Clonal expansion of mitochondrial DNA with multiple deletions in autosomal dominant progressive external ophthalmoplegia

Annals of Neurology
A R MoslemiA Oldfors

Abstract

Sporadic progressive external ophthalmoplegia and Kearns-Sayre syndrome are usually associated with single large-scale mitochondrial DNA deletions in muscle. In progressive external ophthalmoplegia with autosomal dominant inheritance, multiple mitochondrial DNA deletions have been reported. We studied several members of a Swedish family with autosomal dominant progressive external ophthalmoplegia and multiple mitochondrial DNA deletions by polymerase chain reaction analysis of single muscle fibers and by in situ hybridization, combined with enzyme histochemical analysis. Muscle fiber segments with deficiency of cytochrome c oxidase, which is partially encoded by mitochondrial DNA, had accumulated mitochondrial DNA with deletions and showed reduced levels of wild-type mitochondrial DNA. The deletions varied between individual muscle fibers. There was one predominant deletion in each cytochrome c oxidase-deficient muscle fiber segment. Sequencing of the deletion breakpoints showed that most but not all of the deletions were flanked by direct repeats. Young, clinically affected individuals of this family without limb muscle symptoms did not show mitochondrial DNA deletions or cytochrome c oxidase-deficient muscle fibers. Our resul...Continue Reading

References

Jul 1, 1992·Journal of the Neurological Sciences·A OldforsM Droste
Apr 1, 1992·Brain Pathology·M HaltiaH Somer
Apr 1, 1992·Brain : a Journal of Neurology·S R HammansA E Harding
Dec 1, 1991·Proceedings of the National Academy of Sciences of the United States of America·J HayashiI Nonaka
Mar 16, 1990·Biochemical and Biophysical Research Communications·M OtsukaS Ohta
May 18, 1989·The New England Journal of Medicine·C T MoraesS Servidei
Oct 1, 1989·Proceedings of the National Academy of Sciences of the United States of America·J M ShoffnerD C Wallace
Dec 1, 1989·Proceedings of the National Academy of Sciences of the United States of America·S MitaE Bonilla
Sep 1, 1988·Neurology·M ZevianiL P Rowland
Apr 9, 1981·Nature·S AndersonI G Young
Jan 1, 1995·Acta Neuropathologica·T KlopstockH Reichmann
Nov 1, 1995·Annals of Neurology·R C GriggsL P Rowland
Jul 1, 1995·Journal of Neuropathology and Experimental Neurology·A OldforsC Lindberg
Feb 1, 1995·Nature Genetics·A SuomalainenL Peltonen
Jan 1, 1995·European Journal of Pediatrics·M H TuliniusB Kristiansson
Apr 1, 1993·Brain : a Journal of Neurology·A OldforsE Holme
Jan 1, 1995·Annual Review of Genetics·N G Larsson, D A Clayton
Jan 1, 1962·Acta Neurologica Scandinavica. Supplementum·T BROMAN
Jan 1, 1962·Acta Neurologica Scandinavica·P O Lundberg

❮ Previous
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Citations

Dec 11, 1999·Muscle & Nerve·T H VuE Bonilla
May 19, 2007·Bioscience Reports·Antonella Spinazzola, Massimo Zeviani
Oct 1, 2000·Journal of the American Aging Association·R M Anson, V A Bohr
Jun 1, 2005·Gene·Antonella Spinazzola, Massimo Zeviani
Dec 14, 1999·Journal of the Neurological Sciences·R CarrozzoA F Miranda
May 3, 2002·Ophthalmology·Vincent A WongTimothy J Sullivan
Aug 1, 1997·Comptes rendus de l'Académie des sciences. Série III, Sciences de la vie·P ReynierP Lestienne
Jul 23, 1998·Neuromuscular Disorders : NMD·A R MoslemiA Oldfors
Apr 24, 2010·Human Molecular Genetics·Emil YlikallioAnu Suomalainen
Jul 24, 2002·Nucleic Acids Research·Langping HeDouglass M Turnbull
Jun 20, 2014·Rinshō shinkeigaku = Clinical neurology·Masako MukaiImaharu Nakano
Aug 22, 2008·Journal of Neuropathology and Experimental Neurology·Gábor ZsurkaWolfram S Kunz
Sep 21, 2000·The Journal of Investigative Dermatology·A J RayM A Birch-Machin
Aug 10, 2006·Journal of Neuropathology and Experimental Neurology·Gittan KollbergAnders Oldfors
Feb 5, 2009·Journal of Internal Medicine·A Spinazzola, M Zeviani
Feb 11, 2015·The International Journal of Biochemistry & Cell Biology·Valerio CarelliMichela Rugolo
Jul 17, 2004·Endocrine Journal·Tatiana RogounovitchShunichi Yamashita
Jun 19, 2003·The Journal of Clinical Investigation·Yutaka NishigakiMichio Hirano
Mar 3, 2017·Movement Disorders : Official Journal of the Movement Disorder Society·Maria Pia GiannoccaroValerio Carelli
Oct 2, 2001·American Journal of Medical Genetics·A Suomalainen, J Kaukonen
Jun 20, 2001·Acta Physiologica Scandinavica·N G Larsson, A Oldfors
Aug 7, 1999·FEBS Letters·N G Larsson, R Luft
Feb 11, 2005·European Journal of Human Genetics : EJHG·Gittan KollbergAnders Oldfors
Apr 15, 2019·Current Protocols in Toxicology·Joel H WheelerMatthew J Young
Aug 13, 1999·Ultrastructural Pathology·K KyriacouT Kyriakides
Feb 17, 2019·Nature Communications·Örjan PerssonMaria Falkenberg
Jul 8, 2000·Brain Pathology·M Hirano, T H Vu
Mar 23, 2017·Journal of Inherited Metabolic Disease·Carlo Viscomi, Massimo Zeviani
Aug 3, 2011·Annals of Medicine·Emil Ylikallio, Anu Suomalainen
Mar 18, 2003·Journal of Neuropathology and Experimental Neurology·Anders Oldfors, Már Tulinius

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