New phenotypic diversity associated with the mitochondrial tRNASer(UCN) gene mutation
作者： T. Pulkes , D. Liolitsa , L.H. Eunson , M. Rose , I.P. Nelson
DOI: 10.1016/J.NMD.2005.01.006
关键词:
摘要: We performed detailed clinical, histopathological, biochemical, in vitro translation and molecular genetic analysis patients from two unrelated families harbouring the tRNA(SerUCN) 7472C-insertion mutation. Proband 1 developed a progressive neurodegenerative phenotype characterised by myoclonus, epilepsy, cerebellar ataxia hearing loss. 2 had comparatively benign isolated myopathy with exercise intolerance. Both mutation identical proportions they exhibited similar muscle biochemical histopathological phenotype. However, proband also previously unreported homoplasmic A to C transition at nucleotide position 7472 gene. This change lengthens further homopolymeric run already expanded 7472C-insertion. These data extend phenotypic range associated include skeletal myopathy, as well MERRF-like
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sci-hub.se 参考文章(24)
M P King, Y Koga, M Davidson, E A Schon, Defects in mitochondrial protein synthesis and respiratory chain activity segregate with the tRNA(Leu(UUR)) mutation associated with mitochondrial myopathy, encephalopathy, lactic acidosis, and strokelike episodes. Molecular and Cellular Biology. ,vol. 12, pp. 480- 490 ,(1992) , 10.1128/MCB.12.2.480
S. R. Hammans, M. G. Sweeney, M. G. Hanna, M. Brockington, J. A. Morgan-Hughes, A. E. Harding, The mitochondrial DNA transfer RNALeu(UUR) A-->G(3243) mutation. A clinical and genetic study. Brain. ,vol. 118, pp. 721- 734 ,(1995) , 10.1093/BRAIN/118.3.721
Michael Sjöström, Karl-Axel Ängquist, Ann-Christin Bylund, Jan Fridén, Lennart Gustavsson, Tore Scherstén, Morphometric analyses of human muscle fiber types Muscle & Nerve. ,vol. 5, pp. 538- 553 ,(1982) , 10.1002/MUS.880050708
D Barlow, J Poulton, D R Marchington, G M Hartshorne, Homopolymeric tract heteroplasmy in mtDNA from tissues and single oocytes: support for a genetic bottleneck. American Journal of Human Genetics. ,vol. 60, pp. 408- 416 ,(1997)
S. R. Hammans, M. G. Sweeney, M. Brockington, G. G. Lennox, N. F. Lawton, C. R. Kennedy, J. A. Morgan-Hughes, A. E. Harding, The mitochondrial DNA transfer RNA (Lys) A->G (8344) mutation and the syndrome of myoclonic epilepsy with ragged red fibres (MERRF). Relationship of clinical phenotype to proportion of mutant mitochondrial DNA Brain. ,vol. 116, pp. 617- 632 ,(1993) , 10.1093/BRAIN/116.3.617
Kristien Verhoeven, Robbert JH Ensink, Valeria Tiranti, Patrick LM Huygen, David F Johnson, Isabelle Schatteman, Lut Van Laer, Margriet Verstreken, Paul Van de Heyning, Nathan Fischel-Ghodsian, Massimo Zeviani, Cor WRJ Cremers, Patrick J Willems, Guy Van Camp, Hearing impairment and neurological dysfunction associated with a mutation in the mitochondrial tRNA Ser(UCN) gene European Journal of Human Genetics. ,vol. 7, pp. 45- 51 ,(1999) , 10.1038/SJ.EJHG.5200247
M Sjöström, S Kidman, K H Larsén, K A Angquist, Z- and M-band appearance in different histochemically defined types of human skeletal muscle fibers. Journal of Histochemistry and Cytochemistry. ,vol. 30, pp. 1- 11 ,(1982) , 10.1177/30.1.7054271
T Pulkes, M.G Hanna, Human mitochondrial DNA diseases Advanced Drug Delivery Reviews. ,vol. 49, pp. 27- 43 ,(2001) , 10.1016/S0169-409X(01)00124-7
M. G. Hanna, I. P. Nelson, Genetics and molecular pathogenesis of mitochondrial respiratory chain diseases Cellular and Molecular Life Sciences. ,vol. 55, pp. 691- 706 ,(1999) , 10.1007/S000180050327
M.G. Sweeney, S.R. Hammans, L.W. Duchen, J.M. Cooper, A.H.V. Schapira, C.R. Kennedy, J.M. Jacobs, B.D. Youl, J.A. Morgan-Hughes, A.E. Harding, Mitochondrial DNA mutation underlying Leigh's syndrome: Clinical, pathological, biochemical, and genetic studies of a patient presenting with progressive myoclonic epilepsy Journal of the Neurological Sciences. ,vol. 121, pp. 57- 65 ,(1994) , 10.1016/0022-510X(94)90157-0