Genomes and Genes
Summary: A mitochondrial disorder characterized by focal or generalized seizures, episodes of transient or persistent neurologic dysfunction resembling strokes, and ragged-red fibers on muscle biopsy. Affected individuals tend to be normal at birth through early childhood, then experience growth failure, episodic vomiting, and recurrent cerebral insults resulting in visual loss and hemiparesis. The cortical lesions tend to occur in the parietal and occipital lobes and are not associated with vascular occlusion. VASCULAR HEADACHE is frequently associated and the disorder tends to be familial. (From Joynt, Clinical Neurology, 1992, Ch56, p117)
Publications188 found, 100 shown here
- Mitochondrial encephalopathy, lactic acidosis, and strokelike episodes: basic concepts, clinical phenotype, and therapeutic management of MELAS syndromeDouglas M Sproule
Columbia University, Pediatric Neurology, 180 Fort Washington Ave, Harkness Pavilion, 5th Floor, New York, NY 10032, USA
Ann N Y Acad Sci 1142:133-58. 2008..Although therapeutic options for MELAS and other mitochondrial diseases remain limited, and recent trials have been disappointing, we also consider current and potential therapeutic modalities...
- Diagnostic criteria for respiratory chain disorders in adults and childrenF P Bernier
Murdoch Childrens Research Institute, Royal Children s Hospital, Flemington Road, Parkville VIC 3052, Australia
Neurology 59:1406-11. 2002..Respiratory chain (RC) disorders are clinically, biochemically, and molecularly heterogeneous. The lack of standardized diagnostic criteria poses difficulties in evaluating diagnostic methodologies...
- Correction of the consequences of mitochondrial 3243A>G mutation in the MT-TL1 gene causing the MELAS syndrome by tRNA import into mitochondriaOlga Z Karicheva
UMR 7156 University of Strasbourg CNRS, Molecular Genetics, Genomics and Microbiology, Strasbourg 67084, France
Nucleic Acids Res 39:8173-86. 2011..The m.3243A>G mutation was described as the major cause of the MELAS syndrome (mitochondrial encephalomyopathy with lactic acidosis and stroke-like episodes)...
- Human mitochondrial leucyl-tRNA synthetase corrects mitochondrial dysfunctions due to the tRNALeu(UUR) A3243G mutation, associated with mitochondrial encephalomyopathy, lactic acidosis, and stroke-like symptoms and diabetesRonghua Li
Division of Human Genetics, Cincinnati Children s Hospital Medical Center, 3333 Burnet Avenue, Cincinnati, OH 45229 3039, USA
Mol Cell Biol 30:2147-54. 2010..These findings provide new insights into the molecular mechanism of maternally inherited diseases and a step toward therapeutic interventions for these disorders...
- PET imaging of redox and energy states in stroke-like episodes of MELASMasamichi Ikawa
Second Department of Internal Medicine Neurology, Faculty of Medical Sciences, University of Fukui, 23 3 Shimoaiduki, Matsuoka, Eiheiji cho, Fukui 910 1193, Japan
Mitochondrion 9:144-8. 2009....
- The m.3243A>G mtDNA mutation is pathogenic in an in vitro model of the human blood brain barrierMercy M Davidson
Department of Neurology, Columbia University Medical Center, New York, NY 10032, United States
Mitochondrion 9:463-70. 2009..These data support our hypothesis that respiratory chain defects in the components of the BBB cause changes in permeability...
- Accumulation of oxidative stress around the stroke-like lesions of MELAS patientsYuri Katayama
Division of Neurology, Department of Internal Medicine, Shiga University of Medical Science, Seta Tsukinowa, Otsu, Shiga 520 2192, Japan
Mitochondrion 9:306-13. 2009..Increased oxidative stress and insufficient defense could be involved in the pathogenesis of the spreading lesions in MELAS...
- Nerve conduction abnormalities in patients with MELAS and the A3243G mutationPetra Kaufmann
Department of Neurology, Columbia University, 710 W 168th Street, New York, NY 10032, USA
Arch Neurol 63:746-8. 2006..Neuropathy has been associated with several mitochondrial diseases, including MELAS (mitochondrial encephalomyopathy, lactic acidosis, and strokelike episodes)...
- Revelation of a new mitochondrial DNA mutation (G12147A) in a MELAS/MERFF phenotypeMariarosa A B Melone
First Division of Neurology, Department of Neurological Sciences, Second University of Naples, School of Medicine, Poclinico Universitario Federico II, Italy
Arch Neurol 61:269-72. 2004....
- Treatment options for mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes (MELAS) syndromeKristin M Santa
Department of Pharmacy, Froedtert Hospital, Milwaukee, Wisconsin 53226, USA
Pharmacotherapy 30:1179-96. 2010..Caused most frequently by an A-to-G point mutation at the 3243 position in the mitochondrial DNA, MELAS syndrome has a broad range of clinical manifestations and a highly variable course...
- The yeast counterparts of human 'MELAS' mutations cause mitochondrial dysfunction that can be rescued by overexpression of the mitochondrial translation factor EF-TuM Feuermann
Laboratoire de Genetique Moleculaire, Institut de Genetique et Microbiologie, Batiment 400, Universite Paris Sud, 91405 Orsay Cedex, France
EMBO Rep 4:53-8. 2003....
- MELAS associated with mutations in the POLG1 geneM Deschauer
Department of Neurology, Martin Luther Universitat Halle Wittenberg, Halle Saale, Germany
Neurology 68:1741-2. 2007
- Prevalence of macular pattern dystrophy in maternally inherited diabetes and deafness. GEDIAM GroupP Massin
Department of Ophthalmology, Hopital Lariboisiere, Universite Paris 7, France
Ophthalmology 106:1821-7. 1999..e., the substitution of guanine for adenine at position 3243 of leucine transfer RNA) and to report the clinical characteristics of MPD...
- Serial brain imaging analysis of stroke-like episodes in MELASHiromichi Ito
Department of Pediatrics, School of Medicine, University of Tokushima, 3 18 15, Kuramoto Cho, Tokushima 770 8503, Japan
Brain Dev 30:483-8. 2008..These results suggest that the stroke-like episodes is related to vasogenic edema, hyperperfusion, and neuronal damage. Acute oxidative phosphorylation defect may have a crucial role in the pathophysiology of stroke-like episodes...
- Is the mitochondrial complex I ND5 gene a hot-spot for MELAS causing mutations?Danae Liolitsa
Neuromuscular Unit, Institute of Neurology, University College London, United Kingdom
Ann Neurol 53:128-32. 2003..Histochemistry was normal. Our observations add to the evidence that mitochondrial ND5 protein coding gene mutations frequently associate with the MELAS phenotype, and it highlights the role of complex I dysfunction in MELAS...
- Clinical presentations of mitochondrial cardiomyopathiesD Lev
Mitochondrial Disease Clinic, Metabolic Neurogenetic Service, Wolfson Medical Center, Holon, Israel
Pediatr Cardiol 25:443-50. 2004..Seven patients exhibited a deficiency of a respiratory chain enzyme in the muscle. The MELAS mtDNA point mutation (3243) was found in one patient. Blood lactic acid levels were increased in 5. Brain MRI abnormalities were observed in 4...
- Mutations of the mitochondrial ND1 gene as a cause of MELASD M Kirby
J Med Genet 41:784-9. 2004
- Aggressive confusional state as a clinical manifestation of status epilepticus in MELASB Feddersen
Department of Neurology, Klinikum Grosshadern, University of Munich, Germany
Neurology 61:1149-50. 2003
- Discordance between cerebral oxygen and glucose metabolism, and hemodynamics in a mitochondrial encephalomyopathy, lactic acidosis, and strokelike episode patientT Nariai
Neurosurgical Section, Brain Medical Science Graduate School, Tokyo Medical and Dental University, 1 5 45 Yushima, Bunkyo ku, Tokyo 113 8519, Japan
J Neuroimaging 11:325-9. 2001..In the PET study, decreased CMRO2 and increased PET-CBF and CMRGlu were noted in the entire brain. The strokelike episodes of patients with MELAS are more likely attributed to the failure of oxygen metabolism than to a vascular accident...
- Pathogenesis of stroke-like episodes in MELAS: analysis of neurovascular cellular mechanismsTakahiro Iizuka
Department of Medicine Neurology, School of Medicine, Kitasato University, Kitasato, Kanagawa, Japan
Curr Neurovasc Res 2:29-45. 2005..As a consequence, susceptible neuronal population in the cortex may result in neuronal loss with a laminar or pseudo-laminar distribution...
- A MELAS syndrome family harboring two mutations in mitochondrial genomeByung Ok Choi
Department of Neurology and Ewha Medical Research Center, Ewha Womans University School of Medicine, Seoul, Korea
Exp Mol Med 40:354-60. 2008..This study also demonstrates the importance of full sequencing of mtDNA for the molecular genetic understanding of mitochondrial disorders...
- Peripheral neuropathy in patients with the 3243A>G mutation in mitochondrial DNAMikko Kärppä
Department of Neurology and Biocenter, University of Oulu, P O Box 5000, 90014 Oulu, Finland
J Neurol 250:216-21. 2003..Higher age and male gender were associated with an increased risk of neuropathy. Our results show that peripheral neuropathy is not uncommon in patients with the 3243A > G mutation, and they also may have an increased risk of CTS...
- MR evaluation of cerebral oxygen metabolism and blood flow in stroke-like episodes of MELASZhaoxia Wang
Department of Neurology, Peking University First Hospital, Beijing, 100034, China
J Neurol Sci 323:173-7. 2012..The increased utilization of oxygen in an acute lesion is a novel finding in our study, which might play a role in the oxidative stress...
- Mutation in the mitochondrial tRNA(Val) causes mitochondrial encephalopathy, lactic acidosis and stroke-like episodesCatherine Glatz
Section of Biochemical Genetics, The Children s Hospital of Philadelphia, 3615 Civic Center Boulevard, Philadelphia, PA 19104, USA
Mitochondrion 11:615-9. 2011..The m.1630A>G mutation impairs oxygen consumption, affects the stability of the MTTV and reduces the levels of subunits of the electron transport chain...
- Association of the MELAS m.3243A>G mutation with myositis and the superiority of urine over muscle, blood and hair for mutation detectionRosetta Marotta
St Vincent s Melbourne Neuromuscular Diagnostic Laboratory, Department of Clinical Neurosciences, 5th Floor Daly Wing, St Vincent s Hospital, 35 Victoria Parade, Fitzroy, Victoria 3065, Australia
J Clin Neurosci 16:1223-5. 2009..This report highlights the need to screen various tissues to achieve an accurate mitochondrial genetic diagnosis and suggests the likelihood of myositis arising secondary to the MELAS MT-TL1 m.3243A>G mutation...
- Melas associated with mutations in the polg1 geneCharalampos Tzoulis
Neurology 70:1054; author reply 1054-5. 2008
- MELAS syndrome, cardiomyopathy, rhabdomyolysis, and autism associated with the A3260G mitochondrial DNA mutationBarbara S Connolly
Department of Medicine, Hamilton Health Sciences, Hamilton, ON, Canada
Biochem Biophys Res Commun 402:443-7. 2010..kindred reported the phenotype of mitochondrial encephalomyopathy, lactic acidosis and stroke-like episodes (MELAS syndrome) in association with the A3260G mtDNA mutation...
- Heart transplantation for progressive cardiomyopathy as a manifestation of MELAS syndromeRajendra S Bhati
Division of Cardiothoracic Surgery, Department of Surgery, University of North Carolina, Chapel Hill, North Carolina 27599, USA
J Heart Lung Transplant 24:2286-9. 2005....
- An autopsy case of mitochondrial encephalomyopathy with lactic acidosis and stroke-like episodes syndrome with chronic renal failureC Yanagihara
Department of Neurology, Nishi-Kobe Medical Center
Intern Med 40:662-5. 2001..This is the first report of a MELAS case in which the presence of numerous abnormal mitochondria in podocytes and tubules was confirmed by electron microscopy...
- Prevalence of A-to-G mutation at nucleotide 3243 of the mitochondrial tRNA(Leu(UUR)) gene in Japanese patients with diabetes mellitus and end stage renal diseaseN Iwasaki
Diabetes Center, Tokyo Women s Medical University, Japan
J Hum Genet 46:330-4. 2001..704; P = 0.0002). The mt.3243A>G mutation may be a contributing genetic factor in the development of ESRD in Japanese patients with diabetes...
- Successful left hemihepatectomy and perioperative management of a patient with biliary cystadenocarcinoma, complicated with MELAS syndrome: report of a caseAyami Ohno
Division of Hepato Biliary Pancreatic Surgery and Transplantation, Department of Surgery, Graduate School of Medicine, Kyoto University, 54 Shogoin, Kawahara cho, Sakyo ku, Kyoto 606 8507, Japan
Surg Today 40:878-82. 2010..The patient in this report has remained free of liver dysfunctions and cancer recurrence for 2 years following the hepatectomy. This is the first report of a successful major hepatectomy for a patient with MELAS...
- MELAS with recurrent complex partial seizures, nonconvulsive status epilepticus, psychosis, and behavioral disturbances: case analysis with literature reviewKenneth R Kaufman
Department of Psychiatry, UMDNJ Robert Wood Johnson Medical School, New Brunswick, NJ 08901, USA
Epilepsy Behav 18:494-7. 2010..Further education of medical professionals regarding this disorder, its appropriate management, and the significance of NCSE is indicated to avoid delay of treatment...
- Episodic hyponatremia in mitochondrial encephalomyopathy, lactic acidosis, and strokelike episodes (MELAS)Hiroaki Kubota
Division of Neurology, Chiba Children s Hospital, Chiba, Japan
J Child Neurol 20:116-20. 2005..Because severe hyponatremia can cause serious complications, clinicians should pay attention to serum sodium levels and maintain them properly in patients with MELAS...
- An autopsy case of mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes (MELAS) with intestinal bleeding in chronic renal failureAkira Mima
Department of Nephrology, The University of Tokushima Graduate School, Tokushima, Japan
Ren Fail 33:622-5. 2011..Multiple organ failure due to the mutation of mitochondrial DNA with gastrointestinal bleeding is not a common...
- Mitochondrial A135149 mutation without MELAS but in association with papillary thyroid carcinomaK Abu-Amero
Clin Genet 66:569-70. 2004
- Statins provoking MELAS syndrome. A case reportJoseph E Thomas
Department of Internal Medicine, School of Medicine, University of Connecticut, Farmington, Conn, USA
Eur Neurol 57:232-5. 2007..Idiopathic or primary CoQ10 deficiencies have been known to cause mitochondrial encephalomyopathy...
- Renal cell carcinoma in a pediatric patient with an inherited mitochondrial mutationSurasak Sangkhathat
Department of Pediatric Surgery, Osaka University Graduate School of Medicine, 2 2 Yamadaoka, Suita, Osaka, 565 0871 Japan
Pediatr Surg Int 21:745-8. 2005..With this information, we speculated a role of mitochondria mutation in the pathogenesis of this cancer...
- Vascular involvement in the pathogenesis of mitochondrial encephalomyopathiesZai qiang Zhang
Department of Neurology, Beijing Tiantan Hospital, Capital Medical University, Beijing 100050, China
Neurol Res 32:403-8. 2010..Furthermore, the pathology of muscle vessel was evaluated, to explore the role of vasculopathy and ischemic events in the pathogenesis of mitochondrial encephalomyopathies...
- Mitochondrial encephalopathy with lactic acidosis and stroke-like episodes syndrome with hypothyroidism and focal segmental glomerulosclerosis in a paediatric patientKeith K Lau
Department of Paediatrics, University of California, Davis, 2516 Stockton Blvd, Sacramento, CA 95817, USA
Int Urol Nephrol 39:941-6. 2007..The purpose of this report is to increase the awareness of health-care professionals, especially in the fields of paediatrics, neurology, endocrinology and nephrology, regarding the manifestations and complications of MELAS...
- Regional cerebral blood flow and cerebrovascular reactivity during chronic stage of stroke-like episodes in MELAS -- implication of neurovascular cellular mechanismTakahiro Iizuka
Department of Neurology, School of Medicine, Kitasato University, 1 15 1 Kitasato, Sagamihara, Kanagawa, 228 8555, Japan
J Neurol Sci 257:126-38. 2007..Ischemic vascular hypothesis as a causative role in the pathogenesis of stroke-like episodes in MELAS remains to be debated...
- Slowly progressive spread of the stroke-like lesions in MELASTakahiro Iizuka
Department of Medicine Neurology, School of Medicine, Kitasato University, Sagamihara, Kanagawa, Japan
Neurology 61:1238-44. 2003..Little is known about temporal and spatial progression of the stroke-like lesion during the acute stage of the stroke-like episode in patients with mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes (MELAS)...
- Diffusion and perfusion characteristics of MELAS (mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episode) in thirteen patientsJi Hye Kim
Department of Radiology and Center for Imaging Science, Samsung Medical Center, Sungkyunkwan University, School of Medicine, Seoul 135 710, Korea
Korean J Radiol 12:15-24. 2011....
- An mtDNA mutation, 14453G-->A, in the NADH dehydrogenase subunit 6 associated with severe MELAS syndromeK Ravn
Department of Clinical Genetics, University Hospital, Rigshospitalet, Copenhagen, Denmark
Eur J Hum Genet 9:805-9. 2001..ND6 subunit of the NADH:ubiquinone oxidoreductase (complex I of the respiratory chain) in a patient with MELAS syndrome. The mutation causes a change from alanine to valine in the most conserved region of the ND6 subunit...
- Restoration of impaired nitric oxide production in MELAS syndrome with citrulline and arginine supplementationAyman W El-Hattab
Division of Medical Genetics, Department of Child Health, University of Missouri Health Care, Columbia, MO 65212, USA
Mol Genet Metab 105:607-14. 2012..This study aimed to assess NO production in subjects with MELAS syndrome and the effect of the NO precursors arginine and citrulline...
- Neuronal hyperexcitability in stroke-like episodes of MELAS syndromeT Iizuka
Department of Medicine, School of Medicine, Kitasato University, Kanagawa, Japan
Neurology 59:816-24. 2002..The pathogenesis of stroke-like episodes in patients with mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episodes (MELAS) remains unknown...
- Endocrine disorders in two sisters affected by MELAS syndromeP Balestri
Department of Pediatrics, University of Siena, Italy
J Child Neurol 15:755-8. 2000....
- Serial diffusion-weighted imaging in a patient with MELAS and presumed cytotoxic oedemaX Y Wang
Department of Radiology, Peking University First Hospital, 1000034 Peking, China
Neuroradiology 45:640-3. 2003..In the chronic stage, the ADC became higher than that in normal brain. We therefore suggest that the stroke-like episodes did not cause vasogenic oedema but were related to energy failure and cytotoxic oedema...
- Vasogenic edema on MELAS: a serial study with diffusion-weighted MR imagingM Yoneda
Second Department of Internal Medicine, Fukui Medical University, Japan
Neurology 53:2182-4. 1999..DWI demonstrated a higher apparent diffusion coefficient in the lesion than in the control region during the acute stage of stroke. Vasogenic edema is present in stroke-like episodes in MELAS...
- Diagnosis and management of MELASMadhav Thambisetty
Department of Neurology, Institute of Psychiatry, King s College London, UK
Expert Rev Mol Diagn 4:631-44. 2004..Newer reproductive technologies hold promise for reducing the recurrence of MELAS in subsequent generations. Advances in research into gene therapy offer hope of treatment for the future...
- MELAS presented with status epilepticus and Anton-Babinski syndrome; value of ADC mapping in MELASMurat Alemdar
J Neuropsychiatry Clin Neurosci 19:482-3. 2007
- The A3243G tRNALeu(UUR) MELAS mutation causes amino acid misincorporation and a combined respiratory chain assembly defect partially suppressed by overexpression of EFTu and EFG2Florin Sasarman
Montreal Neurological Institute, Montreal, QC, Canada
Hum Mol Genet 17:3697-707. 2008....
- Prenatal diagnosis of a fetus harboring an intermediate load of the A3243G mtDNA mutation in a maternal carrier diagnosed with MELAS syndromeYin Jou Chou
Department of Obstetrics and Gynecology, Chang Gung Memorial Hospital, Kaohsiung, Taiwan
Prenat Diagn 24:367-70. 2004We prenatally diagnosed MELAS syndrome in a fetus whose mother and older brother had the MELAS-specific A3243G mutation...
- Distinguishing ischemic stroke from the stroke-like lesions of MELAS using apparent diffusion coefficient mappingStephen J Kolb
Department of Neurology, Hospital of the University of Pennsylvania, Philadelphia, PA 19104, USA
J Neurol Sci 216:11-5. 2003..We conclude that conventional MRI when used with diffusion-weighted MR imaging may be invaluable in detecting mitochondrial-related CNS dysfunction...
- Differential diagnosis of restricted diffusion confined to the cerebral cortexF Sheerin
Department of Radiology, Stoke Mandeville Hospital, UK
Clin Radiol 63:1245-53. 2008..DWI also contributes useful diagnostic information in a range of other conditions. In this review we describe the magnetic resonance imaging (MRI) features of a number of conditions characterized by cortical diffusion restriction (CDR)...
- The pathogenic A3243G mutation in human mitochondrial tRNALeu(UUR) decreases the efficiency of aminoacylationHyejeong Park
Department of Biochemistry and Molecular Pharmacology, Thomas Jefferson University, 233 South 10th Street, BLSB 308, Philadelphia, Pennsylvania 19107, USA
Biochemistry 42:958-64. 2003..These results also suggest that the A3243G and T3271C mutations may have distinct mechanisms of pathogenesis...
- Comparison of conventional and diffusion-weighted MRI and proton MR spectroscopy in patients with mitochondrial encephalomyopathy, lactic acidosis, and stroke-like eventsK Abe
Department of Neurology, Osaka University Graduate School of Medicine, 2 2 Yamadaoka, Suita, 565 0871 Osaka, Japan
Neuroradiology 46:113-7. 2004..Our findings suggest a possible predictive ability of (1)H-MRS, in showing early MELAS lesions and supports the hypothesis that mitochondrial metabolic dysfunction may precedes abnormalities on DWI...
- Analysis of a polycytosine tract and heteroplasmic length variation in the mitochondrial DNA D-loop of patients with diabetes, MELAS syndrome and race-matched controlsR Gill-Randall
Department of Medicine, University of Wales College of Medicine and School of Applied Sciences, University of Wales Institute of Cardiff, Cardiff, UK
Diabet Med 18:413-6. 2001..CONCLUSIONS: We conclude that these variants are likely to represent normal polymorphisms and that previously reported associations should be treated with caution unless they can be replicated in other populations...
- Serial diffusion-weighted imaging in MELAST Ohshita
Third Department of Internal Medicine, Hiroshima University School of Medicine, Japan
Neuroradiology 42:651-6. 2000..The ADC of the lesions, which disappeared almost completely with clinical improvement, returned to normal levels, which may reflect tissue recovery without severe damage. To our knowledge, this is the first study of DWI in MELAS...
- Prenatal diagnosis of myopathy, encephalopathy, lactic acidosis, and stroke-like syndrome: contribution to understanding mitochondrial DNA segregation during human embryofetal developmentC Bouchet
Department of Genetics, Hopital Necker Enfants Malades, Paris, France
J Med Genet 43:788-92. 2006..Very few data are available with respect to prenatal diagnosis of this serious disease. The rate of mutant versus wild-type mtDNA (heteroplasmy) in fetal DNA is indeed considered to be a poor indicator of postnatal outcome...
- Can diffusion weighted magnetic resonance imaging help differentiate stroke from stroke-like events in MELAS?C Oppenheim
Department of Neuroradiology, Groupe Hospitalier Pitie Salpetriere, Paris VI University, 47 Boulevard de l Hopital, 75651 Paris, Cedex 13, France
J Neurol Neurosurg Psychiatry 69:248-50. 2000..Normal or increased apparent diffusion coefficient values within 48 hours of a neurological deficit of abrupt onset should raise the possibility of MELAS, especially if conventional MR images show infarct-like lesions...
- Precipitation of stroke-like event by chickenpox in a child with MELAS syndromeLiu Jian-Ren
Department of Neurology, Second Affiliated Hospital, School of Medicine, Zhejiang University, China
Neurol India 53:323-5. 2005....
- Pathophysiologic evaluation of MELAS strokes by serially quantified MRS and CASL perfusion imagesTetsuya Tsujikawa
Biomedical Imaging Research Center, University of Fukui, Japan
Brain Dev 32:143-9. 2010....
- Varying loads of the mitochondrial DNA A3243G mutation in different tissues: implications for diagnosisSara Shanske
Department of Neurology, Columbia University College of Physicians and Surgeons, New York, New York 10032, USA
Am J Med Genet A 130:134-7. 2004..We conclude that urinary sediment and cheek mucosa are tissues of choice for the diagnosis of mtDNA mutations, as they are easy to obtain and the mutation load is almost always greater than in blood...
- Evolution of brain imaging abnormalities in mitochondrial encephalomyopathy with lactic acidosis and stroke-like episodesWenya Linda Bi
Department of Neurobiology, Yale School of Medicine, New Haven, Connecticut, USA
J Neuroophthalmol 26:251-6. 2006..The patient's visual function improved, but severe atrophy of gray and white matter was visible on MRI...
- Serial diffusion imaging in a case of mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodesCharalampos Tzoulis
Department of Neurology, Haukeland University Hospital, Bergen, Norway
Stroke 40:e15-7. 2009..There are, however, 3 recent reports of restricted diffusion in the acute phase of the stroke-like lesions. The purpose of our study was to investigate this apparent paradox...
- Resistance to cisatracurium in a patient with MELAS syndromeMarie T Aouad
Department of Anaesthesiology, American University of Beirut Medical Centre, Beirut, Lebanon
Paediatr Anaesth 15:1124-7. 2005..We present a patient with MELAS syndrome who underwent Nissen fundoplication and gastrojejunostomy...
- A novel mutation in the mitochondrial 16S rRNA gene in a patient with MELAS syndrome, diabetes mellitus, hyperthyroidism and cardiomyopathyR H Hsieh
Department of Biochemistry and Center for Cellular and Molecular Biology, School of Life Science, National Yang-Ming University, Taipei, Taiwan, ROC
J Biomed Sci 8:328-35. 2001..transversion together with the A3243G transition of mtDNA impaired the respiratory function of mitochondria and caused the atypical MELAS syndrome associated with diabetes mellitus, hyperthyroidism and cardiomyopathy in this patient.
- The mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episode syndrome-associated human mitochondrial tRNALeu(UUR) mutation causes aminoacylation deficiency and concomitant reduced association of mRNA with ribosomesA Chomyn
Division of Biology, California Institute of Technology, Pasadena, California 91125, USA
J Biol Chem 275:19198-209. 2000....
- Codon-specific translational defect caused by a wobble modification deficiency in mutant tRNA from a human mitochondrial diseaseYohei Kirino
Department of Chemistry and Biotechnology, Graduate School of Engineering, University of Tokyo, 7 3 1 Hongo, Bunkyo ku, Tokyo 113 8656, Japan
Proc Natl Acad Sci U S A 101:15070-5. 2004..We thus concluded that the UUG codon-specific translational defect of the mutant mt tRNAs(Leu(UUR)) is the primary cause of MELAS at the molecular level. This result could explain the complex I deficiency observed clinically in MELAS...
- Decrease of 3243 A-->G mtDNA mutation from blood in MELAS syndrome: a longitudinal studyS Rahman
Metabolic Unit, Institute of Child Health, London, United Kingdom
Am J Hum Genet 68:238-40. 2001..0015, paired t-test). These results suggest that mutant mtDNA is slowly selected from rapidly dividing blood cells in MELAS...
- Mitochondrial encephalomyopathiesS DiMauro
H Houston Merritt Clinical Research Center for Muscular Dystrophy and Related Diseases, College of Physicians and Surgeons, Columbia University, New York, NY
Arch Neurol 50:1197-208. 1993....
- Insulin resistance in patients with the mitochondrial tRNA(Leu(UUR)) gene mutation at position 3243Regine Becker
Department of Internal Medicine, University of Giessen, Germany
Exp Clin Endocrinol Diabetes 110:291-7. 2002..The aim of the present investigation was to study the insulin sensitivity index (SI), insulin secretion (AIR(Glucose)) and glucose effectiveness (Sg) in patients with the 3243-mutation...
- Clinical and genetic features in a MELAS child with a 3271T>C mutationHsiao Feng Chou
Department of Pediatrics, Kaohsiung Medical University Hospital, Kaohsiung, Taiwan
Pediatr Neurol 38:143-6. 2008..The results suggest that urinary sediments may be an alternative tissue of choice which can be obtained noninvasively in the diagnosis of mitochondrial DNA 3271T>C mutations...
- Decreased aminoacylation of mutant tRNAs in MELAS but not in MERRF patientsG V Börner
Max Planck Institute for Evolutionary Anthropology, Inselstrasse 22, D 04103 Leipzig, Germany
Hum Mol Genet 9:467-75. 2000..amounts and states of aminoacylation of mutant and wild-type tRNAs in tissue samples from patients with MELAS syndrome (mito- chondrial myopathy, encephalopathy, lactic acidosis, stroke-like episodes) and MERRF syndrome (..
- Response to sumatriptan in headache of MELAS syndromeTakahiro Iizuka
Department of Medicine Neurology, School of Medicine, Kitasato University, Kanagawa, Japan
Neurology 61:577-8. 2003
- MELAS: a mitochondrial disorder in an adult patient with a renal transplantStephan R Lederer
KfH Nierenzentrum München West and Nephrologisches Zentrum, Klinikum der Universitat Munchen, Munich, Germany
Wien Klin Wochenschr 122:363-5. 2010..This case report describes a 58-year-old patient with a 40-year course of a multisystemic illness representing the diagnostic challenges of mitochondrial disease...
- Screening of common mitochondrial mutations in Chinese patients with mitochondrial encephalomyopathiesYu Qi
Central Laboratory, Peking University First Hospital, Beijing, PR China
Mitochondrion 7:147-50. 2007..For A3243G mutation, the proportion of mutant mtDNA was not related to severity of the disease but to the age of onset...
- Diversity of clinical symptoms in A3243G mitochondrial DNA mutation (MELAS syndrome mutation)Maciej Pronicki
Department of Pathology, Children s Memorial Health Institute, Warsaw, Poland
Med Sci Monit 8:CR767-73. 2002..MELAS (mitochondrial myopathy, lactic acidosis and stroke-like episodes) is one of the most common mitochondrial encephalomyopathies...
- Prevalence, segregation, and phenotype of the mitochondrial DNA 3243A>G mutation in childrenJohanna Uusimaa
Department of Paediatrics, University of Oulu, Oulu, Finland
Ann Neurol 62:278-87. 2007..We studied the prevalence, segregation, and phenotype of the mitochondrial DNA 3243A>G mutation in children in a defined population in Northern Ostrobothnia, Finland...
- The role of complex I genes in MELAS: a novel heteroplasmic mutation 3380G>A in ND1 of mtDNARita Horvath
Friedrich Baur Institute, Department of Neurology, Ludwig Maximilians University, Munich, Ziemssenstr 1, 80336 Munich, Germany
Neuromuscul Disord 18:553-6. 2008..These findings support the significant role of complex I mutations in MELAS...
- Minisequencing mitochondrial DNA pathogenic mutationsVanesa Alvarez-Iglesias
Unidade de Xenetica, Instituto de Medicina Legal, Facultad de Medicina, Universidad de Santiago de Compostela, Galicia, Spain
BMC Med Genet 9:26. 2008..In order to overcome technical problems related to the analysis of complete mtDNA genomes, a variety of different techniques have been proposed that allow the screening of coding region pathogenic mutations...
- Gastrointestinal tract involvement associated with the 3243A>G mitochondrial DNA mutationJ Betts
Mitochondrial Research Group, The Medical School, Framlington Place, University of Newcastle upon Tyne, Newcastle upon Tyne, NE2 4HH, UK
Neurology 70:1290-2. 2008
- A novel mutation in the mitochondrial tRNA(Ser(AGY)) gene associated with mitochondrial myopathy, encephalopathy, and complex I deficiencyL J C Wong
J Med Genet 43:e46. 2006..To identify molecular defects in a girl with clinical features of MELAS (mitochondrial encephalomyopathy and lactic acidosis) and MERRF (ragged-red fibres) syndromes...
- The G13513A mutation in the ND5 gene of mitochondrial DNA as a common cause of MELAS or Leigh syndrome: evidence from 12 casesSara Shanske
Department of Neurology, Columbia University Medical Center, New York, NY 10032, USA
Arch Neurol 65:368-72. 2008..Among these, mutations in the ND5 gene (OMIM 516005) of mitochondrial DNA are important, and the A13513A change has emerged as a hotspot...
- A novel tRNA(Val) mitochondrial DNA mutation causing MELASKurenai Tanji
Department of Pathology, College of Physicians and Surgeons, Columbia University, New York, NY, USA
J Neurol Sci 270:23-7. 2008..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...
- Mitochondrial mutation in a child with distal arthrogryposisElizabeth McPherson
Marshfield Clinic, Marshfield, Wisconsin 54449, USA
Am J Med Genet A 140:184-5. 2006..While the observation of MELAS in a child with distal arthrogryposis could be co-incidental, it raises concern about the possible role of mitochondrial myopathy or neuropathy in causation of distal arthrogryposis...
- Inheritance of mitochondrial DNA recombinants in double-heteroplasmic families: potential implications for phylogenetic analysisGabor Zsurka
Department of Epileptology, University Bonn Medical Center, Bonn, Germany
Am J Hum Genet 80:298-305. 2007..We therefore propose that certain reticulations of the human mtDNA phylogenetic tree might be explained by recombination of coexisting mtDNA molecules harboring multiple mutations...
- MELAS masquerading as a systemic vasculitisMatthew B Carroll
Wilford Hall Medical Center, Lackland AFB, TX
J Clin Rheumatol 13:334-7. 2007..This case illustrates the importance of considering a mitochondrial genetic disorder in the differential diagnosis of patients who present to Rheumatologists with suspected unusual or atypical vasculitic symptoms...
- Analysis of mitochondrial DNA sequences in childhood encephalomyopathies reveals new disease-associated variantsAijaz A Wani
National Centre for Cell Science, Pune, India
PLoS ONE 2:e942. 2007..We analyzed the mtDNA sequences from a group of 23 pediatric patients with clinical and morphological features of mitochondrial encephalopathies and tried to establish a relationship of identified variants with the disease...
- Diagnostic challenges of mitochondrial DNA disordersLee Jun C Wong
Department of Molecular and Human Genetics, Baylor College of Medicine, One Baylor Plaza, NAB 2015, Houston, TX 77030, USA
Mitochondrion 7:45-52. 2007....
- [Gene expression profiling of classic mitochondrial disorders. Its value in finding therapeutic strategies]S Mende
Klinik und Poliklinik fur Neurologie, Technische Universitat Dresden
Nervenarzt 78:1155-9. 2007..This review article focuses on the most recent gene expression profiling studies in the field of classic mitochondrial disorders...
- Alteration in the copy number of mitochondrial DNA in leukocytes of patients with mitochondrial encephalomyopathiesC S Liu
Vascular and Genomic Research Center, Changhua Christian Hospital, Changhua, Taiwan
Acta Neurol Scand 113:334-41. 2006....
- Mutations in the ND5 subunit of complex I of the mitochondrial DNA are a frequent cause of oxidative phosphorylation diseaseM J Blok
Department of Clinical Genetics, University Hospital, Maastricht, The Netherlands
J Med Genet 44:e74. 2007..However, mutations in other mtDNA regions can be an important cause of oxidative phosphorylation (OXPHOS) disease as well...
- An infant with a mitochondrial A3243G mutation demonstrating the MELAS phenotypeTakeshi Kanaumi
Department of Pediatrics, School of Medicine, Fukuoka University, Fukuoka, Japan
Pediatr Neurol 34:235-8. 2006..This case suggests that MELAS can develop in early infancy with its typical clinical presentation. The high percentage of A3243G may contribute to the early onset of the MELAS phenotype in this patient...
- A boy with muscle weakness, hypercarbia, and the mitochondrial DNA A3243G mutationRussell P Saneto
Division of Pediatric Neurology, Children s Hospital and Regional Medical Center University of Washington, Seattle, USA
J Child Neurol 21:77-9. 2006..This case demonstrates that isolated muscle weakness in the context of other organ system abnormalities should make the investigator consider MELAS. (J Child Neurol 2006;21:77-79)...
- Apoptosis in mitochondrial myopathies is linked to mitochondrial proliferationKarine Aure
Institut National de la Sante et de la Recherche Medicale, U582, HP, CHU Pitie Salpetriere, Institut de Myologie, Paris, France
Brain 129:1249-59. 2006..It is tightly linked to mitochondrial proliferation and high mutation load. When considering training therapeutics, one will have to take into account the possibility to induce apoptosis in parallel to mitochondrial proliferation...
- Detection of common disease-causing mutations in mitochondrial DNA (mitochondrial encephalomyopathy, lactic acidosis with stroke-like episodes MTTL1 3243 A>G and myoclonic epilepsy associated with ragged-red fibers MTTK 8344A>G) by real-time polymerHongxin Fan
Department of Pathology and Laboratory Medicine, The University of North Carolina, Chapel Hill, 27599 7525, USA
J Mol Diagn 8:277-81. 2006..This LightCycler assay is a rapid and reliable technique for molecular diagnosis of these mitochondrial gene mutations...
- Mitochondrial defects in neurodegenerative diseaseD C Wallace
Center for Molecular Medicine, Emory University School of Medicine, Atlanta, Georgia, USA
Ment Retard Dev Disabil Res Rev 7:158-66. 2001....
- Infantile presentation of the mtDNA A3243G tRNA(Leu (UUR)) mutationE J Okhuijsen-Kroes
Nijmegen Center for Mitochondrial Disorders at the Department of Pediatrics, University Medical Center Nijmegen, The Netherlands
Neuropediatrics 32:183-90. 2001..This mutation is often related to MELAS syndrome. However, not all patients with the A3243G mutation share the same clinical disease expression and, on the ..
- New insights into the bioenergetics of mitochondrial disorders using intracellular ATP reportersCarl D Gajewski
Department of Neurology and Neuroscience, Weill Medical College, Cornell University, New York, New York 10021, USA
Mol Biol Cell 14:3628-35. 2003..The severe decrease in nuclear ATP content under "OXPHOS-only" conditions implies that depletion of nuclear ATP plays an important, and hitherto unappreciated, role in patients with mitochondrial dysfunction...
- Prevalence and progression of mitochondrial diseases: a study of 50 patientsJavier Arpa
Department of Neurology, La Paz Hospital, Paseo de la Castellana 261, 28046 Madrid, Spain
Muscle Nerve 28:690-5. 2003..01). Age of onset and gender were not associated with differences in survival. Mitochondrial disease is thus far more common than expected and a common cause of chronic morbidity...
- Characterization of an essential mitochondrial rRNA methyltransferaseKip E Guja; Fiscal Year: 2013..The goal of this proposal is to provide a more complete understanding of how TFB proteins influence disease pathogenesis by elucidating the roles that they play in mitochondrial gene expression. ..
- NEWBORN SCREENING BY MULTIPLEX MOLECULAR ANALYSISEdwin Naylor; Fiscal Year: 2002..b>MELAS Syndrome A3243G; 6) Long Chain 3-hydroxy Acyl Co-A Dehydrogenase Deficiency T919C, C1024T, G1528C, C1570T, 675insC, ..
- Siblings With Ischemic Stroke Study (SWISS)JAMES MESCHIA; Fiscal Year: 2009..DNA banking and the creation of permanent lymphoblastoid cell lines will be done to permit future collaborative efforts to study the genetic basis for stroke risk. ..
- EFFECT OF DIABETES AND HYPERTENSION ON ISCHEMIC INJURYStephen Schaffer; Fiscal Year: 2003..Cell culture studies will be complimented by studies using an isolated heart model to test the hypothesis that hypertensive diabetic hearts will be more susceptible to an ischemic insole because of elevated levels of angiotensin. ..
- ISGS: The Ischemic Stroke Genetics StudyJAMES MESCHIA; Fiscal Year: 2006..The application and SWISS share the same definitions for the present and absence of phenotype and key enrollment criteria. ..
- ID OF THE MOUSE DEAFNESS (DN) GENE ON CHROMOSOME 19Bronya Keats; Fiscal Year: 2002..The deafness mouse is a model for nonsyndromic profound hearing impairment, and identifying the defective gene will be a valuable contribution to our understanding of the genes needed for normal cochlear function. ..
- Anaplerotic therapy in Propionic AcidemiaNicola Longo; Fiscal Year: 2008..This approach, if effective, could be extended to a number of other diseases, including other organic acidemias and mitochondrial disorders. [unreadable] [unreadable] [unreadable]..
- THE CARNITINE TRANSPORTER IN HUMAN DISEASENicola Longo; Fiscal Year: 2010....
- The Role of Mitochondrial DNA Alterations in CancerLee Jun Wong; Fiscal Year: 2008..Results from this research project will help us understand the functional role of mitochondrial DNA alterations in cancer and identify potential novel targets for more effective therapeutic development. ..
- CLINICAL RESEARCH CENTER FOR NEUROMUSCULAR DISEASESalvatore DiMauro; Fiscal Year: 2007....