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

J Nutr 2017 May 17. 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

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.

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

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

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

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

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

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(Leu(UUR)). Read More

J Orthop Surg (Hong Kong) 2016 Aug;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

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

Mitochondrion 2016 Sep 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

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

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

Mitochondrion 2016 Sep 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

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

Clin Neurol Neurosurg 2016 Sep 14;148:17-21. Epub 2016 Jun 14.

CSIR-Centre for Cellular and Molecular Biology (CCMB), Hyderabad, India. Electronic address:

Objectives: Reports of audiological manifestations in specific subgroups of mitochondrial disorders are limited. This study aims to describe the audiological findings in patients with MELAS syndrome and m.3243A>G mutation. Read More

Neurologist 2016 Jul;21(4):61-5

*Harvard Medical School †Department of Neurology, Massachusetts General Hospital ‡Massachusetts Eye and Ear Infirmary, Neuro-Ophthalmology Service §Massachusetts General Hospital, Neuropathology Service, Boston, MA.

Introduction: Establishing a diagnosis of mitochondrial disease in adults remains a clinician's challenge. We report a case of syndrome reminiscent of mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes (MELAS) in an adult patient who carries m.10158T>C mutation in complex I respiratory chain gene MT-ND3 (mitochondrially encoded NADH dehydrogenase 3). Read More

J Neurol 2016 Aug 22;263(8):1666-8. Epub 2016 Jun 22.

Department of Pediatrics and Child Health, Kurume University School of Medicine, 67 Asahi-Machi, Kurume, Fukuoka, 830-0011, Japan.

JAMA Neurol 2016 Aug;73(8):990-3

Departments of Oncology and Space Environmental Medicine, Kagoshima University Graduate School of Medical and Dental Science, Kagoshima, Kagoshima, Japan.

Importance: The regulatory factors explaining the wide spectrum of clinical phenotypes for mitochondrial 3243A>G mutation are not known. Crosstalk between nuclear genes and mitochondrial DNA might be one factor.

Observations: In this case series, we compared 2 pairs of male twins with the mitochondrial 3243 A>G mutation and mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes syndrome with a female control patient. Read More

Stroke 2016 Jul 31;47(7):1702-9. Epub 2016 May 31.

From the Department of Cerebrovascular Disease, IRCCS Foundation Carlo Besta Neurological Institute, Milan, Italy (A.B., G.B.B., E.A.P., N.T.); Stroke Research Group, Department of Clinical Neurosciences, University of Cambridge, Cambridge, United Kingdom (H.S.M.); Department of Bio-Medical Informatics, University of Pavia, Pavia, Italy (S.Q.); Department of Inherited Cardiovascular Disease, Foundation IRCCS Policlinico San Matteo, Pavia, Italy (E.A., M.G.); Neurology Unit, Department of Neuroscience and Sensory Organs, Maggiore Policlinico Hospital Foundation IRCCS Ca' Granda, Milan, Italy (S.L., L.C.); Neurology and Stroke Unit, Department of Urgency (G.M., A.C.), Department of Genetics (C.C., G.G.), and Brain MRI 3T Research Center (P.V.), IRCCS Foundation Casimiro Mondino Neurological Institute, Pavia, Italy; Department of Genetics of Neurodegenerative and Metabolic Diseases, IRCCS Foundation C, Besta Neurological Institute, Milan, Italy (F.T., C.G., S.B.); Department of Medical Genetics, Niguarda Ca' Granda Hospital, Milan, Italy (S.P., L.M.); Department of Genomics for Human Disease Diagnosis and Laboratory of Clinical Molecular Biology, IRCCS San Raffaele hospital, Milan, Italy (P.C., M.F.); University Vita-Salute, Milano, Italy (M.F.); Dino Ferrari Centre, Neuroscience Section, Department of Pathophysiology and Transplantation (DEPT), University of Milan, Milan, Italy (S.C., D.R., G.P.C.); Neurology Unit, Department of Neuroscience and Sensory Organs, IRCCS Foundation Ca' Granda Ospedale Maggiore Policlinico Milan, Milan, Italy (S.C., D.R., G.P.C.); Department of Molecular Biology, Scientific Institute IRCCS Eugenio Medea, Bosisio Parini, Lecco, Italy (M.T.B.); Center for amyloidosis, Department of medical Thecnologies, IRCCS Foundation San Matteo Policlinico, Pavia, Italy (L.O., G.M.); Vascular Neurology - Spedali Civili, Department of Clinical and Experimental Sciences, University of Brescia, Brescia, Italy (A. Pezzini, A. Padovani); Stroke Unit, Departmen

Background And Purpose: Lombardia GENS is a multicentre prospective study aimed at diagnosing 5 single-gene disorders associated with stroke (cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy, Fabry disease, MELAS [mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes], hereditary cerebral amyloid angiopathy, and Marfan syndrome) by applying diagnostic algorithms specific for each clinically suspected disease

Methods: We enrolled a consecutive series of patients with ischemic or hemorrhagic stroke or transient ischemic attack admitted in stroke units in the Lombardia region participating in the project. Patients were defined as probable when presenting with stroke or transient ischemic attack of unknown etiopathogenic causes, or in the presence of <3 conventional vascular risk factors or young age at onset, or positive familial history or of specific clinical features. Patients fulfilling diagnostic algorithms specific for each monogenic disease (suspected) were referred for genetic analysis. Read More

Tohoku J Exp Med 2016 ;239(2):89-94

Department of Diabetes and Endocrinology, Osaka Red Cross Hospital.

Mitochondrial diabetes mellitus is a subtype of diabetes linked to mutations in mitochondrial DNA. In patients with mitochondrial diabetes mellitus, the effect of glycemic control on the serum concentrations of fibroblast growth factor 21 (FGF21) and growth differentiation factor 15 (GDF15) has not been evaluated. FGF21 and GDF15 have been reported to be useful biomarkers for the diagnosis and severity assessment of mitochondrial diseases like mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes (MELAS). Read More

Folia Neuropathol 2016 ;54(1):66-71

Dr. Wang ZP, Department of Radiology, Beijing Tian Tan Hospital, Capital Medical University, Beijing 100050, China, e-mail:

Aim: We report molecular imaging combined with gene diagnosis in a family with 7 members who carried an A3243G mutation in mitochondrial tRNA and p.Thr 137 Met in cationic trypsinogen (PRSS1) gene presented with mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes (MELAS), diabetes, and recurrent pancreatitis.

Material And Methods: DNA sequencing was used to detect and validate mitochondrial DNA and PRSS1. Read More

J Clin Neurosci 2016 Feb;24:123, 170

Tohoku J Exp Med 2016 ;238(4):311-6

Department of Diabetes and Endocrinology, Osaka Red Cross Hospital.

Approximately 80% of patients with mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes (MELAS) carry the A3243G mutation in the mitochondrial tRNALeu (UUR) gene. Conversely, this mutation has also been identified as one of the most prevalent genetic abnormalities in patients with diabetes mellitus. Mitochondrial diabetes mellitus complicated with MELAS is relatively common, and 12. Read More

JAMA Neurol 2016 May;73(5):591-4

Department of Pediatrics, Children's Hospital of Pittsburgh of University of Pittsburgh Medical Center, Pittsburgh, Pennsylvania.

Importance: Strokelike episodes are a cardinal feature of several mitochondrial syndromes, including mitochondrial encephalomyopathy, lactic acidosis, and strokelike episodes (MELAS). Recent advances in the understanding of the pathophysiologic mechanisms of strokelike episodes in MELAS have led to improved treatment options.

Observations: Current understanding of the cause of strokelike episodes in MELAS and present recommendations to assist in the identification and treatment of patients with MELAS who present with stroke are presented. Read More

BMJ Case Rep 2016 Mar 2;2016. Epub 2016 Mar 2.

Digestive Disease Institute, Cleveland Clinic Foundation, Cleveland, Ohio, USA.

Mitochondrial diseases are rare and devastating, with a wide spectrum of clinical presentations and systemic symptoms. The majority of the published literature focuses on the neuromuscular manifestations and genetic components of this mitochondrial cytopathy, however, cardiac, renal, endocrine and gastrointestinal manifestations may also be present. The authors report a case detailing a 56-year-old woman's final hospitalisation from the gastrointestinal sequelae of mitochondrial encephalomyopathy, lactic acidosis and stroke-like episodes (MELAS) (Co Q10 deficiency variant). Read More

Chin Med J (Engl) 2016 Mar;129(5):620-1

Department of Neurology, Lishui People's Hospital, Lishui, Zhejiang 323000, China.

Brain Nerve 2016 Feb;68(2):151-7

Department of Neurology, Showa University Fujigaoka Hospital.

Stroke-like episodes are one of the cardinal features of mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episodes (MELAS), and occur in 84-99% of the patients. The affected areas detected on neuroimaging do not have classical vascular distribution, and involve predominantly the temporal, parietal and occipital lobes. Thus, the neurological symptoms including higher brain dysfunction correlate with this topographical distribution. Read More

Mol Genet Metab 2016 Apr 27;117(4):407-12. Epub 2016 Jan 27.

Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA; Texas Children's Hospital, Houston, TX, USA. Electronic address:

Mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes (MELAS) syndrome is one of the most frequent maternally inherited mitochondrial disorders. The pathogenesis of this syndrome is not fully understood and believed to result from several interacting mechanisms including impaired mitochondrial energy production, microvasculature angiopathy, and nitric oxide (NO) deficiency. NO deficiency in MELAS syndrome is likely to be multifactorial in origin with the decreased availability of the NO precursors, arginine and citrulline, playing a major role. Read More

Pediatr Neurol 2016 Mar 19;56:59-61. Epub 2015 Dec 19.

Department of Neurology, Columbia University Medical Center, New York, New York.

Importance: Stroke-like episodes signal progression and significant disability in the mitochondrial encephalomyopathy lactic acidosis and stroke-like episodes syndrome. Arginine is widely used as a treatment for stroke-like episode, although there is little evidence for this intervention. We discuss the management of a patient with mitochondrial encephalomyopathy lactic acidosis and stroke-like episodes who presented with a stroke-like episode. Read More

PLoS One 2016 6;11(1):e0145500. Epub 2016 Jan 6.

Mitochondrial Research Group, Genetics and Genomic Medicine, UCL Institute of Child Health, London WC1N 1EH, United Kingdom.

Mutations in the nuclear gene POLG (encoding the catalytic subunit of DNA polymerase gamma) are an important cause of mitochondrial disease. The most common POLG mutation, A467T, appears to exhibit considerable phenotypic heterogeneity. The mechanism by which this single genetic defect results in such clinical diversity remains unclear. Read More

Int J Clin Exp Pathol 2015 1;8(10):13411-5. Epub 2015 Oct 1.

Department of Neurology, Shanxi Province Children's Hospital Taiyuan 030001, Shanxi, China.

Mitochondrial encephalopathy with lactic acidosis and stroke-like episodes (MELAS) mostly occur in children. The point mutation A3243G of mitochondrial DNA (mtDNA) may work as a specific bio-marker for mitochondrial disorders. The related clinical features, however, may vary among individuals. Read More

Heart Fail Rev 2016 Jan;21(1):103-16

Division of Cardiology, Department of Medicine, Mazankowski Alberta Heart Institute, University of Alberta, 8440 112 Street NW, Edmonton, AB, T6G 2B7, Canada.

Heart failure remains an important clinical burden, and mitochondrial dysfunction plays a key role in its pathogenesis. The heart has a high metabolic demand, and mitochondrial function is a key determinant of myocardial performance. In mitochondrial disorders, hypertrophic remodeling is the early pattern of cardiomyopathy with progression to dilated cardiomyopathy, conduction defects and ventricular pre-excitation occurring in a significant proportion of patients. Read More

Zhonghua Yi Xue Za Zhi 2015 Aug;95(32):2623-5

Department of Central Laboratory, Peking University First Hospital, Beijing 100034, China; Email:

Objective: To analyz mitochondrial DNA mutation in one case of mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episodes (MELAS).

Methods: The patient, a 10-years-old boy,clinically diagnosed as MELAS. The clinical information was collected, and the normal mitochondrial mutations (such as A3243G, A8344G, T8993G/C, G13513A etc) were excluded. Read More

Eur J Pediatr 2016 May 15;175(5):613-22. Epub 2015 Dec 15.

Institute of Epidemiology and Medical Biometry, ZIBMT, University of Ulm, German Center for Diabetes Research (DZD), 89081, Ulm, Germany.

Unlabelled: The aim of this study was to characterize the phenotype and treatment of young patients (manifestation <30 years) with diabetes of mitochondrial origin (DMO), based on the German/Austrian DPV (Diabetes Patienten Verlaufsdokumentation) registry. Only 13 (0.02 %) of all patients with diabetes in this cohort were identified with DMO, mainly due to the Kearns-Sayre (n = 5), Pearson (n = 3), or mitochondrial myopathy, encephalomyopathy, lactic acidosis, and stroke-like episodes (MELAS) syndrome (n = 2). Read More

Acta Clin Croat 2015 Sep;54(3):371-7

Acute disseminated encephalomyelitis (ADEM) is an immune-mediated monophasic inflammatory demyelinating disorder of the central nervous system which poses a diagnostic challenge. We report on six cases of different etiologies that mimicked the clinical and radiologic findings of ADEM. The cases were collected from four different reference hospitals in Turkey. Read More

J Neurol 2016 Feb 14;263(2):257-62. Epub 2015 Nov 14.

Department of Neurology, New York University School of Medicine, New York, NY, USA.

Mitochondrial diseases, predominantly mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes (MELAS), may occasionally underlie or coincide with ischemic stroke (IS) in young and middle-aged individuals. We searched for undiagnosed patients with MELAS in a target subpopulation of unselected young IS patients enrolled in the Stroke in Young Fabry Patients study (sifap1). Among the 3291 IS patients aged 18-55 years recruited to the sifap1 study at 47 centers across 14 European countries, we identified potential MELAS patients with the following phenotypic features: (a) diagnosed cardiomyopathy or (b) presence of two of the three following findings: migraine, short stature (≤165 cm for males; ≤155 cm for females), and diabetes. Read More

Arq Neuropsiquiatr 2015 Nov;73(11):959-67

Departamento de Clínica Médica, Hospital de Clínicas, Universidade Federal do Paraná, Curitiba, PR, Brazil.

Mitochondrial myopathy, Encephalopathy, Lactic Acidosis, and Stroke-like episodes (MELAS) is a rare mitochondrial disorder. Diagnostic criteria for MELAS include typical manifestations of the disease: stroke-like episodes, encephalopathy, evidence of mitochondrial dysfunction (laboratorial or histological) and known mitochondrial DNA gene mutations. Clinical features of MELAS are not necessarily uniform in the early stages of the disease, and correlations between clinical manifestations and physiopathology have not been fully elucidated. Read More

Mitochondrion 2015 Nov 9;25:98-103. Epub 2015 Oct 9.

Radboudumc Amalia Children's Hospital, Department of Pediatrics, Nijmegen Center for Mitochondrial Disorders, Nijmegen, The Netherlands; Radboudumc, Department of Internal Medicine, Nijmegen, The Netherlands.

Introduction: The mitochondrial DNA m.3243A>G mutation is the most prevalent mutation causing mitochondrial disease in adult patients. Aside from some case reports, there are no studies on obstetric complications in a cohort of m. Read More

Biochim Biophys Acta 2016 Jan 26;1863(1):56-63. Epub 2015 Oct 26.

ARC Centre of Excellence for Nanoscale BioPhotonics, Macquarie University, Sydney 2109, New South Wales, Australia. Electronic address:

Hyperspectral imaging uses spectral and spatial image information for target detection and classification. In this work hyperspectral autofluorescence imaging was applied to patient olfactory neurosphere-derived cells, a cell model of a human metabolic disease MELAS (mitochondrial myopathy, encephalomyopathy, lactic acidosis, stroke-like syndrome). By using an endogenous source of contrast subtle metabolic variations have been detected between living cells in their full morphological context which made it possible to distinguish healthy from diseased cells before and after therapy. Read More

Appl Neuropsychol Adult 2016 21;23(1):61-4. Epub 2015 Sep 21.

b Robotic and Behavioral Neurorehabilitation Laboratory , IRCCS Centro Neurolesi "Bonino-Pulejo" , Messina , Italy.

Mitochondrial encephalomyopathy, lactic acidosis, and strokelike episodes syndrome (MELAS) is a rare inherited mitochondrial disorder, commonly due to the m.3243A>G mutation, which typically presents with seizures, headaches, and acute neurological stroke-mimicking deficits. At onset, there is often no general intellectual deterioration in these patients, although specific cognitive deficits in peculiar language domains, visual construction, attention, abstraction, or flexibility may be present. Read More

Zh Nevrol Psikhiatr Im S S Korsakova 2015 ;115(7):124-129

Nizhny Novgorod State Medical Academy, Nizhny Novgorod.

Migraine is a common disease characterized by severe headache with nausea, vomiting and hypersensitivity to sounds, light, smell. Neurological symptoms during aura period develop in 25% of patients. Genes responsible for migraine development have been identified. Read More

Mitochondrion 2015 Nov 1;25:6-16. Epub 2015 Sep 1.

Centre for Scientific and Industrial Research-Centre for Cellular and Molecular Biology (CSIR-CCMB), Hyderabad, India.

Background: Large studies analyzing magnetic resonance imaging correlates in different genotypes of mitochondrial disorders are far and few. This study sought to analyze the pattern of magnetic resonance imaging findings in a cohort of genetically characterized patients with mitochondrial disorders.

Methods: The study cohort included 33 patients (age range 18 months-50 years, M:F - 0. Read More

Brain Dev 2016 Feb 2;38(2):204-8. Epub 2015 Sep 2.

Department of Pediatrics, Division of Pediatric Cardiology, Faculty of Medicine, The University of Jordan, Jordan.

Aim: To describe clinical presentations, etiologies, and outcomes of stroke in Jordanian children.

Patients And Methods: We retrospectively reviewed the medical records of children diagnosed with ischemic stroke who presented to our clinic from January 2001 to June 2014. Patients with onset of stroke in the neonatal period were excluded. Read More

Anaesthesist 2015 Oct 28;64(10):747-53. Epub 2015 Aug 28.

Kliniken der Stadt Köln, Krankenhaus Merheim, Klinikum der Universität Witten/Herdecke, Ostmerheimer Str. 200, 51109, Köln, Deutschland.

The mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episodes (MELAS) syndrome is a disease triggered by a disorder in energy production within mitochondria. The cause of this syndrome is a mutation in the mitochondrial DNA where in 80% of cases an A-to-G mutation is present at nucleotide 3243 and with a prevalence of 18.4/100,000 in the population. Read More

Acta Neuropathol Commun 2015 Aug 22;3:52. Epub 2015 Aug 22.

Department of Mental Retardation and Birth Defect Research, National Institute of Neuroscience, National Center of Neurology and Psychiatry, Kodaira, Tokyo, 187-8502, Japan.

Introduction: Numerous pathogenic mutations responsible for mitochondrial diseases have been identified in mitochondrial DNA (mtDNA)-encoded tRNA genes. In most cases, however, the detailed molecular pathomechanisms and cellular pathophysiology of these mtDNA mutations -how such genetic defects determine the variation and the severity of clinical symptoms in affected individuals- remain unclear. To investigate the molecular pathomechanisms and to realize in vitro recapitulation of mitochondrial diseases, intracellular mutant mtDNA proportions must always be considered. Read More

Int J Clin Exp Pathol 2015 1;8(6):7022-7. Epub 2015 Jun 1.

Department of Endocrinology, Qianfoshan Hospital, Shandong University 66 Jingshi Road, Jinan 250014, China.

To investigate the mitochondrial mutations in patients suffering from both mitochondrial encephalomyopathy with lactic acidosis and stroke-like episodes (MELAS) and maternally inherited diabetes. MELAS was confirmed by muscle biopsy performed from the biceps muscle of the proband. Mitochondrial DNA (mtDNA) was isolated from peripheral blood mononuclear cells. Read More

Nature 2015 Aug 15;524(7564):234-8. Epub 2015 Jul 15.

1] Center for Embryonic Cell and Gene Therapy, Oregon Health &Science University, 3303 S.W. Bond Avenue, Portland, Oregon 97239, USA [2] Division of Reproductive &Developmental Sciences, Oregon National Primate Research Center, Oregon Health &Science University, 505 N.W. 185th Avenue, Beaverton, Oregon 97006, USA.

Mitochondria have a major role in energy production via oxidative phosphorylation, which is dependent on the expression of critical genes encoded by mitochondrial (mt)DNA. Mutations in mtDNA can cause fatal or severely debilitating disorders with limited treatment options. Clinical manifestations vary based on mutation type and heteroplasmy (that is, the relative levels of mutant and wild-type mtDNA within each cell). Read More

Tohoku J Exp Med 2015 ;236(3):225-32

Division of Nephrology, Endocrinology, and Vascular Medicine, Tohoku University Graduate School of Medicine.

Mitochondria are key organelles implicated in a variety of processes related to energy and free radical generation, the regulation of apoptosis, and various signaling pathways. Mitochondrial dysfunction increases cellular oxidative stress and depletes ATP in a variety of inherited mitochondrial diseases and also in many other metabolic and neurodegenerative diseases. Mitochondrial diseases are characterized by the dysfunction of the mitochondrial respiratory chain, caused by mutations in the genes encoded by either nuclear DNA or mitochondrial DNA. Read More