic epilepsy and ragged-red fiber disease (MERRF) is associated with a mitochondrial DNA tRNA(Lys) mutation. Cell 1990; 61: 931-937.
    • (1990) Cell , vol.61 , pp. 931-937
    • Shoffner, J.M.1    Lott, M.T.2    Lezza, A.M.3
  • 3
    • 63749113046 scopus 로고    scopus 로고
    • Demyelinating disease of central and peripheral nervous systems associated with a A8344G mutation in tRNALys
    • Erol I, Alehan F, Horvath R, et al. Demyelinating disease of central and peripheral nervous systems associated with a A8344G mutation in tRNALys. Neuromuscul Disord 2009; 19: 275-278.
    • (2009) Neuromuscul Disord , vol.19 , pp. 275-278
    • Erol, I.1    Alehan, F.2    Horvath, R.3
  • 4
    • 0024163051 scopus 로고
    • Familial mitochondrial encephalomyopathy (MERRF): genetic, pathophysiological, and biochemical characterization of a mitochondrial DNA disease
    • Wallace DC, Zheng XX, Lott MT, et al. Familial mitochondrial encephalomyopathy (MERRF): genetic, pathophysiological, and biochemical characterization of a mitochondrial DNA disease. Cell 1988; 55: 601-610.
    • (1988) Cell , vol.55 , pp. 601-610
    • Wallace, D.C.1    Zheng, X.X.2    Lott, M.T.3
  • 5
    • 0028811504 scopus 로고
    • The 8,344 mutation in mitochondrial DNA: a comparison between the proportion of mutant DNA and clinico-pathologic findings
    • Ozawa M, Goto Y, Sakuta R, et al. The 8, 344 mutation in mitochondrial DNA: a comparison between the proportion of mutant DNA and clinico-pathologic findings. Neuromuscul Disord 1995; 5: 483-488.
    • (1995) Neuromuscul Disord , vol.5 , pp. 483-488
    • Ozawa, M.1    Goto, Y.2    Sakuta, R.3
  • 6
    • 62449282253 scopus 로고    scopus 로고
    • A new mitochondrial transfer RNAPro gene mutation associated with myoclonic epilepsy with ragged-red fibers and other neurological features
    • Blakely EL, Trip SA, Swalwell H, et al. A new mitochondrial transfer RNAPro gene mutation associated with myoclonic epilepsy with ragged-red fibers and other neurological features. Arch Neurol 2009; 66: 399-402.
    • (2009) Arch Neurol , vol.66 , pp. 399-402
    • Blakely, E.L.1    Trip, S.A.2    Swalwell, H.3
  • 7
    • 67349196844 scopus 로고    scopus 로고
    • Mitochondrial DNA G8363A mutation in the tRNA Lys gene: clinical, biochemical and pathological study
    • Virgilio R, Ronchi D, Bordoni A, et al. Mitochondrial DNA G8363A mutation in the tRNA Lys gene: clinical, biochemical and pathological study. J Neurol Sci 2009; 281: 85-92.
    • (2009) J Neurol Sci , vol.281 , pp. 85-92
    • Virgilio, R.1    Ronchi, D.2    Bordoni, A.3
  • 8
    • 0027288377 scopus 로고
    • The mitochondrial DNA transfer RNA(Lys)A- & G(8344) mutation and the syndrome of myoclonic epilepsy with ragged red fibers (MERRF). Relationship of Clinical Phenotype to Proportion of Mutant Mitochondrial DNA
    • Hammans SR, Sweeney MG, Brockington M, et al. The mitochondrial DNA transfer RNA(Lys)A-- & G(8344) mutation and the syndrome of myoclonic epilepsy with ragged red fibers (MERRF). Relationship of clinical phenotype to proportion of mutant mitochondrial DNA. Brain 1993; 116(pt 3): 617-632.
    • (1993) Brain , vol.116 , Issue.pt 3 , pp. 617-632
    • Hammans, S.R.1    Sweeney, M.G.2    Brockington, M.3
  • 9
    • 0029059067 scopus 로고
    • MtDNA mutation in MERRF syndrome causes defective aminoacylation of tRNA(Lys) and premature translation termination
    • Enriquez JA, Chomyn A, Attardi G. MtDNA mutation in MERRF syndrome causes defective aminoacylation of tRNA(Lys) and premature translation termination. Nat Genet 1995; 10: 47-55.
    • (1995) Nat Genet , vol.10 , pp. 47-55
    • Enriquez, J.A.1    Chomyn, A.2    Attardi, G.3
  • 10
    • 0033968067 scopus 로고    scopus 로고
    • Defect in modification at the anticodon wobble nucleotide of mitochondrial tRNA(Lys) with the MERRF encephalomyopathy pathogenic mutation
    • Yasukawa T, Suzuki T, Ishii N, et al. Defect in modification at the anticodon wobble nucleotide of mitochondrial tRNA(Lys) with the MERRF encephalomyopathy pathogenic mutation. FEBS Lett 2000; 467: 175-178.
    • (2000) FEBS Lett , vol.467 , pp. 175-178
    • Yasukawa, T.1    Suzuki, T.2    Ishii, N.3
  • 11
    • 0033556240 scopus 로고    scopus 로고
    • Decreased ATP synthesis is phenotypically expressed during increased energy demand in fibroblasts containing mitochondrial tRNA mutations
    • James AM, Sheard PW, Wei YH, et al. Decreased ATP synthesis is phenotypically expressed during increased energy demand in fibroblasts containing mitochondrial tRNA mutations. Eur J Biochem 1999; 259: 462-469.
    • (1999) Eur J Biochem , vol.259 , pp. 462-469
    • James, A.M.1    Sheard, P.W.2    Wei, Y.H.3
  • 12
    • 0029790507 scopus 로고    scopus 로고
    • Altered mitochondrial function in fibroblasts containing MELAS or MERRF mitochondrial DNA mutations
    • James AM, Wei YH, Pang CY, et al. Altered mitochondrial function in fibroblasts containing MELAS or MERRF mitochondrial DNA mutations. Biochem J 1996; 318(pt 2): 401-407.
    • (1996) Biochem J , vol.318 , Issue.pt 2 , pp. 401-407
    • James, A.M.1    Wei, Y.H.2    Pang, C.Y.3
  • 13
    • 0025968499 scopus 로고
    • In vitro genetic transfer of protein synthesis and respiration defects to mitochondrial DNA-less cells with myopathy-patient mitochondria
    • Chomyn A, Meola G, Bresolin N, et al. In vitro genetic transfer of protein synthesis and respiration defects to mitochondrial DNA-less cells with myopathy-patient mitochondria. Mol Cell Biol 1991; 11: 2236-2244.
    • (1991) Mol Cell Biol , vol.11 , pp. 2236-2244
    • Chomyn, A.1    Meola, G.2    Bresolin, N.3
  • 14
    • 0026621445 scopus 로고
    • Distribution and threshold expression of the tRNA(Lys) mutation in skeletal muscle of patients with myoclonic epilepsy and ragged-red fibers (MERRF)
    • Boulet L, Karpati G, Shoubridge EA. Distribution and threshold expression of the tRNA(Lys) mutation in skeletal muscle of patients with myoclonic epilepsy and ragged-red fibers (MERRF). Am J Hum Genet 1992; 51: 1187-1200.
    • (1992) Am J Hum Genet , vol.51 , pp. 1187-1200
    • Boulet, L.1    Karpati, G.2    Shoubridge, E.A.3
  • 15
    • 77955089549 scopus 로고    scopus 로고
    • Mitochondrial DNA mutation-elicited oxidative stress, oxidative damage, and altered gene expression in cultured cells of patients with MERRF syndrome
    • Wu SB, Ma YS, Wu YT, et al. Mitochondrial DNA mutation-elicited oxidative stress, oxidative damage, and altered gene expression in cultured cells of patients with MERRF syndrome. Mol Neurobiol 2010; 41: 256-266.
    • (2010) Mol Neurobiol , vol.41 , pp. 256-266
    • Wu, S.B.1    Ma, Y.S.2    Wu, Y.T.3
  • 16
    • 31544480133 scopus 로고    scopus 로고
    • A mutation in para-hydroxybenzoate-polyprenyl transferase (COQ2) causes primary coenzyme Q10 deficiency
    • Quinzii C, Naini A, Salviati L, et al. A mutation in para-hydroxybenzoate-polyprenyl transferase (COQ2) causes primary coenzyme Q10 deficiency. Am J Hum Genet 2006; 78: 345-349.
    • (2006) Am J Hum Genet , vol.78 , pp. 345-349
    • Quinzii, C.1    Naini, A.2    Salviati, L.3
  • 17
    • 0024448458 scopus 로고
    • Human cells lacking mtDNA: repopulation with exogenous mitochondria by complementation
    • King MP, Attardi G. Human cells lacking mtDNA: repopulation with exogenous mitochondria by complementation. Science 1989; 246: 500-503.
    • (1989) Sci Dig (NY) , vol.246 , pp. 500-503
    • King, M.P.1    Attardi, G.2
  • 18
    • 0027931039 scopus 로고
    • Biochemical and molecular investigations in respiratory chain deficiencies
    • Rustin P, Chretien D, Bourgeron T, et al. Biochemical and molecular investigations in respiratory chain deficiencies. Clin Chim Acta 1994; 228: 35-51.
    • (1994) Clin Chim Acta , vol.228 , pp. 35-51
    • Rustin, P.1    Chretien, D.2    Bourgeron, T.3
  • 19
    • 71849104860 scopus 로고
    • Protein measurement with the Folin phenol reagent
    • Lowry OH, Rosebrough NJ, Farr AL, et al. Protein measurement with the Folin phenol reagent. J Biol Chem 1951; 193: 265-275.
    • (1951) J Biol Chem , vol.193 , pp. 265-275
    • Lowry, O.H.1    Rosebrough, N.J.2    Farr, A.L.3
  • 20
    • 58149376131 scopus 로고    scopus 로고
    • Coenzyme Q deficiency triggers mitochondria degradation by mitophagy
    • Rodriguez-Hernandez A, Cordero MD, Salviati L, et al. Coenzyme Q deficiency triggers mitochondria degradation by mitophagy. Autophagy 2009; 5: 19-32.
    • (2009) Autophagy , vol.5 , pp. 19-32
    • Rodriguez-Hernandez, A.1    Cordero, M.D.2    Salviati, L.3
  • 21
    • 33646946746 scopus 로고    scopus 로고
    • Senescence-associated beta-galactosidase is lysosomal beta-galactosidase
    • Lee BY, Han JA, Im JS, et al. Senescence-associated beta-galactosidase is lysosomal beta-galactosidase. Aging Cell 2006; 5: 187-195.
    • (2006) Aging Cell , vol.5 , pp. 187-195
    • Lee, B.Y.1    Han, J.A.2    Im, J.S.3
  • 22
    • 74249105071 scopus 로고    scopus 로고
    • Coenzyme Q10 is frequently reduced in muscle of patients with mitochondrial myopathy
    • Sacconi S, Trevisson E, Salviati L, et al. Coenzyme Q10 is frequently reduced in muscle of patients with mitochondrial myopathy. Neuromuscul Disord 2010; 20: 44-48.
    • (2010) Neuromuscul Disord , vol.20 , pp. 44-48
    • Sacconi, S.1    Trevisson, E.2    Salviati, L.3
  • 23
    • 0030613796 scopus 로고    scopus 로고
    • Bcl-xL regulates the membrane potential and volume homeostasis of mitochondria
    • Vander Heiden MG, Chandel NS, Williamson EK, et al. Bcl-xL regulates the membrane potential and volume homeostasis of mitochondria. Cell 1997; 91: 627-637.
    • (1997) Cell , vol.91 , pp. 627-637
    • Vander Heiden, M.G.1    Chandel, N.S.2    Williamson, E.K.3
  • 24
    • 34247186472 scopus 로고    scopus 로고
    • Reactive oxygen species are essential for autophagy and specifically regulate the activity of Atg4
    • Scherz-Shouval R, Shvets E, Fass E, et al. Reactive oxygen species are essential for autophagy and specifically regulate the activity of Atg4. EMBO J 2007; 26: 1749-1760.
    • (2007) EMBO J , vol.26 , pp. 1749-1760
    • Scherz-Shouval, R.1    Shvets, E.2    Fass, E.3
  • 26
    • 77649282583 scopus 로고    scopus 로고
    • Mitochondrial dysfunction and mitophagy activation in blood mononuclear cells of fibromyalgia patients: implications in the pathogenesis of the disease
    • Cordero MD, De Miguel M, Moreno Fernandez AM, et al. Mitochondrial dysfunction and mitophagy activation in blood mononuclear cells of fibromyalgia patients: implications in the pathogenesis of the disease. Arthritis Res Ther 2010; 12: R17.
    • (2010) Arthritis Res Ther , vol.12
    • Cordero, M.D.1    de Miguel, M.2    Moreno Fernandez, A.M.3
  • 27
    • 59649089784 scopus 로고    scopus 로고
    • Coenzyme q10: is there a clinical role and a case for measurement?
    • Molyneux SL, Young JM, Florkowski CM, et al. Coenzyme Q10: is there a clinical role and a case for measurement? Clin Biochem Rev 2008; 29(2): 71-82.
    • (2008) Clin Biochem Rev , vol.29 , pp. 71-82
    • Molyneux, S.L.1    Young, J.M.2    Florkowski, C.M.3
  • 28
    • 1542467765 scopus 로고    scopus 로고
    • The coenzyme Q10 analog decylubiquinone inhibits the redox-activated mitochondrial permeability transition: role of mitcohondrial [correction mitochondrial] complex III
    • Armstrong JS, Whiteman M, Rose P, et al. The coenzyme Q10 analog decylubiquinone inhibits the redox-activated mitochondrial permeability transition: role of mitcohondrial [correction mitochondrial] complex III. J Biol Chem 2003; 278: 49079-49084.
    • (2003) J Biol Chem , vol.278 , pp. 49079-49084
    • Armstrong, J.S.1    Whiteman, M.2    Rose, P.3
  • 29
    • 80051675804 scopus 로고    scopus 로고
    • Secondary coenzyme Q10 deficiency triggers mitochondria degradation by mitophagy in MELAS fibroblasts
    • Cotan D, Cordero MD, Garrido-Maraver J, et al. Secondary coenzyme Q10 deficiency triggers mitochondria degradation by mitophagy in MELAS fibroblasts. FASEB J 2011; 25: 2669-2687.
    • (2011) FASEB J , vol.25 , pp. 2669-2687
    • Cotan, D.1    Cordero, M.D.2    Garrido-Maraver, J.3
  • 31
    • 26444582983 scopus 로고    scopus 로고
    • Genetic dissection of the permeability transition pore
    • Forte M, Bernardi P. Genetic dissection of the permeability transition pore. J Bioenerg Biomembr 2005; 37: 121-128.
    • (2005) J Bioenerg Biomembr , vol.37 , pp. 121-128
    • Forte, M.1    Bernardi, P.2
  • 32
    • 0029116916 scopus 로고
    • The mitochondrial permeability transition
    • Zoratti M, Szabo I. The mitochondrial permeability transition. Biochim Biophys Acta 1995; 1241: 139-176.
    • (1995) Biochim Biophys Acta , vol.1241 , pp. 139-176
    • Zoratti, M.1    Szabo, I.2
  • 33
    • 75949130828 scopus 로고    scopus 로고
    • PINK1/Parkin-mediated mitophagy is dependent on VDAC1 and p62/SQSTM1
    • Geisler S, Holmstrom KM, Skujat D, et al. PINK1/Parkin-mediated mitophagy is dependent on VDAC1 and p62/SQSTM1. Nat Cell Biol 2010; 12: 119-131.
    • (2010) Nat Cell Biol , vol.12 , pp. 119-131
    • Geisler, S.1    Holmstrom, K.M.2    Skujat, D.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.