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    876 results match your criteria Metabolic Disease & Stroke - MELAS

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    Anatomic & metabolic brain markers of the m.3243A>G mutation: A multi-parametric 7T MRI study.
    Neuroimage Clin 2018 31;18:231-244. Epub 2018 Jan 31.
    Department of Cognitive Neuroscience, Maastricht University, PO Box 616, 6200MD Maastricht, Netherlands.
    One of the most common mitochondrial DNA (mtDNA) mutations, the A to G transition at base pair 3243, has been linked to changes in the brain, in addition to commonly observed hearing problems, diabetes and myopathy. However, a detailed quantitative description of m.3243A>G patients' brains has not been provided so far. Read More
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    Effects and Mechanisms of Taurine as a Therapeutic Agent.
    Biomol Ther (Seoul) 2018 May;26(3):225-241
    Department of Life Science, University of Seoul, Seoul 02504, Republic of Korea.
    Taurine is an abundant, β-amino acid with diverse cytoprotective activity. In some species, taurine is an essential nutrient but in man it is considered a semi-essential nutrient, although cells lacking taurine show major pathology. These findings have spurred interest in the potential use of taurine as a therapeutic agent. Read More
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    MT-ND5 Mutation Exhibits Highly Variable Neurological Manifestations at Low Mutant Load.
    EBioMedicine 2018 Apr 24;30:86-93. Epub 2018 Feb 24.
    Wellcome Centre for Mitochondrial Research, Institute of Neuroscience, Newcastle University, Newcastle upon Tyne, UK. Electronic address:
    Mutations in the m.13094T>C MT-ND5 gene have been previously described in three cases of Leigh Syndrome (LS). In this retrospective, international cohort study we identified 20 clinically affected individuals (13 families) and four asymptomatic carriers. Read More
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    A urinary biosignature for mitochondrial myopathy, encephalopathy, lactic acidosis and stroke like episodes (MELAS).
    Mitochondrion 2018 Feb 19. Epub 2018 Feb 19.
    Mitochondria Research Laboratory, Centre for Human Metabolomics, North-West University, Potchefstroom, South Africa. Electronic address:
    We used a comprehensive metabolomics approach to study the altered urinary metabolome of two mitochondrial myopathy, encephalopathy lactic acidosis and stroke like episodes (MELAS) cohorts carrying the m.3243A>G mutation. The first cohort were used in an exploratory phase, identifying 36 metabolites that were significantly perturbed by the disease. Read More
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    8-year retrospective analysis of intravenous arginine therapy for acute metabolic strokes in pediatric mitochondrial disease.
    Mol Genet Metab 2018 Mar 2;123(3):301-308. Epub 2018 Feb 2.
    Division of Human Genetics, The Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA; Department of Pediatrics, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA 19104, USA. Electronic address:
    Background: Intravenous (IV) arginine has been reported to ameliorate acute metabolic stroke symptoms in adult patients with Mitochondrial Encephalopathy with Lactic Acidosis and Stroke-like Episodes (MELAS) syndrome, where its therapeutic benefit is postulated to result from arginine acting as a nitric oxide donor to reverse vasospasm. Further, reduced plasma arginine may occur in mitochondrial disease since the biosynthesis of arginine's precursor, citrulline, requires ATP. Metabolic strokes occur across a wide array of primary mitochondrial diseases having diverse molecular etiologies that are likely to share similar pathophysiologic mechanisms. Read More
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    Targeted elimination of mutant mitochondrial DNA in MELAS-iPSCs by mitoTALENs.
    Protein Cell 2018 Mar 9;9(3):283-297. Epub 2018 Jan 9.
    Key Laboratory for Major Obstetric Diseases of Guangdong Province, Key Laboratory of Reproduction and Genetics of Guangdong Higher Education Institutes, The Third Affiliated Hospital of Guangzhou Medical University, Guangzhou, 510150, China.
    Mitochondrial diseases are maternally inherited heterogeneous disorders that are primarily caused by mitochondrial DNA (mtDNA) mutations. Depending on the ratio of mutant to wild-type mtDNA, known as heteroplasmy, mitochondrial defects can result in a wide spectrum of clinical manifestations. Mitochondria-targeted endonucleases provide an alternative avenue for treating mitochondrial disorders via targeted destruction of the mutant mtDNA and induction of heteroplasmic shifting. Read More
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    Isolated and repeated stroke-like episodes in a middle-aged man with a mitochondrial ND3 T10158C mutation: a case report.
    BMC Neurol 2017 Dec 13;17(1):217. Epub 2017 Dec 13.
    Department of Medicine and Clinical Science, Graduate School of Medical Sciences, Kyushu University, 3-1-1 Maidashi, Higashi-ku, Fukuoka, 812-8582, Japan.
    Background: Mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episodes (MELAS) syndrome, is the most common phenotype of mitochondrial disease. It often develops in childhood or adolescence, usually before the age of 40, in a maternally-inherited manner. Mutations in mitochondrial DNA (mtDNA) are frequently responsible for MELAS. Read More
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    Inflexibility of AMPK-mediated metabolic reprogramming in mitochondrial disease.
    Oncotarget 2017 Sep 1;8(43):73627-73639. Epub 2017 Sep 1.
    Department of Neurosurgery, Mackay Memorial Hospital, Taipei, Taiwan.
    Mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes (MELAS) syndrome is most commonly caused by the A3243G mutation of mitochondrial DNA. The capacity to utilize fatty acid or glucose as a fuel source and how such dynamic switches of metabolic fuel preferences and transcriptional modulation of adaptive mechanism in response to energy deficiency in MELAS syndrome have not been fully elucidated. The fibroblasts from patients with MELAS syndrome demonstrated a remarkable deficiency of electron transport chain complexes I and IV, an impaired cellular biogenesis under glucose deprivation, and a decreased ATP synthesis. Read More
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    Focal segmental glomerulosclerosis associated with mitochondrial disease.
    Clin Nephrol Case Stud 2017 3;5:20-25. Epub 2017 Mar 3.
    Department of Genetics and Pediatrics, Massachusetts General Hospital, Harvard Medical School, Boston, MA, USA.
    Primary mitochondrial diseases (MD) are complex, heterogeneous inherited diseases caused by mutations in either the mitochondrial or nuclear DNA. Glomerular diseases in MD have been reported with tRNA mutation m.3243A>G causing a syndrome of mitochondrial encephalomyopathy, lactic acidosis and stroke-like episodes (MELAS). Read More
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    Pathology of mitochondria in MELAS syndrome: an ultrastructural study.
    Pol J Pathol 2017;68(2):173-181
    Ultrastructural changes in skeletal muscle biopsy in a 24-year-old female patient with clinically suspected mitochondrial encephalomyopathy lactic acidosis and stroke-like episodes (MELAS) syndrome are presented. We observed proliferation and/or pleomorphism of mitochondria in skeletal muscle and smooth muscle cells of arterioles, as well as in pericytes of capillaries. Paracrystalline inclusions were found only in damaged mitochondria of skeletal muscle. Read More
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    Defective mitochondrial rRNA methyltransferase MRM2 causes MELAS-like clinical syndrome.
    Hum Mol Genet 2017 Nov;26(21):4257-4266
    Medical Research Council Mitochondrial Biology Unit, University of Cambridge, Cambridge CB2 0XY, UK.
    Defects in nuclear-encoded proteins of the mitochondrial translation machinery cause early-onset and tissue-specific deficiency of one or more OXPHOS complexes. Here, we report a 7-year-old Italian boy with childhood-onset rapidly progressive encephalomyopathy and stroke-like episodes. Multiple OXPHOS defects and decreased mtDNA copy number (40%) were detected in muscle homogenate. Read More
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    MELAS syndrome associated with a new mitochondrial tRNA-Val gene mutation (m.1616A>G).
    BMJ Case Rep 2017 Sep 11;2017. Epub 2017 Sep 11.
    Department of Neurology, Gifu Municipal Hospital, Gifu City, Japan.
    We describe the case of a 40-year-old-man with mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episodes (MELAS) syndrome, with cardiomyopathy and severe heart failure. He had a mitochondrial transfer RNA (tRNA) mutation (m.1616A>G) of the (tRNA-Val) gene, and it was not found in MELAS syndrome ever before. Read More
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    Black Toenail Sign in MELAS Syndrome.
    Pediatr Neurol 2017 Oct 12;75:61-65. Epub 2017 Jul 12.
    Department of Neurology, Children's National Medical Center, Washington, District of Columbia.
    Background: Mitochondrial encephalopathy with lactic acidosis and stroke-like episodes (MELAS) syndrome is a mitochondrial disorder often causing progressive brain injury that is not confined to large arterial territories. Severe insults ultimately lead to gyral necrosis affecting the cortex and juxtacortical white matter; the neuroimaging correlate is partial gyral signal suppression on T2/FLAIR sequences that resemble black toenails. We aimed to characterize the imaging features and the natural history of MELAS-related gyral necrosis. Read More
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    Arginine and citrulline for the treatment of MELAS syndrome.
    J Inborn Errors Metab Screen 2017 Jan 24;5. Epub 2017 Mar 24.
    Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA.
    MELAS (mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes) syndrome is a maternally inherited mitochondrial disease with a broad spectrum of manifestations. In addition to impaired energy production, nitric oxide (NO) deficiency occurs in MELAS syndrome and leads to impaired blood perfusion in microvasculature that can contribute to several complications including stroke-like episodes, myopathy, and lactic acidosis. The supplementation of NO precursors, L-arginine and L-citrulline, increases NO production and hence can potentially have therapeutic utility in MELAS syndrome. Read More
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    Mitochondrial dysfunction and cerebral metabolic abnormalities in patients with mitochondrial encephalomyopathy subtypes: Evidence from proton MR spectroscopy and muscle biopsy.
    CNS Neurosci Ther 2017 Aug 11;23(8):686-697. Epub 2017 Jul 11.
    Department of Neurology, Drum Tower Hospital, Medical School of Nanjing University, Nanjing, Jiangsu, China.
    Aims: Accumulated evidence indicates that cerebral metabolic features, evaluated by proton magnetic resonance spectroscopy ( 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 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. Read More
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    Cortical venous disease severity in MELAS syndrome correlates with brain lesion development.
    Neuroradiology 2017 Aug 30;59(8):813-818. Epub 2017 Jun 30.
    Department of Neurology, Children's National Medical Center, Washington, DC, 20010, USA.
    Purpose: MELAS syndrome is a mitochondrial disorder typified by recurrent stroke-like episodes, seizures, and progressive brain injury. Abnormal mitochondria have been found in arterial walls implicating a vasculogenic etiology. We have observed abnormal cortical vein T2/FLAIR signal in MELAS patients, potentially representing wall thickening and sluggish flow. Read More
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    The clinical and genetic characteristics in children with mitochondrial disease in China.
    Sci China Life Sci 2017 Jul 16;60(7):746-757. Epub 2017 Jun 16.
    Department of Neurology, Beijing Children's Hospital, Capital Medical University, National Center for Children's Health, Beijing, 100045, China.
    Mitochondrial disease was a clinically and genetically heterogeneous group of diseases, thus the diagnosis was very difficult to clinicians. Our objective was to analyze clinical and genetic characteristics of children with mitochondrial disease in China. We tested 141 candidate patients who have been suspected of mitochondrial disorders by using targeted next-generation sequencing (NGS), and summarized the clinical and genetic data of gene confirmed cases from Neurology Department, Beijing Children's Hospital, Capital Medical University from October 2012 to January 2015. Read More
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    Intramyocellular lipid excess in the mitochondrial disorder MELAS: MRS determination at 7T.
    Neurol Genet 2017 Jun 25;3(3):e160. Epub 2017 May 25.
    Rare Brain Disorders Program (S.G., J.M.P.), Department of Neurology and Neurotherapeutics, Department of Pediatrics (S.G., J.M.P.), Advanced Imaging Research Center (J.R., C.R.M.), Department of Radiology (J.R., C.R.M.), Department of Internal Medicine (C.R.M.), Department of Physiology (J.M.P.), and Eugene McDermott Center for Human Growth & Development/Center for Human Genetics (J.M.P.), The University of Texas Southwestern Medical Center, Dallas.
    Objective: There is a paucity of objective, quantifiable indicators of mitochondrial disease available for clinical and scientific investigation.

    Methods: To this end, we explore intramyocellular lipid (IMCL) accumulation noninvasively by 7T magnetic resonance spectroscopy (MRS) as a reporter of metabolic dysfunction in MELAS (mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes). We reasoned that mitochondrial dysfunction may impair muscle fat metabolism, resulting in lipid deposition (as is sometimes observed in biopsies), and that MRS is well suited to quantify these lipids. Read More
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    Assessment of Nitric Oxide Production in Mitochondrial Encephalomyopathy, Lactic Acidosis, and Stroke-Like Episodes Syndrome with the Use of a Stable Isotope Tracer Infusion Technique.
    J Nutr 2017 07 17;147(7):1251-1257. Epub 2017 May 17.
    US Department of Agriculture/Agricultural Research Service, Children's Nutrition Research Center, Department of Pediatrics, Baylor College of Medicine, Houston, TX
    Mitochondrial disorders result from dysfunctional mitochondria that are unable to generate sufficient energy to meet the needs of various organs. Mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes (MELAS) syndrome is one of the most frequent maternally inherited mitochondrial disorders. There is growing evidence that nitric oxide (NO) deficiency occurs in MELAS syndrome and results in impaired blood perfusion that contributes significantly to several complications in this disease. Read More
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    Identification of FASTKD2 compound heterozygous mutations as the underlying cause of autosomal recessive MELAS-like syndrome.
    Mitochondrion 2017 07 9;35:54-58. Epub 2017 May 9.
    Department of Biological Sciences, Kongju National University, Gongju, Republic of Korea. Electronic address:
    Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes (MELAS) is a condition that affects many parts of the body, particularly the brain and muscles. This study examined a Korean MELAS-like syndrome patient with seizure, stroke-like episode, and optic atrophy. Target sequencing of whole mtDNA and 73 nuclear genes identified compound heterozygous mutations p. Read More
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    Familial Pernicious Chronic Intestinal Pseudo-obstruction with a Mitochondrial DNA A3243G Mutation.
    Intern Med 2017 1;56(9):1089-1093. Epub 2017 May 1.
    Department of Neurology, TOYOTA Memorial Hospital, Japan.
    We report the case of a mother and two children who shared a mitochondrial DNA A3243G mutation. The mother had diabetes mellitus, neurogenic bladder, bradykinesia, dystonia, and slowly progressive cerebellar ataxia. Her two daughters were diagnosed with mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes at adolescence. Read More
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    Case 13-2017. A 41-Year-Old Man with Hearing Loss, Seizures, Weakness, and Cognitive Decline.
    N Engl J Med 2017 04;376(17):1668-1678
    From the Departments of Neurology (H.M.R.), Radiology (W.A.C.), Pediatrics (A.K.), and Pathology (D.H.O.), Massachusetts General Hospital, and the Departments of Neurology (H.M.R.), Radiology (W.A.C.), Pediatrics (A.K.), and Pathology (D.H.O.), Harvard Medical School - both in Boston.
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    Anesthetic Management of Mitochondrial Encephalopathy With Lactic Acidosis and Stroke-Like Episodes (MELAS Syndrome) in a High-Risk Pregnancy: A Case Report.
    A A Case Rep 2017 Jul;9(2):38-41
    From the *Department of Anesthesiology, University of Toronto; and †Department of Anesthesia and Pain Management, Mount Sinai Hospital, Toronto, Ontario, Canada.
    MELAS syndrome (mitochondrial encephalopathy, lactic acidosis, and stroke-like symptoms) is a rare and complex mitochondrial disorder. We present the in-hospital course of a 36-year-old gravida 2, para 0 with MELAS syndrome and severe preeclampsia, complicated by hyponatremia, hyperkalemia, and diabetes. A retained placenta with postpartum hemorrhage required urgent instrumental delivery under spinal anesthesia, transfusion, and intensive care unit admission for pulmonary edema, effusions, and atelectasis. Read More
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    Late onset MELAS with m.3243A > G mutation and its association with aneurysm formation.
    Metab Brain Dis 2017 Aug 21;32(4):1069-1072. Epub 2017 Mar 21.
    Department of Neurology, First Affiliated Hospital of China Medical University, No. 155 Nanjing North Street, Heping District, Shenyang, Liaoning, 110001, China.
    We reported a 53-year-old with late-onset mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes (MELAS) accompanied by aneurysm and large vessel dilations. Most studies have focused on microangiopathy causing stroke-like episodes. We report a case to describe large vessel involvement in clinical considerations, and possible mechanisms of aneurysm formation. Read More
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    Kidney involvement in MELAS syndrome: Description of 2 cases.
    Med Clin (Barc) 2017 Apr 7;148(8):357-361. Epub 2017 Mar 7.
    Servei de Nefrologia i Trasplantament Renal, Hospital Clínic, Universidad de Barcelona, Barcelona, España. Electronic address:
    Introduction: MELAS syndrome -myopathy, encephalopathy, lactic acidosis and stroke-like episodes- is a maternally-inherited mitochondrial cytopathy related to several mitochondrial DNA mutations, with the A3243G mutation in tRNA gene being the most frequent of them.

    Patients And Methods: Apart from its typical symptomatology, patients usually exhibit a maternally-inherited history of neurosensory deafness and insulin-dependent type 2 diabetes mellitus (T2DM). Recent studies have shown that few patients carrying a A3243G mutation also suffer from renal dysfunction, usually in form of focal segmental glomerulosclerosis (FSGS). Read More
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    Uncommon mutation in mitochondrial encephalomyopathy, lactic acidosis and stroke-like episodes (MELAS).
    BMJ Case Rep 2017 Feb 27;2017. Epub 2017 Feb 27.
    Department of Neurology, Sligo University Hospital, Sligo, Ireland.
    A 26-year-old man presented to the emergency department with new-onset generalised tonic-clonic seizures. His clinical picture suggested either autoimmune or infectious encephalitis while his brain imaging raised the possibility of a stroke. A detailed developmental and childhood medical history added suspicion of a mitochondrial defect to the differential. Read More
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    [MELAS: Mitochondrial Encephalomyopathy, Lactic Acidosis and Stroke-Like Episodes].
    Brain Nerve 2017 Feb;69(2):111-117
    Department of Neurology, Showa University School of Medicine.
    Mitochondrial disease is caused by a deficiency in the energy supply to cells due to mitochondrial dysfunction. Mitochondrial encephalomyopathy, lactic acidosis and stroke-like episodes (MELAS) is a mitochondrial disease that presents with stroke-like episodes such as acute onset of neurological deficits and characteristic imaging findings. Stroke-like episodes in MELAS have the following features: 1) neurological deficits due to localization of lesions in the brain, 2) episodes often accompany epilepsy, 3) lesions do not follow the vascular supply area, 4) lesions are more often seen in the posterior brain than in the anterior brain, 5) lesions spread to an adjacent area in the brain, and 6) neurological symptoms often disappear together with imaging findings, but later relapse. Read More
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    Defects in RNA metabolism in mitochondrial disease.
    Int J Biochem Cell Biol 2017 04 9;85:106-113. Epub 2017 Feb 9.
    Harry Perkins Institute of Medical Research and Centre for Medical Research, Level 7 QQ Block, QEII Medical Centre, 6 Verdun Street, Nedlands, WA 6009, Australia; School of Molecular Sciences, The University of Western Australia, Nedlands, Western Australia 6009, Australia. Electronic address:
    The expression of mitochondrially-encoded genes requires the efficient processing of long precursor RNAs at the 5' and 3' ends of tRNAs, a process which, when disrupted, results in disease. Two such mutations reside within mt-tRNA; a m.3243A>G transition, which is the most common cause of MELAS (mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episodes), and m. Read More
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    Adult-onset Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, and Stroke (MELAS)-like Encephalopathy Diagnosed Based on the Complete Sequencing of Mitochondrial DNA Extracted from Biopsied Muscle without any Myopathic Changes.
    Intern Med 2017;56(1):95-99. Epub 2017 Jan 1.
    Department of Neurology, Tokai University School of Medicine, Japan.
    The clinical features of mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes (MELAS) are not uniform. We herein report a male patient with unusual MELAS-like encephalopathy who had been experiencing isolated recurrent stroke-like episodes since he was 33 years old without any particular family history. Despite an extensive investigation, he had no other signs suggestive of MELAS. Read More
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    Acquired Dysfibrinogenemia Caused by Autoantibody Inhibiting Fibrin Polymerization in a Patient with MELAS Syndrome and Bleeding Tendency.
    Ann Clin Lab Sci 2016 Dec;46(6):696-700
    Department of Laboratory Medicine, Seoul National University Hospital, Seoul, Korea
    We present a case of acquired dysfibrinogenemia caused by an autoantibody that inhibited fibrin polymerization in a patient previously diagnosed with MELAS (mitochondrial myopathy, encephalopathy, lactic acidosis, stroke-like episodes). The patient showed prolonged PT, aPTT, and thrombin time. There was no factor deficiency but fibrinogen antigen and activity were decreased. Read More
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    Prediction of long-term prognosis by heteroplasmy levels of the m.3243A>G mutation in patients with the mitochondrial encephalomyopathy, lactic acidosis and stroke-like episodes syndrome.
    Eur J Neurol 2017 02 21;24(2):255-261. Epub 2016 Nov 21.
    AP-HP, Pitié-Salpêtrière Hospital, Reference Centre for Muscle Diseases Paris-Est, Myology Institute, Paris, France.
    Background And Purpose: Our aim was to determine the prognostic value of urine and blood heteroplasmy in patients with the m.3243A>G mutation.

    Methods: Adults with the m. Read More
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    Cysteine Supplementation May be Beneficial in a Subgroup of Mitochondrial Translation Deficiencies.
    J Neuromuscul Dis 2016 08;3(3):363-379
    Wellcome Trust Mitochondrial Research Centre and the John Walton Muscular Dystrophy Research Centre, Institute of Genetic Medicine, Newcastle University, Central Parkway, Newcastle upon Tyne, UK.
    Background: Mitochondrial encephalomyopathies are severe, relentlessly progressive conditions and there are very few effective therapies available to date. We have previously suggested that in two rare forms of reversible mitochondrial disease (reversible infantile respiratory chain deficiency and reversible infantile hepatopathy) supplementation with L-cysteine can improve mitochondrial protein synthesis, since cysteine is required for the 2-thiomodification of mitochondrial tRNAs.

    Objectives: We studied whether supplementation with L-cysteine or N-acetyl-cysteine (NAC) results in any improvement of the mitochondrial function in vitro in fibroblasts of patients with different genetic forms of abnormal mitochondrial translation. Read More
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    The addition of ketone bodies alleviates mitochondrial dysfunction by restoring complex I assembly in a MELAS cellular model.
    Biochim Biophys Acta 2017 Jan 1;1863(1):284-291. Epub 2016 Nov 1.
    UMR CNRS 6214-INSERM U1083, Mitovasc Institute, Angers University, Angers, France; Biochemistry and Genetics Department, Angers Hospital, F-49000, France. Electronic address:
    Ketogenic Diet used to treat refractory epilepsy for almost a century may represent a treatment option for mitochondrial disorders for which effective treatments are still lacking. Mitochondrial complex I deficiencies are involved in a broad spectrum of inherited diseases including Mitochondrial Encephalomyopathy, Lactic Acidosis and Stroke-like episodes syndrome leading to recurrent cerebral insults resembling strokes and associated with a severe complex I deficiency caused by mitochondrial DNA (mtDNA) mutations. The analysis of MELAS neuronal cybrid cells carrying the almost homoplasmic m. Read More
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    Unique presentation of LHON/MELAS overlap syndrome caused by m.13046T>C in MTND5.
    Ophthalmic Genet 2016 12 19;37(4):419-423. Epub 2016 Feb 19.
    a Department of Pediatrics and Adolescent Medicine, First Faculty of Medicine , Charles University in Prague and General University Hospital in Prague , Czech Republic.
    Background: Leber hereditary optic neuropathy (LHON) and mitochondrial encephalopathy, myopathy, lactic acidosis and stroke-like episodes (MELAS) syndromes are mitochondrially inherited disorders characterized by acute visual failure and variable multiorgan system presentation, respectively.

    Materials And Methods: A 12-year-old girl with otherwise unremarkable medical history presented with abrupt, painless loss of vision. Over the next few months, she developed moderate sensorineural hearing loss, vertigo, migraines, anhedonia and thyroiditis. Read More
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    [Analysis on clinical features and functional MRI of mitochondrial encephalomyopathy with lactic acidosis and stroke-like episodes].
    Zhonghua Yi Xue Za Zhi 2016 Oct;96(37):2969-2972
    Graduate Division ofXinxiang Medical University, Xinxiang 453003, China.
    To explore the clinical and perfusion weighted imaging (PWI) characteristics of mitochondrial encephalomyopathy with lactic acidosis and stroke-like episodes (MELAS) in order to improve the early diagnosis rate. Clinical and imaging data of 46 patients with final diagnosis of MELAS treated in Henan Province People's Hospital from January 2012 to June 2016 were collected. Patients presented with symptoms of epilepsy, hemiplegia, language disorders, and decreased visual acuity and so on. Read More
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    Anesthetic considerations for renal transplant surgery in patients with mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes syndrome: a case report.
    J Clin Anesth 2016 Nov 3;34:344-7. Epub 2016 Jun 3.
    Department of Anesthesiology, The Ohio State University Wexner Medical Center, Columbus, OH, USA.
    Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes syndrome is a progressive syndrome with variable involvement of multiple-organ systems. These patients require special consideration for preoperative optimization, intraoperative management, and postoperative care. The medical literature regarding perioperative management of these patients relies heavily on case reports. Read More
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    MELAS Syndrome and Kidney Disease Without Fanconi Syndrome or Proteinuria: A Case Report.
    Am J Kidney Dis 2016 Dec 24;68(6):949-953. Epub 2016 Sep 24.
    Department of Internal Medicine III-Cardiology and Angiology, Medical University Innsbruck, Innsbruck, Austria.
    Mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes (MELAS syndrome) represents one of the most frequent mitochondrial disorders. The majority of MELAS cases are caused by m.3243A>G mutation in the mitochondrial MT-TL1 gene, which encodes the mitochondrial tRNA. Read More
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    Epilepsy Characteristics and Clinical Outcome in Patients With Mitochondrial Encephalomyopathy, Lactic Acidosis, and Stroke-Like Episodes (MELAS).
    Pediatr Neurol 2016 11 26;64:59-65. Epub 2016 Aug 26.
    Department of Pediatrics, Gangnam Severance Hospital, Yonsei University College of Medicine, Seoul, Korea; Epilepsy Research Institute, Yonsei University College of Medicine, Seoul, Korea. Electronic address:
    Background: Epileptic seizures in patients with mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes (MELAS) are heterogeneous with no pathognomonic features. We reviewed epilepsy characteristics and clinical outcome exclusively in a pediatric population.

    Methods: Twenty-two children and adolescents (13 males) with confirmed mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes due to mitochondrial DNA A3243G mutation and epilepsy were recruited. Read More
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    Posterior spinal instrumented fusion for idiopathic scoliosis in patients with multisystemic neurodegenerative disorder: a report of two cases.
    J Orthop Surg (Hong Kong) 2016 08;24(2):273-7
    Department of Orthopaedic Surgery, University of Malaya, Kuala Lumpur, Malaysia.
    Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke (MELAS) syndrome is a progressive multisystemic neurodegenerative disorder. MELAS syndrome impairs oxidative phosphorylation and predisposes patients to lactic acidosis, particularly under metabolic stress. We report 2 siblings with MELAS-associated idiopathic scoliosis who underwent posterior spinal instrumented fusion with measures taken to minimise anaesthetic and surgical stress, blood loss, and operating time. Read More
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    Stroke-like episodes, peri-episodic seizures, and MELAS mutations.
    Eur J Paediatr Neurol 2016 Nov 13;20(6):824-829. Epub 2016 Aug 13.
    Department of Genetics, King Faisal Specialist Hospital and Research Centre, Riyadh, Saudi Arabia.
    Purpose: Stroke-like episodes (SLEs) are a hallmark of various mitochondrial disorders, in particular MELAS syndrome. SLEs manifest with vasogenic oedema (DWI and ADC hyperintensity) or partial cytotoxic oedema (DWI hyperintensity, ADC hypointensity) in the acute and subacute stage, and with gyriform T1-hyperintensity (cortical necrosis) in the chronic stage.

    Principal Results: SLEs must be clearly distinguished from ischaemic stroke, since management of these two entities is different. Read More
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    Distinctive distribution of brain volume reductions in MELAS and mitochondrial DNA A3243G mutation carriers: A voxel-based morphometric study.
    Mitochondrion 2016 09 21;30:229-35. Epub 2016 Aug 21.
    Department of Neurology, Nagoya University Graduate School of Medicine, Nagoya, Japan; Nagoya University Graduate School of Medicine, Nagoya, Japan. Electronic address:
    Objective: The aim of this study was to investigate the clinically latent brain atrophy of patients with mitochondrial encephalopathy, lactic acidosis, and stroke-like episodes (MELAS) harboring a mitochondrial DNA A3243G mutation (A3243G) and A3243G carriers without stroke-like episodes (SEs).

    Methods: We used voxel-based morphometry (VBM) with magnetic resonance imaging to investigate gray matter (GM) and white matter (WM) volume reductions in four MELAS patients and in five A3243G carriers compared to 16 healthy controls. In addition, we investigated the regions of previous SEs using conventional MRI. Read More
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    Imaging of MELAS.
    Curr Pain Headache Rep 2016 Sep;20(9):54
    Neurovascular Imaging Research Core, Neuroscience Research Building, 635 Charles E Young Drive South, Suite 225, Los Angeles, CA, 90095-7334, USA.
    Mitochondrial diseases are multisystem disorders that frequently involve the central nervous system. The clinical presentation of these disorders may be challenging to differentiate from cerebrovascular disorders. Various imaging techniques are now available that provide a wide range of imaging modalities during initial clinical evaluation and throughout the disease course. Read More
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    Movement disorders in mitochondrial diseases.
    Rev Neurol (Paris) 2016 Aug - Sep;172(8-9):524-529. Epub 2016 Jul 28.
    Service de neurologie, hôpital de Hautepierre, 1, avenue Molière, 67000 Strasbourg, France; Fédération de médecine translationnelle, 67000 Strasbourg, France.
    Mitochondrial diseases (MIDs) are a large group of heterogeneous disorders due to mutations in either mitochondrial DNA (mtDNA) or nuclear DNA (nDNA) genes, the latter encoding proteins involved in mitochondrial function. A multisystem clinical picture that involves several organs, including both the peripheral and central nervous systems, is a common presentation of MID. Movement disorders, even isolated ones, are not rare. Read More
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    Neurophysiological profile of peripheral neuropathy associated with childhood mitochondrial disease.
    Mitochondrion 2016 09 27;30:162-7. Epub 2016 Jul 27.
    Institute for Neuroscience and Muscle Research and T.Y. Nelson Department of Neurology & Neurosurgery, The Children's Hospital at Westmead, Sydney, Australia; Discipline of Paediatrics and Child Health, The Children's Hospital at Westmead Clinical School, The University of Sydney, Sydney, Australia.
    Introduction: Peripheral nerve involvement is common in mitochondrial disease but often unrecognised due to the prominent central nervous system features. Identification of the underlying neuropathy may assist syndrome classification, targeted genetic testing and rehabilitative interventions.

    Methods: Clinical data and the results of nerve conduction studies were obtained retrospectively from the records of four tertiary children's hospital metabolic disease, neuromuscular or neurophysiology services. Read More
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    Acute encephalopathy of the temporal lobes leading to m.3243A>G. When MELAS is not always MELAS.
    Mitochondrion 2016 Sep 21;30:148-50. Epub 2016 Jul 21.
    Department of Clinical and Experimental Medicine, Neurological Clinic, University of Pisa, Via Roma 67, 56126 Pisa, Italy. Electronic address:
    MELAS syndrome (mitochondrial encephalopathy with lactic acidosis and stroke-like episodes) is a rare genetic condition whose differential diagnosis is often posed with juvenile stroke, but more rarely even with inflammatory/infectious encephalitis, causing diagnostic challenges. Here we report the case of a young man harbouring the m.3243A>G MELAS mutation presenting an acute onset mimicking the clinical and neuroimaging features of infective encephalitis. Read More
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