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Condition: Mitochondrial Disease

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Total 851 results found since Jan 2013.

GLUTAMATE RECEPTOR ANTIBODIES IN NEUROLOGICAL DISEASES: Anti-AMPA-GluR3 antibodies, Anti-NMDA-NR1 antibodies, Anti-NMDA-NR2A/B antibodies, Anti-mGluR1 antibodies or Anti-mGluR5 antibodies are present in subpopulations of patients with either: Epilepsy, Encephalitis, Cerebellar Ataxia, Systemic Lupus Erythematosus (SLE) and Neuropsychiatric SLE, Sjogren's syndrome, Schizophrenia, Mania or Stroke. These autoimmune anti-glutamate receptor antibodies can bind neurons in few brain regions, activate glutamate receptors, decrease glutamate receptor's expression, impair glutamate-induced signaling and function, activate Blood Brain Barrier endothelial cells, kill neurons, damage the brain, induce behavioral/psychiatric/cognitive abnormalities and Ataxia in animal models, and can be removed or silenced in some patients by immunotherapy.
Abstract Glutamate is the major excitatory neurotransmitter of the Central Nervous System (CNS), and it is crucially needed for numerous key neuronal functions. Yet, excess glutamate causes massive neuronal death and brain damage by excitotoxicity-detrimental over activation of glutamate receptors. Glutamate-mediated excitotoxicity is the main pathological process taking place in many types of acute and chronic CNS diseases and injuries. In recent years, it became clear that not only excess glutamate can cause massive brain damage, but that several types of anti-glutamate receptor antibodies, that are present in ...
Source: Herpes - August 1, 2014 Category: Infectious Diseases Authors: Levite M Tags: J Neural Transm Source Type: research

Novel POLG Mutation in a Patient with Sensory Ataxia, Neuropathy, Ophthalmoparesis and Stroke.
CONCLUSIONS: The novel mutation contributes to the expanding spectrum of disease-causing mutations. A definitive diagnosis can benefit our patient and also the relatives by avoiding sodium valproate induced liver toxicity in POLG patients and also the heterozygotes. PMID: 26169155 [PubMed - as supplied by publisher]
Source: International Journal of Clinical Chemistry - July 10, 2015 Category: Chemistry Authors: Ching-Wan L, Chun-Yiu L, Wai-Kwan S, Cheuk-Wing F, Man-Mut Y, Kwai-Fun H, Hencher LH, Chloe MM Tags: Clin Chim Acta Source Type: research

A clinical audit of acute management of stroke-like episodes from a national mitochondrial disease centre
Conclusion This audit is the first to highlight the need for early recognition and prompt management of SLE in MELAS and the role of seizure control to improve clinical outcome.
Source: Journal of Neurology, Neurosurgery and Psychiatry - October 14, 2015 Category: Neurosurgery Authors: Shaw, S., Ng, Y. S., Whittaker, R., McFarland, R., Turnbull, D., Gorman, G., Schaefer, A. Tags: Genetics, Epilepsy and seizures, Muscle disease, Neuroimaging, Neuromuscular disease, Musculoskeletal syndromes Thur 21, Parallel session 5: Therapeutics Source Type: research

When should MELAS (Mitochondrial myopathy, Encephalopathy, Lactic Acidosis, and Stroke-like episodes) be the diagnosis?
ABSTRACTMitochondrial 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. It is estimated that point mutations in the tRNALeu(UUR) gene of the DNAmt, ma...
Source: Arquivos de Neuro-Psiquiatria - November 18, 2015 Category: Neurology Source Type: research

Early Onset of Diabetes Mellitus Accelerates Cognitive Decline in Japanese Patients with Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, and Stroke-Like Episodes.
Abstract 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 12.5% of patients with the A3243G mutation develop MELAS after being diagnosed with diabetes mellitus. However, the clinical impact of diabetes mellitus in MELAS patients remains unclear. Therefore, we...
Source: The Tohoku Journal of Experimental Medicine - April 13, 2016 Category: Research Authors: Murakami T, Shinoto Y, Yonemitsu S, Muro S, Oki S, Koga Y, Goto Y, Kaneda D Tags: Tohoku J Exp Med Source Type: research

Anesthetic considerations for renal transplant surgery in patients with mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes syndrome: a case report
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. Here we present a novel experience providing care for a patient with mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes syndrome who underwent renal transplantation for focal segmental glomerulo...
Source: Journal of Clinical Anesthesia - June 2, 2016 Category: Anesthesiology Authors: Michelle L. Humeidan, Julia Dalia, Wanye D. Traetow Tags: Case report Source Type: research

Pseudo ‐obstruction, stroke and mitochondrial dysfunction: A lethal combination
This article is protected by copyright. All rights reserved.
Source: Annals of Neurology - June 30, 2016 Category: Neurology Authors: Yi Shiau Ng, Catherine Feeney, Andrew M. Schaefer, Carol Ellen Holmes, Paula Hynd, Charlotte L. Alston, John P. Grady, Mark Roberts, Mellisa Maguire, Alexandra Bright, Robert W. Taylor, Yan Yiannakou, Robert McFarland, Doug M. Turnbull, Gr áinne S. Gorma Tags: Research Article Source Type: research

Pseudo ‐obstruction, stroke, and mitochondrial dysfunction: A lethal combination
ObjectivesThe m.3243A>G MTTL1 mutation is the most common cause of mitochondrial disease; yet there is limited awareness of intestinal pseudo‐obstruction (IPO) in this disorder. We aimed to determine the prevalence, severity, and clinical outcome of patients with m.3243A>G‐related mitochondrial disease manifesting with IPO. MethodsIn this large, observational cohort study, we assessed the clinical, molecular, and radiological characteristics of patients with genetically determined m.3243A>G‐related mitochondrial disease, who presented with severe symptoms suggestive of bowel obstruction in the absence of an ...
Source: Annals of Neurology - September 18, 2016 Category: Neurology Authors: Yi Shiau Ng, Catherine Feeney, Andrew M. Schaefer, Carol Ellen Holmes, Paula Hynd, Charlotte L. Alston, John P. Grady, Mark Roberts, Mellisa Maguire, Alexandra Bright, Robert W. Taylor, Yan Yiannakou, Robert McFarland, Doug M. Turnbull, Gr áinne S Gorman Tags: Research Article Source Type: research

Prioritizing Functional Capacity as a Principal End Point for Therapies Oriented to Older Adults With Cardiovascular Disease: A Scientific Statement for Healthcare Professionals From the American Heart Association.
ncil on Quality of Care and Outcomes Research; and Stroke Council Abstract Adults are living longer, and cardiovascular disease is endemic in the growing population of older adults who are surviving into old age. Functional capacity is a key metric in this population, both for the perspective it provides on aggregate health and as a vital goal of care. Whereas cardiorespiratory function has long been applied by cardiologists as a measure of function that depended primarily on cardiac physiology, multiple other factors also contribute, usually with increasing bearing as age advances. Comorbidity, inflammation, mito...
Source: Circulation - March 23, 2017 Category: Cardiology Authors: Forman DE, Arena R, Boxer R, Dolansky MA, Eng JJ, Fleg JL, Haykowsky M, Jahangir A, Kaminsky LA, Kitzman DW, Lewis EF, Myers J, Reeves GR, Shen WK, American Heart Association Council on Clinical Cardiology; Council on Cardiovascular and Stroke Nursing; Co Tags: Circulation Source Type: research

Interplay between mitochondrial metabolism and oxidative stress in ischemic stroke: An epigenetic connection
Publication date: Available online 24 May 2017 Source:Molecular and Cellular Neuroscience Author(s): Parimala Narne, Vimal Pandey, Prakash Babu Phanithi The advent of epigenetics brought in a tectonic shift in the understanding of molecular basis of complex diseases like ischemic stroke (IS). Substantial scientific inquiry into the epigenetic basis of neurodegenerative diseases has bolstered the idea that altered carbon flux into central carbon metabolism and disturbed redox states govern the attendant transcriptional profiles through stochastic epigenetic changes. In view of an increasing understanding of the link betwee...
Source: Molecular and Cellular Neuroscience - May 25, 2017 Category: Neuroscience Source Type: research

Succinate-induced neuronal mitochondrial fission and hexokinase II malfunction in ischemic stroke: Therapeutical effects of kaempferol
This study indicates that succinate accumulation plays a pivotal role in I/R injury-induced neuronal mitochondrial dysfunction, and suggests that modulation of Drp1 phosphorylation might be potential therapeutic strategy to protect neuron mitochondrial integrity and treat ischemic stroke.
Source: Biochimica et Biophysica Acta (BBA) Molecular Basis of Disease - June 19, 2017 Category: Molecular Biology Source Type: research

Levetiracetam administration is correlated with lower mortality in patients with mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes: a retrospective study.
CONCLUSIONS: The LEV administration is associated with lower mortality in patients with MELAS in this retrospective study. Further laboratory research and prospective cohort studies are needed to confirm whether LEV has neuroprotective effects on patients with mitochondrial diseases. PMID: 30681492 [PubMed - in process]
Source: Chinese Medical Journal - January 27, 2019 Category: General Medicine Authors: Zhang Z, Zhao DH, Zhao XT, Zhang X, Xiong H, Bao XH, Yuan Y, Wang ZX Tags: Chin Med J (Engl) Source Type: research

Homozygous R627W mutations in POLG cause mitochondrial DNA depletion leading to encephalopathy, seizures and stroke-like episodes
Publication date: Available online 16 August 2019Source: MitochondrionAuthor(s): Arumugam Paramasivam, Challa Venkatapathi, Gampa Sandeep, Angamuthu K. Meena, Megha S. Uppin, Swati Mohapatra, Robert D.S. Pitceathly, Kumarasamy ThangarajAbstractMutations in the mitochondrial DNA maintenance gene POLG (DNA Polymerase Gamma, Catalytic Subunit), encoding mitochondrial DNA polymerase gamma (pol γ), are associated with an extremely broad phenotypic spectrum. We identified homozygous POLG c.1879C>T; p.R627W mutations in two siblings from a consanguineous South Asian family following targeted resequencing of 75 nuclear-encoded mi...
Source: Mitochondrion - August 17, 2019 Category: Biochemistry Source Type: research

Stroke-like episodes in OPA1 carriers require comprehensive work-up and therapeutic considerations
AbstractThis is a letter to the Editor concerning the recently published article by Zerem et al. The paper described a 12yo female with multisystem mitochondrial disorder (MID) due to the compound heterozygous variants c.1963_1964dupAT and p.Ile382Met inOPA1 manifesting phenotypically with congenital nystagmus, developmental delay, visual impairment, gait ataxia, epilepsy, a stroke-like episode (SLE) with encephalopathy and vomiting, and hearing impairment. This interesting case could be more meaningful by providing more information about the treatment of the SLE/stroke-like lesion (SLL), about the morphological characteri...
Source: Metabolic Brain Disease - January 23, 2020 Category: Neurology Source Type: research

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