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Adult-onset status epilepticus in patients with COQ8A coenzyme Q10 deficiency: A case series.
Epilepsy Behav Rep
October 2024
Department of Psychiatry and Psychotherapy, Philipps-University Marburg, Marburg, Germany.
This case series describes the clinical features, diagnostic challenges, treatment approaches, and outcomes of three adult patients with COQ8A-related CoQ10 deficiency presenting with focal status epilepticus, who were effectively treated at the Department of Neurology, Philipps University Marburg, Marburg, Germany. The patients, all from consanguineous families with the first two being siblings, presented with a late onset of the disease, characterized by progressive cerebellar ataxia and epilepsy, with clinical deterioration and focal status epilepticus occurring in adulthood. The first patient exhibited myoclonic status, while the second and third patients presented with bilateral tonic-clonic seizures followed by focal status epilepticus manifesting with cortical blindness.
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- Exfoliation Syndrome (XFS) is an age-related condition affecting the eye, leading to the accumulation of fibrillar materials that can cause Exfoliation Glaucoma (XFG), a form of secondary open-angle glaucoma.
- XFG is linked to neurodegenerative disease features and characterized by mitochondrial dysfunction, including impaired energy production and increased reactive oxygen species (ROS) in affected cells.
- Research shows that treating XFG patient-derived cells with agents like Urolithin A and Nicotinamide Ribose can help improve mitochondrial function and reduce ROS, suggesting a potential therapeutic approach for XFG.
Mitochondria-Associated Gene SLC25A32 as a Novel Prognostic and Immunotherapy Biomarker: From Pan-Cancer Multiomics Analysis to Breast Cancer Validation.
Anal Cell Pathol (Amst)
December 2024
Department of Pathology, Southern Medical University Hospital of Integrated Traditional Chinese and Western Medicine, Southern Medical University, Guangzhou, Guangdong 510315, China.
Background: Mutations in SLC25A32 in humans cause late-onset exercise intolerance, which is associated with various neurological and metabolic diseases. However, its specific mechanism of action in tumour development is poorly understood owing to the lack of multiomics integrated analysis of SLC25A32 in pan-cancer.
Methods: We used various analytical tools to comprehensively investigate the transcription, protein level, and promoter methylation of SLC25A32.
Rlip76 in ageing and Alzheimer's disease: Focus on oxidative stress and mitochondrial mechanisms.
Ageing Res Rev
January 2025
Department of Internal Medicine, Texas Tech University Health Sciences Center, Lubbock, TX 79430, USA; Nutritional Sciences Department, College of Human Sciences, Texas Tech University, Lubbock, TX 79409, United States; Department of Pharmacology and Neuroscience, Texas Tech University Health Sciences Center, Lubbock, TX 79430, USA; Department of Neurology, Texas Tech University Health Sciences Center, Lubbock, TX 79430, USA 5. Department of Public Health, Graduate School of Biomedical Sciences, Texas Tech University Health Sciences Center, Lubbock, TX 79430, USA; Department of Speech, Language, and Hearing Sciences, Texas Tech University Health Sciences Center, Lubbock, TX 79430, USA. Electronic address:
Article Synopsis
- * The protein is crucial for various physiological processes, including oxidative stress response and mitochondrial function, and its interaction with Alzheimer's disease proteins suggests a link to neurological health issues like oxidative stress and cognitive decline.
- * Research involving Rlip in animal models of Alzheimer's disease reveals that altering its levels can lead to significant mitochondrial and cognitive impairments, indicating its potential as a therapeutic target in Alzheimer's progression and treatment.
Exosomes, Endosomes, and Caveolae as Encouraging Targets with Favorable Gut Microbiota for the Innovative Treatment of Alzheimer's Diseases.
Discov Med
November 2024
Department of Food Science and Nutrition, Nara Women's University, 630-8506 Nara, Japan.
Neurodegenerative diseases are characterized by progressive damage to specific neuronal cells, resulting in cognitive impairments. Alzheimer's disease is one of the most common types of cognitive impairments. Until recently, strategies that prevent its clinical progression have remained elusive.
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