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Condition: Mitochondrial Disease

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Total 851 results found since Jan 2013.

Sex differences in brain mitochondrial metabolism: influence of endogenous steroids and stroke
This article is protected by copyright. All rights reserved.
Source: Journal of Neuroendocrinology - June 1, 2017 Category: Endocrinology Authors: P. Gaignard, M. Fr échou, P. Liere, P. Thérond, M. Schumacher, A. Slama, R. Guennoun Tags: Review Article Source Type: research

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 Critical Reviews
The objective of this review is to highlight the utility of this method in providing additional evidence for NO deficiency in MELAS syndrome, adding more insight into the potential mechanisms of NO deficiency in this syndrome, and allowing for the assessment of the effects of supplementation with the NO donors, arginine and citrulline, on improving NO production in MELAS syndrome.
Source: Journal of Nutrition - July 3, 2017 Category: Nutrition Authors: El-Hattab, A. W., Jahoor, F. Tags: Critical Reviews Source Type: research

Isolated and repeated stroke-like episodes in a middle-aged man with a mitochondrial ND3 T10158C mutation: a case report
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 ...
Source: BMC Neurology - December 13, 2017 Category: Neurology Authors: Satomi Mezuki, Kenji Fukuda, Tomonaga Matsushita, Yoshihisa Fukushima, Ryu Matsuo, Yu-ichi Goto, Takehiro Yasukawa, Takeshi Uchiumi, Dongchon Kang, Takanari Kitazono and Tetsuro Ago Tags: Case report Source Type: research

Involvement of mitochondrial haplogroups in myocardial infarction and stroke: A case-control study in Castile and Leon (Spain) population
Publication date: Available online 16 December 2017 Source:Mitochondrion Author(s): Miriam Umbria, Amanda Ramos, Jennifer Caner, Tomás Vega, José Eugenio Lozano, Cristina Santos, Maria Pilar Aluja There are strong evidences that common mitochondrial DNA (mtDNA) haplogroups may influence the pathogenesis of cardiovascular diseases (CVDs). In this matched case-control study, we investigate the association between mtDNA haplogroups and two CVDs, myocardial infarction (MI) and stroke, and classical cardiovascular risk factors. Data obtained show that haplogroup H constitute a susceptibility risk factor for MI (p=0.001; OR=2...
Source: Mitochondrion - December 17, 2017 Category: Biochemistry Source Type: research

A urinary biosignature for mitochondrial myopathy, encephalopathy, lactic acidosis and stroke like episodes (MELAS)
Publication date: Available online 19 February 2018 Source:Mitochondrion Author(s): Karien Esterhuizen, J. Zander Lindeque, Shayne Mason, Francois H. van der Westhuizen, Anu Suomalainen, Anna H. Hakonen, Christopher J. Carroll, Richard J. Rodenburg, Paul B. de Laat, Mirian C.H. Janssen, Jan A.M. Smeitink, Roan Louw 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...
Source: Mitochondrion - February 20, 2018 Category: Biochemistry Source Type: research

Fenofibrate attenuates cardiac and renal alterations in young salt-loaded spontaneously hypertensive stroke-prone rats through mitochondrial protection
Conclusion: The results suggest that the cardiorenal protective effects of fenofibrate in young male salt-loaded SHRSPs are explained by its capacity to preserve mitochondrial function.
Source: Journal of Hypertension - March 27, 2018 Category: Cardiology Tags: ORIGINAL PAPERS: Pathophysiological aspects Source Type: research

Treatment of Depression With Duloxetine in Mitochondrial Encephalopathy, Lactic Acidosis, and Stroke-Like Episodes
We report a case in which an adult patient with MELAS and comorbid major depressive disorder demonstrated excellent response to the selective serotonin-norepinephrine reuptake inhibitor medication duloxetine.
Source: Clinical Neuropharmacology - May 1, 2018 Category: Neurology Tags: Case Reports Source Type: research

A urinary biosignature for mitochondrial myopathy, encephalopathy, lactic acidosis and stroke like episodes (MELAS)
Publication date: Available online 19 February 2018Source: MitochondrionAuthor(s): Karien Esterhuizen, J. Zander Lindeque, Shayne Mason, Francois H. van der Westhuizen, Anu Suomalainen, Anna H. Hakonen, Christopher J. Carroll, Richard J. Rodenburg, Paul B. de Laat, Mirian C.H. Janssen, Jan A.M. Smeitink, Roan LouwAbstractWe 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 we...
Source: Mitochondrion - July 5, 2018 Category: Biochemistry Source Type: research

Involvement of mitochondrial haplogroups in myocardial infarction and stroke: A case-control study in Castile and Leon (Spain) population
Publication date: Available online 16 December 2017Source: MitochondrionAuthor(s): Miriam Umbria, Amanda Ramos, Jennifer Caner, Tomás Vega, José Eugenio Lozano, Cristina Santos, Maria Pilar AlujaAbstractThere are strong evidences that common mitochondrial DNA (mtDNA) haplogroups may influence the pathogenesis of cardiovascular diseases (CVDs). In this matched case-control study, we investigate the association between mtDNA haplogroups and two CVDs, myocardial infarction (MI) and stroke, and classical cardiovascular risk factors.Data obtained show that haplogroup H constitute a susceptibility risk factor for MI (p =&...
Source: Mitochondrion - July 5, 2018 Category: Biochemistry Source Type: research

A urinary biosignature for mitochondrial myopathy, encephalopathy, lactic acidosis and stroke like episodes (MELAS)
Publication date: Available online 19 February 2018Source: MitochondrionAuthor(s): Karien Esterhuizen, J. Zander Lindeque, Shayne Mason, Francois H. van der Westhuizen, Anu Suomalainen, Anna H. Hakonen, Christopher J. Carroll, Richard J. Rodenburg, Paul B. de Laat, Mirian C.H. Janssen, Jan A.M. Smeitink, Roan LouwAbstractWe 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 we...
Source: Mitochondrion - July 11, 2018 Category: Biochemistry Source Type: research

Involvement of mitochondrial haplogroups in myocardial infarction and stroke: A case-control study in Castile and Leon (Spain) population
Publication date: Available online 16 December 2017Source: MitochondrionAuthor(s): Miriam Umbria, Amanda Ramos, Jennifer Caner, Tomás Vega, José Eugenio Lozano, Cristina Santos, Maria Pilar AlujaAbstractThere are strong evidences that common mitochondrial DNA (mtDNA) haplogroups may influence the pathogenesis of cardiovascular diseases (CVDs). In this matched case-control study, we investigate the association between mtDNA haplogroups and two CVDs, myocardial infarction (MI) and stroke, and classical cardiovascular risk factors.Data obtained show that haplogroup H constitute a susceptibility risk factor for MI (p =&...
Source: Mitochondrion - July 11, 2018 Category: Biochemistry Source Type: research

Dexmedetomidine Protects Against Neurological Dysfunction in a Mouse Intracerebral Hemorrhage Model by Inhibiting Mitochondrial Dysfunction-Derived Oxidative Stress
Intracerebral hemorrhage (ICH) is a subtype of stroke with high disability and mortality. Dexmedetomidine (Dex) has been shown to provide neuroprotection in several neurological diseases. The aim of present study was to investigate the effects of Dex on ICH-induced neurological deficits and brain injury and the underlying mechanisms.
Source: Journal of Stroke and Cerebrovascular Diseases - February 20, 2019 Category: Neurology Authors: Jing Huang, Qiang Jiang Source Type: research

Cerebrospinal fluid ATP as a potential biomarker in patients with mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke like episodes (MELAS)
Publication date: Available online 19 November 2019Source: MitochondrionAuthor(s): Takamasa Nukui, Atsushi Matsui, Hideki Niimi, Mamoru Yamamoto, Noriyuki Mastuda, Jin-Lan Piao, Kyo Noguchi, Isao Kitajima, Yuji NakastujiAbstractMitochondrial encephalopathy, lactic acidosis, and stroke-like episodes (MELAS) is caused by defective oxidative phosphorylation in the cerebral parenchyma, cerebral blood vessels, and leptomeningeal tissue. Although increased serum and cerebrospinal fluid (CSF) lactate level has been used as a diagnostic biomarker in patients with MELAS, no biomarkers reflecting disease activity exist. Since we hav...
Source: Mitochondrion - November 20, 2019 Category: Biochemistry Source Type: research

Mitochondrial DNA 10158T>C mutation in a patient with mitochondrial encephalomyopathy with lactic acidosis, and stroke-like episodes syndrome: A case-report and literature review (CARE-complaint)
Rationale: Mitochondrial encephalomyopathy with lactic acidosis and stroke- like episodes (MELAS) syndrome is caused by mitochondrial respiratory chain dysfunction and oxidative phosphorylation disorder. It is a rare clinical metabolic disease involved with multiple systems. Patient concerns: A 22-year-old patient presented with limb convulsion accompanied by loss of consciousness, headache, partial blindness, blurred vision, and so on. Diagnoses: Brain magnetic resonance imaging showed a high-intensity area in bilateral occipital cortex, left parietal lobe and cerebellum on diffusion-weighted imaging. These focus ...
Source: Medicine - June 12, 2020 Category: Internal Medicine Tags: Research Article: Clinical Case Report Source Type: research

Contribution of nuclear and mitochondrial gene mutations in mitochondrial encephalopathy, lactic acidosis, and stroke-like episodes (MELAS) syndrome
ConclusionIndividuals with MELAS exhibit clinical phenotypes with varying degree of severity affecting multiple systems including auditory, visual, cardiovascular, endocrine, and nervous system. This is the first report to show that nuclear genetic factors influence the clinical outcomes/manifestations of MELAS subjects alone or in combination with m.3243A  >  G mutation.
Source: Journal of Neurology - January 23, 2021 Category: Neurology Source Type: research