896 results match your criteria Metabolic Disease and Stroke - MELAS


Clinical profile and outcome of cardiac involvement in MELAS syndrome.

Int J Cardiol 2018 Oct 23. Epub 2018 Oct 23.

Department of Inherited Neuro-metabolic Disorders, Anna Meyer Children's Hospital, viale Pieraccini 24, 50159 Florence, Italy. Electronic address:

Background: Mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like (MELAS) syndrome is a rare condition with heterogeneous clinical presentation. Cardiac involvement commonly develops during adulthood, comprising both structural and conduction/arrhythmic abnormalities; early paediatric onset has rarely been reported. We describe the clinical profile, outcome and clinical implication of MELAS-associated cardiomyopathy at a tertiary referral centre. Read More

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https://linkinghub.elsevier.com/retrieve/pii/S01675273183494
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http://dx.doi.org/10.1016/j.ijcard.2018.10.051DOI Listing
October 2018
4 Reads

Mitochondrial disease: an uncommon but important cause of diabetes mellitus

Endocrinol Diabetes Metab Case Rep 2018 Sep 25;2018. Epub 2018 Sep 25.

Department of Endocrinology, Eastern Health, Victoria, Australia

Mitochondrial diseases are rare, heterogeneous conditions affecting organs dependent on high aerobic metabolism. Presenting symptoms and signs vary depending on the mutation and mutant protein load. Diabetes mellitus is the most common endocrinopathy, and recognition of these patients is important due to its impact on management and screening of family members. Read More

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https://edm.bioscientifica.com/view/journals/edm/2018/1/EDM1
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http://dx.doi.org/10.1530/EDM-18-0091DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6169542PMC
September 2018
6 Reads

MELAS: Monitoring treatment with magnetic resonance spectroscopy.

Acta Neurol Scand 2019 Jan 8;139(1):82-85. Epub 2018 Oct 8.

LAC Olive View, UCLA Medical Center, Sylmar, California.

Background: To assess the utility of Magnetic Resonance Spectroscopy (MRS) as a biomarker of response to L-arginine in mitochondrial encephalomyopathy with lactic acidosis and stroke-like episodes (MELAS).

Aims: To describe a case of MELAS treated with L-arginine that showed improvement clinically and on serial MRS METHODS: MRS was performed on a 1.5-Tesla scanner to evaluate a MELAS patient before, during, and after intravenous (IV) L-arginine therapy for the treatment of stroke-like episodes. Read More

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http://doi.wiley.com/10.1111/ane.13027
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http://dx.doi.org/10.1111/ane.13027DOI Listing
January 2019
7 Reads

Different mitochondrial genetic defects exhibit the same protein signature of metabolism in skeletal muscle of PEO and MELAS patients: A role for oxidative stress.

Free Radic Biol Med 2018 Oct 20;126:235-248. Epub 2018 Aug 20.

Departamento de Biología Molecular, Centro de Biología Molecular Severo Ochoa, Consejo Superior de Investigaciones Científicas-Universidad Autónoma de Madrid (CSIC-UAM), Spain; Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER), ISCIII, Spain; Instituto de Investigación Hospital, 12 de Octubre (i+12), Madrid, Spain. Electronic address:

A major challenge in mitochondrial diseases (MDs) is the identification of biomarkers that could inform of the mechanisms involved in the phenotypic expression of genetic defects. Herein, we have investigated the protein signature of metabolism and of the antioxidant response in muscle biopsies of clinically and genetically diagnosed patients with Progressive External Ophthalmoplegia due to single large-scale (PEO-sD) or multiple (PEO-mD) deletions of mtDNA and Mitochondrial Encephalopathy Lactic Acidosis and Stroke-like episode (MELAS) syndrome, and healthy donors. A high-throughput immunoassay technique that quantitates the expression of relevant proteins of glycolysis, glycogenolysis, pentose phosphate pathway, oxidative phosphorylation, pyruvate and fatty acid oxidation, tricarboxylic acid cycle and the antioxidant response in two large independent and retrospectively collected cohorts of PEO-sD, PEO-mD and MELAS patients revealed that despite the heterogeneity of the genetic alterations, the three MDs showed the same metabolic signatures in both cohorts of patients, which were highly divergent from those of healthy individuals. Read More

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https://linkinghub.elsevier.com/retrieve/pii/S08915849183142
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http://dx.doi.org/10.1016/j.freeradbiomed.2018.08.020DOI Listing
October 2018
4 Reads

The MELAS mutation m.3243A>G promotes reactivation of fetal cardiac genes and an epithelial-mesenchymal transition-like program via dysregulation of miRNAs.

Biochim Biophys Acta Mol Basis Dis 2018 09 19;1864(9 Pt B):3022-3037. Epub 2018 Jun 19.

RNA Modification and Mitochondrial Diseases Laboratory, Centro de Investigación Príncipe Felipe (CIPF), Carrer d'Eduardo Primo Yúfera 3, Valencia 46012, Spain; Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER) node 721, Madrid 28029, Spain. Electronic address:

The pathomechanisms underlying oxidative phosphorylation (OXPHOS) diseases are not well-understood, but they involve maladaptive changes in mitochondria-nucleus communication. Many studies on the mitochondria-nucleus cross-talk triggered by mitochondrial dysfunction have focused on the role played by regulatory proteins, while the participation of miRNAs remains poorly explored. MELAS (mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes) is mostly caused by mutation m. Read More

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http://dx.doi.org/10.1016/j.bbadis.2018.06.014DOI Listing
September 2018
5 Reads

Comparison of magnetic resonance spectroscopy (MRS) with arterial spin labeling (ASL) in the differentiation between mitochondrial encephalomyopathy, lactic Acidosis, plus stroke-like episodes (MELAS) and acute ischemic stroke (AIS).

J Clin Neurosci 2018 Sep 18;55:65-70. Epub 2018 Jun 18.

Department of Neurology, Nanfang Hospital, Southern Medical University, Guangzhou, Guangdong, China.

To compare the utility and limitation of magnetic resonance spectroscopy (MRS) and arterial spin labeling (ASL) in the differentiation between mitochondrial encephalomyopathy, lactic acidosis, plus stroke-like episodes (MELAS) and acute ischemic stroke (AIS), a retrospective review of 17 MELAS and 26 AIS patients were performed. In all patients both MRS and ASL scans were performed within 1 week after admission. Demographic, clinical, laboratory and MR imaging data were reviewed and compared between the two groups. Read More

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http://dx.doi.org/10.1016/j.jocn.2018.06.015DOI Listing
September 2018
3 Reads
1.320 Impact Factor

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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http://dx.doi.org/10.1016/j.nicl.2018.01.017DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5984598PMC
January 2018
13 Reads

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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http://dx.doi.org/10.4062/biomolther.2017.251DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5933890PMC
May 2018
1 Citation
0.840 Impact Factor

Treatment of Depression With Duloxetine in Mitochondrial Encephalopathy, Lactic Acidosis, and Stroke-Like Episodes.

Clin Neuropharmacol 2018 May/Jun;41(3):103-105

University of South Florida College of Medicine and.

The mitochondrial cytopathies are a heterogeneous group of diseases characterized by heteroplasmic maternal transmission and selective dysfunction of tissues and organs highly dependent on aerobic respiration (eg, skeletal muscle, cardiac muscle, and brain). Mitochondrial encephalomyopathy with lactic acidosis and stroke-like episodes (MELAS) is a specific subtype of mitochondrial cytopathy that is commonly associated with mood disturbances in individuals who survive until adulthood. Because of the altered cellular metabolism inherent in MELAS, it is often difficult to determine drug dosing, drug choice, and treatment response in patients with this rare disease. Read More

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http://dx.doi.org/10.1097/WNF.0000000000000277DOI Listing
September 2018

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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http://dx.doi.org/10.1016/j.ebiom.2018.02.010DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5952215PMC
April 2018
7 Reads

MELAS: A Complex and Challenging Diagnosis.

J Coll Physicians Surg Pak 2018 Mar;28(3):S46-S48

Medical Student, Dow University of Health Sciences, Karachi.

Mitochondrial encephalopathy, lactic acidosis and stroke-like episodes (MELAS) is a rare multisystem disorder and is the most common maternally inherited mitochondrial disease. This condition has a special predilection for the nervous system and muscles. Typical findings on brain imaging include stroke-like areas, calcification of basal ganglia and brain atrophy. Read More

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http://dx.doi.org/10.29271/jcpsp.2018.03.S46DOI Listing
March 2018
8 Reads
0.320 Impact Factor

Mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes with severe systemic symptoms: Pathology and biochemistry.

Pediatr Int 2018 Mar 26;60(3):300-302. Epub 2018 Feb 26.

Department of Metabolism, Chiba Children's Hospital, Chiba, Japan.

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http://doi.wiley.com/10.1111/ped.13472
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http://dx.doi.org/10.1111/ped.13472DOI Listing
March 2018
7 Reads

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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http://dx.doi.org/10.1016/j.mito.2018.02.003DOI Listing
February 2018
7 Reads

8-year retrospective analysis of intravenous arginine therapy for acute metabolic strokes in pediatric mitochondrial disease.

Mol Genet Metab 2018 03 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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http://dx.doi.org/10.1016/j.ymgme.2018.01.010DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5849405PMC
March 2018
7 Reads

Conventional and Diffusional Magnetic Resonance Imaging Features of Mitochondrial Encephalomyopathy, Lactic Acidosis, and Stroke-Like Episodes in Chinese Patients: A Study of 40 Cases.

J Comput Assist Tomogr 2018 Jul/Aug;42(4):510-516

Department of Neurology, Huashan Hospital, Fudan University, Shanghai, China.

Purposes: The aims of the study were to analyze the conventional and diffusion-weighted MRI (DWI) of mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes (MELAS) and to investigate underlying mechanisms.

Methods: Features of 58 acute and 68 chronic stroke-like lesions as well as global brain abnormalities of 40 Chinese MELAS patients were analyzed.

Results: Gyriform DWI hyperintensity with decreased apparent diffusion coefficient (ADC) and patchy DWI hyperintensity with normal ADC were noted in 56 of 58 and 2 of 58 cortical regions of acute lesions, respectively. Read More

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http://dx.doi.org/10.1097/RCT.0000000000000712DOI Listing
August 2018
12 Reads

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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http://dx.doi.org/10.1007/s13238-017-0499-yDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5829275PMC
March 2018
8 Reads

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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http://dx.doi.org/10.1186/s12883-017-1001-4DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5729248PMC
December 2017
7 Reads

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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http://dx.doi.org/10.18632/oncotarget.20617DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5650287PMC
September 2017
14 Reads

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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http://dx.doi.org/10.5414/CNCS109083DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5438005PMC
March 2017
3 Reads

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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http://dx.doi.org/10.5114/pjp.2017.65021DOI Listing
December 2017
6 Reads

Defective mitochondrial rRNA methyltransferase MRM2 causes MELAS-like clinical syndrome.

Hum Mol Genet 2017 11;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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http://dx.doi.org/10.1093/hmg/ddx314DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5886288PMC
November 2017
15 Reads
2 Citations
6.390 Impact Factor

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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http://dx.doi.org/10.1136/bcr-2017-220934DOI Listing
September 2017
1 Read

Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, and Stroke-like Episodes (MELAS) due to a m.10158T>C ND3 Mutation with a Normal Muscle Biopsy.

Intern Med 2017 10 6;56(19):2693. Epub 2017 Sep 6.

University of Tunis El Manar and Genomics Platform, Pasteur Institute of Tunis, Tunisia.

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http://dx.doi.org/10.2169/internalmedicine.8820-17DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5658547PMC
October 2017
4 Reads

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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http://dx.doi.org/10.1016/j.pediatrneurol.2017.06.017DOI Listing
October 2017
4 Reads

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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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5519148PMC
http://dx.doi.org/10.1177/2326409817697399DOI Listing
January 2017
24 Reads

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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http://dx.doi.org/10.1111/cns.12714DOI Listing
August 2017
12 Reads

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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http://dx.doi.org/10.1007/s00234-017-1866-3DOI Listing
August 2017
3 Reads

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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http://dx.doi.org/10.1007/s11427-017-9080-yDOI Listing
July 2017
9 Reads

A case of rhabdomyolysis after status epilepticus without stroke-like episodes in mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes.

Rinsho Shinkeigaku 2017 07 22;57(7):400-401. Epub 2017 Jul 22.

Department of Neurology, Neurological Institute, Graduate School of Medical Sciences, Kyushu University.

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http://dx.doi.org/10.5692/clinicalneurol.cn-001044DOI Listing
July 2017
5 Reads

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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http://dx.doi.org/10.1212/NXG.0000000000000160DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5444911PMC
June 2017
27 Reads

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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http://dx.doi.org/10.3945/jn.117.248435DOI Listing
July 2017
13 Reads

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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http://dx.doi.org/10.1016/j.mito.2017.05.005DOI Listing
July 2017
29 Reads

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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http://dx.doi.org/10.2169/internalmedicine.56.7753DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5478573PMC
October 2017
14 Reads

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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http://dx.doi.org/10.1056/NEJMcpc1616022DOI Listing
April 2017
24 Reads

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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http://dx.doi.org/10.1213/XAA.0000000000000520DOI Listing
July 2017
12 Reads

NDUFS4-related Leigh syndrome in Hutterites.

Am J Med Genet A 2017 May 28;173(5):1450-1451. Epub 2017 Mar 28.

Genomics Platform Pasteur Institute of Tunis, University of Tunis El Manar, Tunis, Tunisia.

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http://dx.doi.org/10.1002/ajmg.a.38225DOI Listing

Late onset MELAS with m.3243A > G mutation and its association with aneurysm formation.

Metab Brain Dis 2017 08 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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http://dx.doi.org/10.1007/s11011-017-9989-0DOI Listing
August 2017
8 Reads

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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https://linkinghub.elsevier.com/retrieve/pii/S00257753173011
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http://dx.doi.org/10.1016/j.medcli.2017.01.029DOI Listing
April 2017
4 Reads

Increased cerebral blood flow as a predictor of episodes in MELAS using multimodal MRI.

J Magn Reson Imaging 2017 09 2;46(3):915-918. Epub 2017 Mar 2.

Department of Radiology, Huashan Hospital, Fudan University, Shanghai, China.

Level Of Evidence: 5 Technical Efficacy: Stage 2 J. MAGN. RESON. Read More

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http://dx.doi.org/10.1002/jmri.25592DOI Listing
September 2017
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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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http://dx.doi.org/10.1136/bcr-2016-218133DOI Listing
February 2017
9 Reads

[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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http://dx.doi.org/10.11477/mf.1416200650DOI Listing
February 2017
8 Reads

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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http://dx.doi.org/10.1016/j.biocel.2017.02.003DOI Listing
April 2017
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Identification of miRNA, lncRNA and mRNA-associated ceRNA networks and potential biomarker for MELAS with mitochondrial DNA A3243G mutation.

Sci Rep 2017 01 31;7:41639. Epub 2017 Jan 31.

Laboratory of Neuromuscular Disorders and Department of Neurology, Qilu Hospital, Shandong University, Jinan, China.

Researchers in the field of mitochondrial biology are increasingly unveiling of the complex mechanisms between mitochondrial dysfunction and noncoding RNAs (ncRNAs). However, roles of ncRNAs underlying mitochondrial myopathy remain unexplored. The aim of this study was to elucidate the regulating networks of dysregulated ncRNAs in Mitochondrial myopathy, Encephalopathy, Lactic Acidosis, and Stroke-like episodes (MELAS) with mitochondrial DNA (mtDNA) A3243G mutation, which might make contributions to the unveiling of the complex mechanisms underlying mitochondrial myopathy and, possibly, new tools applicable to clinical practice. Read More

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http://www.nature.com/articles/srep41639
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http://dx.doi.org/10.1038/srep41639DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5282567PMC
January 2017
5 Reads

MELAS (Mitochondrial Encephalomyopathy, Lactic Acidosis, Stroke) - a Diagnosis Not to be Missed.

Ir Med J 2016 Sep 9;109(8):455. Epub 2016 Sep 9.

Departments of Paediatrics, Neurology and Radiology, Childrens University Hospital, Temple St, Dublin 1.

MELAS is a rare mitochondrial disorder. We report two cases in Irish males where the characteristics were evident, but the diagnosis not made for a considerable period of time. In one of the cases the symptoms were presumed secondary to prematurity. Read More

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September 2016

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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http://dx.doi.org/10.2169/internalmedicine.56.7301DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5313432PMC
February 2017
5 Reads

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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December 2016
15 Reads

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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http://dx.doi.org/10.1111/ene.13176DOI Listing
February 2017
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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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http://dx.doi.org/10.3233/JND-160178DOI Listing
August 2016
12 Reads