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Specialty: Biochemistry
Condition: Mitochondrial Disease

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Total 44 results found since Jan 2013.

Quantitative Clinical Proteomic Study of Autopsied Human Infarcted Brain Specimens to Elucidate the Deregulated Pathways in Ischemic Stroke Pathology.
Abstract Ischemic stroke, still lacking an effective neuroprotective therapy is the third leading cause of global mortality and morbidity. Here, we have applied an 8-plex iTRAQ-based 2D-LC-MS/MS strategy to study the commonly regulated infarct proteome from three different brain regions (putamen, thalamus and the parietal lobe) of female Japanese patients. Infarcts were compared with age-, post-mortem interval- and location-matched control specimens. The iTRAQ experiment confidently identified 1520 proteins with 0.1% false discovery rate. Bioinformatic data mining and immunochemical validation of pivotal perturbed...
Source: Journal of Proteomics - September 2, 2013 Category: Biochemistry Authors: Datta A, Akatsu H, Heese K, Sze SK Tags: J Proteomics 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

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

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

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

Primary astrocytic mitochondrial transplantation ameliorates ischemic stroke
In this study, we observed that treatment with mitochondria isolated from rat primary astrocytes enhanced cell viability and ameliorated hydrogen peroxide-damaged neurons. Interestingly, isolated astrocytic mitochondria increased the number of cells under damaged neuronal conditions, but not under normal conditions, although the mitochondrial transfer efficiency did not differ between the two conditions. This effect was also observed after transplanting astrocytic mitochondria in a rat middle cerebral artery occlusion model. These findings suggest that mitochondria transfer therapy can be used to treat acute ischemic strok...
Source: BMB Reports - October 4, 2022 Category: Biochemistry Authors: Eun-Hye Lee Minkyung Kim Seung Hwan Kim Chun-Hyung Kim Minhyung Lee Chang-Hwan Park Source Type: research