A novel mitochondrial tRNA(Phe) mutation inhibiting anticodon stem formation associated with a muscle disease

Biochemical and Biophysical Research Communications
S KleinleS Liechti-Gallati

Abstract

We have identified a novel mitochondrial (mt) DNA mutation in the tRNA(Phe)-gene in a patient with an isolated mitochondrial myopathy. This T to C transition at position 618 disrupts a strictly conserved base pair within the anticodon stem of tRNA(Phe). Computer analysis showed that the affected base pair is essential for anticodon stem formation of tRNA(Phe). The mutant mtDNA was heteroplasmic in skeletal muscle (95% mutant) and peripheral blood cells (20% mutant) from the patient but was undetectable in blood cells from his healthy sister. The patient presented with ragged red fibers and reduced activities of complex I and complex III in skeletal muscle. The T618C mutation described here is the second found in this region. Both mutations affect the same base pair of the tRNA(Phe) anticodon stem substantiating the pathogenic nature of both mutations.

References

Oct 1, 1989·Proceedings of the National Academy of Sciences of the United States of America·J A JaegerM Zuker
Apr 9, 1981·Nature·S AndersonI G Young
Jun 1, 1995·Brain : a Journal of Neurology·S R HammansA E Harding
Jul 1, 1993·Nature Genetics·C T MoraesS DiMauro
Apr 1, 1996·European Journal of Pediatrics·A MunnichP Rustin
Sep 30, 1996·Clinica Chimica Acta; International Journal of Clinical Chemistry·S KrähenbühlU Wiesmann
Mar 1, 1997·Annals of Neurology·P F ChinneryD M Turnbull
Feb 21, 1998·Nucleic Acids Research·M SprinzlS Steinberg
Jan 4, 1998·Journal of Neurology, Neurosurgery, and Psychiatry·P F Chinnery, D M Turnbull

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Citations

Sep 15, 2011·The Journal of Laryngology and Otology·A SudoS Saitoh
Dec 13, 2012·European Journal of Human Genetics : EJHG·Ivo BarićJohannes A Mayr
Apr 23, 2003·Clinical Chemistry and Laboratory Medicine : CCLM·Robea BalloM Iqbal Parker
Sep 20, 2007·Proceedings of the National Academy of Sciences of the United States of America·Jiqiang LingMichael Ibba
Nov 8, 2014·Journal of Neurology·Gerald PfefferPatrick F Chinnery
Sep 18, 2012·Mitochondrial DNA·Mohammad Ali DowlatiJavad Tavakkoly Bazzaz
Dec 19, 2008·Journal of the Neurological Sciences·Takahiro IizukaFumihiko Sakai
Oct 2, 2001·American Journal of Medical Genetics·S DiMauro, E A Schon
Jun 13, 2003·The Neurologist·J Finsterer
Nov 14, 2007·Muscle & Nerve·Fernando Scaglia, Lee-Jun C Wong
Jun 23, 2018·Biomedical Reports·Abbas MasserratMassoud Houshmand
Jul 19, 2014·The British Journal of Ophthalmology·Christopher B JacksonAndré Schaller
Mar 4, 2000·Journal of the Royal Society of Medicine·P MoosmannB Frauchiger
Jul 8, 2000·Brain Pathology·S DiMauro, A L Andreu
Aug 12, 2006·Journal of Child Neurology·Gian Paolo RamelliJean-Marc Burgunder

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