Journal ArticleDOI
A novel mitochondrial DNA deletion producing progressive external ophthalmoplegia associated with multiple sclerosis
Mark Slee,Mark Slee,James Finkemeyer,Malgorzata Krupa,Ravinarayan Raghupathi,J. Gardner,Peter C. Blumbergs,Mark J. Agzarian,Dominic Thyagarajan,Dominic Thyagarajan +9 more
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TLDR
The deletion resulted in significant respiratory chain deficiency in muscle and blood and abnormalities of the platelet mitochondrial membrane potential, and cerebrospinal fluid analysis, magnetic resonance spectroscopy and MRI features suggested inflammatory central nervous system demyelination rather than a primary respiratory chain disorder.About:
This article is published in Journal of Clinical Neuroscience.The article was published on 2011-10-01. It has received 21 citations till now. The article focuses on the topics: Respiratory chain & Mitochondrial disease.read more
Citations
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Journal ArticleDOI
Involvement of Mitochondria in Neurodegeneration in Multiple Sclerosis.
TL;DR: The contemporary data indicate that the axonal degeneration in multiple sclerosis largely results from the activation of Ca2+-dependent proteases and from misbalance of ion homeostasis caused by energy deficiency.
Journal ArticleDOI
Comparative toxicity and apoptosis induced by diorganotins in rat pheochromocytoma (PC12) cells
TL;DR: Investigations suggested that the cytotoxic potency of three diorganotins in PC12 cells was in the order of DBT>DPT≫DMT, and these compounds could induce PC 12 cells apoptosis through ROS mediated mitochondrial pathway.
Journal ArticleDOI
Mitochondrial DNA Variation and Heteroplasmy in Monozygotic Twins Clinically Discordant for Multiple Sclerosis
N Y Souren,Lisa Ann Gerdes,Tania Kümpfel,Pavlo Lutsik,Thomas Klopstock,Thomas Klopstock,Reinhard Hohlfeld,Jörn Walter +7 more
TL;DR: This analysis excludes mtDNA variation as a major driver of the discordant clinical manifestation of MS in MZ twins, and provides valuable insights into the occurrence and distribution of heteroplasmic variants within Mz twins and nonidentical siblings, and across different tissues.
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Platelets in Multiple Sclerosis: Early and Central Mediators of Inflammation and Neurodegeneration and Attractive Targets for Molecular Imaging and Site-Directed Therapy.
Jacqueline M. Orian,Claretta S D'Souza,Pece Kocovski,Guy Y. Krippner,Matthew W. Hale,Xiaowei Wang,Karlheinz Peter,Karlheinz Peter,Karlheinz Peter +8 more
TL;DR: The role of platelets in the development of MS was investigated in this paper, where the critical timing of platelet accumulation in preclinical EAE and establishing an initiating and central rather than merely exacerbating role for platelet in disease development.
Journal ArticleDOI
An "inflammatory" mitochondrial myopathy. A case report.
Michelangelo Mancuso,Daniele Orsucci,Elena Caldarazzo Ienco,Giulia Ricci,Greta Alì,Adele Servadio,Gabriella Fontanini,Massimiliano Filosto,Valentina Vielmi,Anna Rocchi,Lucia Petrozzi,Annalisa LoGerfo,Gabriele Siciliano +12 more
TL;DR: This case supports the idea of a pathologic inflammatory response induced by mitochondrial disease and suggests a therapeutic attempt with immunoglobulins in mitochondrial patients with acute respiratory failure, at least when this mutation and/or muscle inflammation is present.
References
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Journal ArticleDOI
DNA sequencing with chain-terminating inhibitors
TL;DR: A new method for determining nucleotide sequences in DNA is described, which makes use of the 2',3'-dideoxy and arabinon nucleoside analogues of the normal deoxynucleoside triphosphates, which act as specific chain-terminating inhibitors of DNA polymerase.
Journal ArticleDOI
Mitochondrial DNA Deletions in Progressive External Ophthalmoplegia and Kearns-Sayre Syndrome
Carlos T. Moraes,Salvatore DiMauro,Massimo Zeviani,Anne Lombès,Sara Shanske,Armand F. Miranda,Hirofumi Nakase,Eduardo Bonilla,Lineu Cesar Werneck,Serenella Servidei,Ikuya Nonaka,Yasutoshi Koga,Alfred J. Spiro,A. Keith W. Brownell,Beny Schmidt,Donald L. Schotland,Mary L. Zupanc,Darryl C. DeVivo,Eric A. Schon,Lewis P. Rowland +19 more
TL;DR: It is concluded that deletions of muscle mitochondrial DNA are associated with ophthalmoplegia and may result in impaired mitochondrial function, however, the precise relation between clinical and biochemical phenotypes and deletions remains to be defined.
Journal ArticleDOI
Deletions of mitochondrial DNA in Kearns‐Sayre syndrome
Massimo Zeviani,Carlos T. Moraes,Salvatore DiMauro,Hirofumi Nakase,Eduardo Bonilla,Eric A. Schon,Lewis P. Rowland +6 more
TL;DR: Large-scale deletions in muscle mitochondrial DNA (mtDN A) in seven of seven patients with Kearns-Sayre syndrome (KSS) bolster arguments that KSS is a unique disorder and genetic in origin.
Journal ArticleDOI
Mitochondrial membrane potential and neuronal glutamate excitotoxicity: mortality and millivolts.
David G. Nicholls,Manus W. Ward +1 more
TL;DR: Monitoring of the major component of Deltap, the mitochondrial membrane potential Deltapsim, in intact neurones exposed to excitotoxic stimuli, in the hope of establishing the causal relationships between cell death and mitochondrial dysfunction.
Journal ArticleDOI
Primary-progressive multiple sclerosis
TL;DR: MRI of the brain and spinal cord, and examination of the CSF, are important investigations for diagnosis; conventional immunomodulatory therapies, such as interferon beta and glatiramer acetate, are ineffective.