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Condition: Mitochondrial Disease

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Total 851 results found since Jan 2013.

TMED10 inhibits mitochondrial damage and protects neurons in ischemic stroke via the JNK signaling pathway
Exp Anim. 2022 Oct 14. doi: 10.1538/expanim.22-0060. Online ahead of print.ABSTRACTStroke, a type of acute cerebrovascular disease, is a global disease with high mortality. Neuronal ischemia and hypoxia are closely related to occurrence and development of cognitive impairment. Transmembrane p24 trafficking protein 10 (TMED10) as a transmembrane protein involves in vesicle protein transport in the secretory pathways. However, the function and mechanism of TMED10 on ischemic stroke and cognitive impairments remain unclear. In current study, TMED10 was highly expressed in cerebral ischemic penumbra of middle cerebral artery o...
Source: Experimental Animals - October 16, 2022 Category: Research Authors: Qiushi Li Xuying Liu Ruixian Xing Rubo Sui Source Type: research

Is There any Link between Madelung Disease and Ischemic Stroke ? A Case Report
Clara Lunardon, Elisa Zavattaro, Lorenzo Coppo, Paola Savoia, Enrico Colombo, Cristoforo Comi, Roberto CantelloNeurology India 2022 70(5):2166-2168 A 70-year-old man presented to the Emergency Department with left hemiparesis, slurred speech, and elevated blood pressure. A brain computed tomography scan revealed an ischemic lesion in the right frontal and parietal lobes. At clinical examination bilateral pseudo gynecomastia was detected together with the presence of multiple elastic, adipose bulging masses on the neck, trunk, and upper limbs. A type I–II Lanois–Bensaude syndrome was diagnosed. Ul...
Source: Neurology India - October 21, 2022 Category: Neurology Authors: Clara Lunardon Elisa Zavattaro Lorenzo Coppo Paola Savoia Enrico Colombo Cristoforo Comi Roberto Cantello Source Type: research

miR-9a-5p Protects Ischemic Stroke by Regulating Oxidative Stress and Mitochondrial Autophagy
CONCLUSION: miR-9a-5p protects against ischemic stroke by inhibiting OGD/R-induced mitochondrial autophagy and alleviating cellular oxidative stress injury.PMID:36845011 | PMC:PMC9957637 | DOI:10.1155/2023/5146305
Source: Disease Markers - February 27, 2023 Category: Laboratory Medicine Authors: Chunli Ma Qing Gao Li Zhang Geng Wu Chao Li Jun Chen Yuxuan Fu Lei Yang Source Type: research

Molecules, Vol. 28, Pages 2297: Inhibition of TLR4 Alleviates Heat Stroke-Induced Cardiomyocyte Injury by Down-Regulating Inflammation and Ferroptosis
In conclusion, this study illustrated that inhibition of the TLR4/NF-&kappa;B signaling pathway can regulate the inflammatory response and ferroptosis induced by HS, which provides new information and a theoretical basis for the basic research and clinical treatment of cardiovascular injuries caused by HS.
Source: Molecules - March 1, 2023 Category: Chemistry Authors: Dandan Chen Yao Geng Ziwei Deng Peiling Li Shujing Xue Tao Xu Guanghua Li Tags: Article Source Type: research

Mitochondrial encephalopathy, lactic acidosis, and stroke-like episodes diagnosed after metformin-triggered stroke-like episodes
A 40-year-old man with sensorineural hearing loss and diabetes mellitus was hospitalized with acute-onset impaired consciousness and clumsiness in his left hand. He had been taking metformin (750 mg/day) for 4 months. He had no febrile illness, energy failure, or use of mitochondria-toxic drugs other than metformin. The patient had a family history of diabetes mellitus (maternal uncle and aunt). His weight and height were 35 kg and 1.58 m, respectively. A neurological examination revealed confusion and weakness in the left upper limb.
Source: Journal of Stroke and Cerebrovascular Diseases - March 16, 2023 Category: Neurology Authors: Keishu Murakami, Ken Sakamoto, Hiroshi Ishiguchi, Hidefumi Ito Tags: Case Report Source Type: research

Astragaloside IV alleviates neuronal ferroptosis in ischemic stroke by regulating fat mass and obesity ‐associated—N6‐methyladenosine—acyl‐CoA synthetase long‐chain family member 4 axis
Ischemic stroke (IS) is a detrimental neurological disease with limited treatments options. Astragaloside IV (As-IV) was a promising bioactive constituent in the treatment of IS. In our study, As-IV promoted the transcription of fat mass and obesity-associated (Fto) by upregulating activating transcription factor 3(Atf3), resulting in a decrease of long-chain acyl-CoA synthetase-4 (Acsl4) N6-methyladenosine (m6A) levels, thus improving neuronal injury in IS by inhibiting ferroptosis. These findings provided a better understanding of the molecular mechanisms underlying the neuroprotective effects of As-IV and led to novel t...
Source: Journal of Neurochemistry - June 10, 2023 Category: Neuroscience Authors: Zhenglong Jin, Wenying Gao, Fu Guo, Shaojun Liao, Mingzhe Hu, Tao Yu, Shangzhen Yu, Qing Shi Tags: ORIGINAL ARTICLE Source Type: research

The medical research council neuromuscular centre for translational research mitochondrial disease patient cohort study uk: from conceptualisation to utilisation
Conclusion For the first time in the UK it is possible to access a large cohort of well–characterised patients with mitochondrial disease. The cohort provides objective data on mitochondrial disease progression, in children and adults, allowing evidence–based guidelines to be developed, and prognostic advice to be provided to patients and families. There is a vast amount of data still to be analysed that will provide systematic evidence and allow the development of disease prevention strategies.
Source: Journal of Neurology, Neurosurgery and Psychiatry - October 9, 2013 Category: Neurosurgery Authors: Nesbitt, V., Pitceathly, R., Cockell, S., Poulton, J., Rahman, S., Hanna, M., Taylor, R., Chinnery, P., Turnbull, D., McFarland, R. Tags: Genetics, Epilepsy and seizures, Headache (including migraine), Muscle disease, Neuromuscular disease, Stroke, Musculoskeletal syndromes Association of British Neurologists (ABN) joint meeting with the Royal College of Physicians (RCP), London, 23-24 Oc Source Type: research

Dichotomous Effects of Chronic Intermittent Hypoxia on Focal Cerebral Ischemic Injury Basic Sciences
Conclusions— The influence of CIH on the ischemic brain is dichotomous and can be attributed, in part, to changes in the mitochondrial susceptibility to injury. The findings highlight a previously unappreciated complexity in the effect of CIH on the brain, which needs to be considered in evaluating the neurological effect of conditions associated with cyclic hypoxia.
Source: Stroke - April 28, 2014 Category: Neurology Authors: Jackman, K. A., Zhou, P., Faraco, G., Peixoto, P. M., Coleman, C., Voss, H. U., Pickel, V., Manfredi, G., Iadecola, C. Tags: Animal models of human disease Basic Sciences Source Type: research

Late adult onset MELAS, presenting as non-convulsive status and atypical strokes. (P2.257)
CONCLUSIONS: Adult-onset strokes due to MELAS have rarely been described and are usually suspected in the setting of recurrent strokes. Our patient was diagnosed at her initial attack because of her unique presentation. We believe that MELAS should be considered in all adult patients presenting with atypical strokes and seizures.Disclosure: Dr. Raval has nothing to disclose. Dr. El-Ghanem has nothing to disclose. Dr. Hillen has nothing to disclose.
Source: Neurology - April 8, 2015 Category: Neurology Authors: Raval, B., El-Ghanem, M., Hillen, M. Tags: Cerebrovascular Disease and Interventional Neurology: Genetics and Stroke Source Type: research

Resveratrol Preconditioning Protects Against Cerebral Ischemic Injury via Nuclear Erythroid 2-Related Factor 2 Basic Sciences
Conclusions— Nrf2 contributes to RPC-induced neuroprotection through maintaining mitochondrial coupling and antioxidant protein expression.
Source: Stroke - May 22, 2015 Category: Neurology Authors: Narayanan, S. V., Dave, K. R., Saul, I., Perez-Pinzon, M. A. Tags: Animal models of human disease Basic Sciences 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.
Source: Clinica Chimica Acta - July 28, 2015 Category: Laboratory Medicine Source Type: research

A tennis lesson: sharp practice in the science behind the Sharapova case
Maria Sharapova (and hundreds of other elite athletes) took meldonium, a drug developed at the time of the USSR for the treatment of heart attack and stroke, though it has never been approved for use anywhere outside of the former Soviet Union. Meldonium is an inhibitor of -butyrobetaine hydroxylase, an enzyme involved in the carnitine biosynthetic pathway.1 Intake results in a reduction of tissue carnitine content, including the heart and skeletal muscles. Carnitine plays a critical role in transferring long-chain fatty acids across mitochondrial inner membrane into the mitochondrial matrix, to enable entry of the fatty a...
Source: Postgraduate Medical Journal - July 25, 2016 Category: Journals (General) Authors: Arduini, A., Zammit, V. A. Tags: Cardiomyopathy, Open access, Drugs: infectious diseases, Drugs: cardiovascular system, Epilepsy and seizures, Stroke, Interventional cardiology, Ischaemic heart disease, Diabetes, Metabolic disorders, Occupational and environmental medicine Editorials Source Type: research

The acute complications of melas: a case series
Mitochondrial cytopathies are maternally inherited disorders of ATP production, with a predilection for primarily affecting the CNS. Many clinical phenotypes exist, each with varying involvement of skeletal and cardiac muscles, the kidneys and gastrointestinal system. Mitochondrial cytopathies can present early in life, but increasingly neurologists are faced with acute presentations of mitochondrial disease in adulthood. MELAS (mitochondrial encephalopathy, lactic acidosis and stroke-like syndrome) is a mitochondrial disorder that can present both insidiously and acutely. Common acute features are encephalopathy, seizures...
Source: Journal of Neurology, Neurosurgery and Psychiatry - November 14, 2016 Category: Neurosurgery Authors: Bramhall, N., Jones, M. Tags: Epilepsy and seizures, Stroke, Psychotic disorders (incl schizophrenia) ABN Annual Meeting, 17-19 May 2016, The Brighton Centre, Brighton Source Type: research

Common data elements for clinical research in mitochondrial disease: a National Institute for Neurological Disorders and Stroke project
ConclusionWe developed a comprehensive set of CDE recommendations, data definitions, case report forms (CRFs), and guidelines for use in Mito clinical research. The widespread use of CDEs is intended to enhance Mito clinical research endeavors, including natural history studies, clinical trial design, and data sharing. Ongoing international collaboration will facilitate regular review, updates and online publication of Mito CDEs, and support improved consistency of data collection and reporting.
Source: Journal of Inherited Metabolic Disease - March 15, 2017 Category: Internal Medicine Source Type: research

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