Literature DB >> 18314141

A novel tRNA(Val) mitochondrial DNA mutation causing MELAS.

Kurenai Tanji1, Petra Kaufmann, Ali B Naini, Jiesheng Lu, Timothy C Parsons, Dong Wang, Joshua Z Willey, Sara Shanske, Michio Hirano, Eduardo Bonilla, Alexander Khandji, Salvatore Dimauro, Lewis P Rowland.   

Abstract

Mitochondrial encephalopathy, lactic acidosis and stroke-like episodes (MELAS) is the most common mitochondrial disease due to mitochondrial DNA (mtDNA) mutations. At least 15 distinct mtDNA mutations have been associated with MELAS, and about 80% of the cases are caused by the A3243G tRNA(Leu(UUR)) gene mutation. We report here a novel tRNA(Val) mutation in a 37-year-old woman with manifestations of MELAS, and compare her clinicopathological phenotype with other rare cases associated tRNA(Val) mutations.

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Year:  2008        PMID： 18314141      PMCID： PMC6195319          DOI： 10.1016/j.jns.2008.01.016

Source DB:  PubMed          Journal:  J Neurol Sci        ISSN： 0022-510X            Impact factor:   3.181


  22 in total

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7.  A novel mutation in the mitochondrial tRNA(Val) gene associated with a complex neurological presentation.

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Journal:  J Neurol Sci       Date:  2004-10-15       Impact factor: 3.181
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  8 in total

Review 1.  Genetics of stroke.

Authors:  Jin-min Guo; Ai-jun Liu; Ding-feng Su
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Authors:  Dasmanthie De Silva; Ya-Ting Tu; Alexey Amunts; Flavia Fontanesi; Antoni Barrientos
Journal:  Cell Cycle       Date:  2015-06-01       Impact factor: 4.534

3.  A novel mutation in the tRNAIle gene (MTTI) affecting the variable loop in a patient with chronic progressive external ophthalmoplegia (CPEO).

Authors:  Andres Berardo; Jorida Coku; Bulent Kurt; Salvatore DiMauro; Michio Hirano
Journal:  Neuromuscul Disord       Date:  2010-02-10       Impact factor: 4.296

4.  The nuclear background influences the penetrance of the near-homoplasmic m.1630 A > G MELAS variant in a symptomatic proband and asymptomatic mother.

Authors:  Martine Uittenbogaard; Hao Wang; Victor Wei Zhang; Lee-Jun Wong; Christine A Brantner; Andrea Gropman; Anne Chiaramello
Journal:  Mol Genet Metab       Date:  2019-01-25       Impact factor: 4.797

5.  Structure of the large ribosomal subunit from human mitochondria.

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6.  What can a comparative genomics approach tell us about the pathogenicity of mtDNA mutations in human populations?

Authors:  Hannah O'Keefe; Rachel Queen; Phillip Lord; Joanna L Elson
Journal:  Evol Appl       Date:  2019-08-27       Impact factor: 5.183

Review 7.  Intimate Relations-Mitochondria and Ageing.

Authors:  Michael Webb; Dionisia P Sideris
Journal:  Int J Mol Sci       Date:  2020-10-14       Impact factor: 5.923

Review 8.  Human Mitoribosome Biogenesis and Its Emerging Links to Disease.

Authors:  Maria Isabel G Lopez Sanchez; Annika Krüger; Dmitrii I Shiriaev; Yong Liu; Joanna Rorbach
Journal:  Int J Mol Sci       Date:  2021-04-07       Impact factor: 5.923
  8 in total

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