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Mark A Tarnopolsky, Arun N E Sundaram, John Provias, Lauren Brady, Bekim Sadikovic
Two patients with an m.8340G>A mitochondrial DNA variant have been reported with one patient showing ptosis, ophthalmoparesis and myopathy at 53% heteroplasmy and another with pigmentary retinopathy, cataracts and sensory neural deafness and slightly higher heteroplasmy (65%). Here we report that higher muscle mutant heteroplasmy (93%) for m.8340G>A is associated with ptosis, ophthalmoparesis and mitochondrial myopathy, thus confirming the initial phenotypic association and showing that heteroplasmy per se does not explain the phenotypic spectrum of disease associated with the m...
February 28, 2018: Mitochondrion
Mafalda Bacalhau, Marta Simões, Mariana C Rocha, Steven A Hardy, Amy E Vincent, João Durães, Maria C Macário, Maria João Santos, Olinda Rebelo, Carla Lopes, João Pratas, Cândida Mendes, Mónica Zuzarte, A Cristina Rego, Henrique Girão, Lee-Jun C Wong, Robert W Taylor, Manuela Grazina
Chronic Progressive External Ophthalmoplegia (CPEO) is characterized by ptosis and ophthalmoplegia and is usually caused by mitochondrial DNA (mtDNA) deletions or mt-tRNA mutations. The aim of the present work was to clarify the genetic defect in a patient presenting with CPEO and elucidate the underlying pathogenic mechanism. This 62-year-old female first developed ptosis of the right eye at the age of 12 and subsequently the left eye at 45 years, and was found to have external ophthalmoplegia at the age of 55 years...
November 23, 2017: Neuromuscular Disorders: NMD
Markus J Pfeiffer
Ptosis is often the first symptom of chronic progressive external ophthalmoplegia (CPEO), a rare muscle disorder. As the disease progresses, it can lead to ocular motility defects. Ptosis is present in the early stages of the disease and can be corrected by levator surgery. Due to the rarity of CPEO (< 1% of ptosis patients), further diagnostic steps with muscle biopsy and genetic analysis of mitochondrial DNA are usually not considered in the early phase. Intraoperative abnormal observations during ptosis surgery and postoperative motility problems are signs of CPEO...
January 2018: Klinische Monatsblätter Für Augenheilkunde
Rehan Rajput, Amun Sachdev, Nizar Din, Erika Marie Damato, Aidan Murray
METHODS: We present a rare case with atypical presenting features of unilateral CPEO with a false positive Acetylcholine Receptor Antibody (AchRA) test resulting in diagnostic delay. We illustrate the unilateral nature of this case and demonstrate the caveats of performing myogenic ptosis correction in such patients. We also discuss the differential diagnosis of false positive AchRA, a test commonly performed in the investigation of ptosis. RESULTS: A 34-year old female presented with a more than 3-year history of slowly-progressive, unilateral, right-sided restriction in eye movements and ptosis...
January 15, 2018: Orbit
Zhan-Yun Lv, Xue-Mei Xu, Xiao-Fu Cao, Qian Wang, Da-Fang Sun, Wen-Jing Tian, Yan Yang, Yu-Zhong Wang, Yan-Lei Hao
RATIONALE: Chronic progressive external ophthalmoplegia (CPEO) is a classical mitochondrial ocular disorder characterized by bilateral progressive ptosis and ophthalmoplegia. Kearns -Sayre syndrome (KSS) is a multisystem disorder with PEO, cardiac conduction block, and pigmentary retinopathy. A few individuals with CPEO have other manifestations of KSS, but do not meet all the clinical diagnosis criteria, and this is called "CPEO plus." PATIENT CONCERNS: We report a 48-year-old woman exhibiting limb weakness, ptosis, ophthalmoparesis, and cerebellar dysfunctions...
December 2017: Medicine (Baltimore)
Thomas J Nicholls, Cristina A Nadalutti, Elisa Motori, Ewen W Sommerville, Gráinne S Gorman, Swaraj Basu, Emily Hoberg, Doug M Turnbull, Patrick F Chinnery, Nils-Göran Larsson, Erik Larsson, Maria Falkenberg, Robert W Taylor, Jack D Griffith, Claes M Gustafsson
How mtDNA replication is terminated and the newly formed genomes are separated remain unknown. We here demonstrate that the mitochondrial isoform of topoisomerase 3α (Top3α) fulfills this function, acting independently of its nuclear role as a component of the Holliday junction-resolving BLM-Top3α-RMI1-RMI2 (BTR) complex. Our data indicate that mtDNA replication termination occurs via a hemicatenane formed at the origin of H-strand replication and that Top3α is essential for resolving this structure. Decatenation is a prerequisite for separation of the segregating unit of mtDNA, the nucleoid, within the mitochondrial network...
December 14, 2017: Molecular Cell
Julia N Heighton, Lauren I Brady, Matthew C Newman, Mark A Tarnopolsky
Chronic progressive external ophthalmoplegia (CPEO) is a common mitochondrial disease. We evaluated the impact of sex and smoking status upon knee extension strength and the phenotypic spectrum of disease in a large cohort of adult-onset CPEO patients (N=116) using retrospective chart analysis. The CPEO patients showed significantly lower knee extension strength as compared to the age- and sex-matched control population (-37%, P<0.05). Smoking also negatively impacted knee extension strength only in women with CPEO (-26%, P<0...
December 12, 2017: Mitochondrion
Dario Ronchi, Daniela Piga, Stefano Lamberti, Monica Sciacco, Stefania Corti, Maurizio Moggio, Nereo Bresolin, Giacomo Pietro Comi
No abstract text is available yet for this article.
January 1, 2018: Brain: a Journal of Neurology
Leonardo Caporali, Luca Bello, Francesca Tagliavini, Chiara La Morgia, Alessandra Maresca, Lidia Di Vito, Rocco Liguori, Maria Lucia Valentino, Diego Cecchin, Elena Pegoraro, Valerio Carelli
No abstract text is available yet for this article.
January 1, 2018: Brain: a Journal of Neurology
Kaori Narumi, Eikan Mishima, Yukako Akiyama, Tetsuro Matsuhashi, Takashi Nakamichi, Kiyomi Kisu, Shuhei Nishiyama, Hajime Ikenouchi, Akio Kikuchi, Rumiko Izumi, Mariko Miyazaki, Takaaki Abe, Hiroshi Sato, Sadayoshi Ito
Focal segmental glomerulosclerosis (FSGS) is caused by various etiologies, with mitochondrial dysfunction being one of the causes. FSGS is known to be associated with mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes (MELAS), which is a subclass of mitochondrial disease. However, it has rarely been reported in other mitochondrial disease subclasses. Here, we reported a 20-year-old man diagnosed with FSGS associated with chronic progressive external ophthalmoplegia (CPEO) due to mitochondrial DNA (mtDNA) 3243A>G mutation...
2018: Nephron
Alexander Matthew Jones, Julia Starte, Hamish Dunn, Kate Ahmad, Kimberley Tan
The authors describe three examples of "pulled in two syndrome" (PITS) from a series of 13 patients undergoing strabismus surgery with underlying chronic progressive external ophthalmoplegia (CPEO) and illustrate techniques for recovery of the "pulled in two" extraocular muscle should the complication arise. In all cases, a rectus muscle snapped under minimal tension while held on a strabismus hook during strabismus surgery. Two patients suffered from CPEO as a result of genetic mitochondrial disease, whereas one resulted from presumed mitochondrial toxicity induced by HAART...
November 17, 2017: Journal of Pediatric Ophthalmology and Strabismus
Torsten Kraya, Marcus Deschauer, Pushpa Raj Joshi, Stephan Zierz, Charly Gaul
BACKGROUND: Mitochondrial diseases are a heterogeneous group of diseases with different phenotypes and genotypes. Headache and, particularly migraine, seems to occur often in patients with MELAS and in patients with CPEO phenotypes. The International Classification of Headache Disorders (ICHD-3 beta) has classified headache as a secondary entity only in MELAS patients. Other headache phenotypes in mitochondrial diseases are not considered in ICHD-3beta. In this study, we analyzed headache phenomenology in a large group of patients with mitochondrial disorders...
November 15, 2017: Headache
V N Kapsaski-Kanelli, E Evergetis, A Michaelakis, D P Papachristos, E D Myrtsi, S D Koulocheri, S A Haroutounian
Present essay explores the potentials of Citrus juice industry's by-products as alternative bioactive natural products resources. Four crude Cold Pressed Essential Oils (CPEOs), derived from orange, lemon, grapefruit, and mandarin, were studied. All CPEOs were subjected to water distillation, in order to obtain the volatile fragment, which was further fractionated with respect to distillation period in two parts, concluding to eight samples. These samples along with the four original CPEOs were assessed in relation to their phytochemical content and their repellent and larvicidal properties against Asian Tiger Mosquito...
2017: BioMed Research International
Khyati P Shah, Bipasha Mukherjee
PURPOSE: The purpose of the study was to evaluate the efficacy of silicone rods as frontalis sling for correction of ptosis associated with poor Bell's phenomenon in specific situations. MATERIALS AND METHODS: A retrospective interventional case series of 25 eyes of 19 patients who underwent frontalis suspension surgery with silicone rods for ptosis correction from May 2006 to April 2011, was performed. Inclusion criteria included severe ptosis with poor Bell's phenomenon...
July 2017: Taiwan Journal of Ophthalmology
Jianmin Yuan, Martin J Graves, Andrew J Patterson, Andrew N Priest, Pascal P R Ruetten, Ammara Usman, Jonathan H Gillard
PURPOSE: To develop and optimise a 3D black-blood R2* mapping sequence for imaging the carotid artery wall, using optimal blood suppression and k-space view ordering. METHODS: Two different blood suppression preparation methods were used; Delay Alternating with Nutation for Tailored Excitation (DANTE) and improved Motion Sensitive Driven Equilibrium (iMSDE) were each combined with a three-dimensional (3D) multi-echo Fast Spoiled GRadient echo (ME-FSPGR) readout...
December 2017: Magnetic Resonance Imaging
Feng-Nan Niu, Hai-Lan Meng, Lei-Lei Chang, Hong-Yan Wu, Wei-Ping Li, Ren-Yuan Liu, Hui-Ting Wang, Bing Zhang, Yun Xu
AIMS: Accumulated evidence indicates that cerebral metabolic features, evaluated by proton magnetic resonance spectroscopy ((1) H-MRS), are sensitive to early mitochondrion dysfunction associated with mitochondrial encephalomyopathy (ME). The metabolite ratios of lactate (lac)/Cr, N-acetyl aspartate (NAA)/creatine (Cr), total choline (tCho)/Cr, and myoinositol (mI)/Cr are measured in the infarct-like lesions by (1) H-MRS and may reveal metabolic changes associated with ME. However, the application of this molecular imaging technique in the investigation of the pathology of ME subtypes is unknown...
August 2017: CNS Neuroscience & Therapeutics
Antoine Gueguen, Claude Jardel, Marc Polivka, S Veronica Tan, Françoise Gray, Catherine Vignal, Anne Lombès, Olivier Gout, Hugh Bostock
OBJECTIVE: To explore potential spreading to peripheral nerves of the mitochondrial dysfunction in chronic progressive external ophthalmoplegia (CPEO) by assessing axonal excitability. METHODS: CPEO patients (n=13) with large size deletion of mitochondrial DNA and matching healthy controls (n=22) were included in a case-control study. Muscle strength was quantified using MRC sum-score and used to define two groups of patients: CPEO-weak and CPEO-normal (normal strength)...
July 2017: Clinical Neurophysiology: Official Journal of the International Federation of Clinical Neurophysiology
Carlo Viscomi, Massimo Zeviani
A large group of mitochondrial disorders, ranging from early-onset pediatric encephalopathic syndromes to late-onset myopathy with chronic progressive external ophthalmoplegia (CPEOs), are inherited as Mendelian disorders characterized by disturbed mitochondrial DNA (mtDNA) maintenance. These errors of nuclear-mitochondrial intergenomic signaling may lead to mtDNA depletion, accumulation of mtDNA multiple deletions, or both, in critical tissues. The genes involved encode proteins belonging to at least three pathways: mtDNA replication and maintenance, nucleotide supply and balance, and mitochondrial dynamics and quality control...
July 2017: Journal of Inherited Metabolic Disease
Simão Cruz, Ricardo Taipa, Célia Nogueira, Cristina Pereira, Lígia S Almeida, Raquel Neiva, Tiago Geraldes, António Guimarães, Manuel Melo-Pires, Laura Vilarinho
INTRODUCTION: Mitochondrial disorders display remarkable genetic and phenotypic heterogeneity. METHODS: We performed a retrospective analysis of the clinical, histological, biochemical, and genetic features of 65 patients with molecular diagnoses of mitochondrial disorders. RESULTS: The most common genetic diagnosis was a single large-scale mitochondrial DNA (mtDNA) deletion (41.5%), and the most frequent clinical phenotype was chronic progressive external ophthalmoplegia (CPEO)...
November 2017: Muscle & Nerve
Jennifer Murdock, Preeti J Thyparampil, Michael T Yen
Chronic progressive external ophthalmoplegia (CPEO) is a mitochondrial myopathy with slowly progressive, often symmetric blepharoptosis and limitation of ocular motility in all directions of gaze. The authors present an unusual case of CPEO that initially presented with the unique features of markedly asymmetric facial weakness and the lack of blepharoptosis. However, over the subsequent three decades, the patient developed progressive facial and eyelid dysfunction more consistent with a classical description of CPEO...
February 2016: Neuro-ophthalmology
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