Mitochondrial dysfunction and neurological disorders: A narrative review and treatment overview

Life Sciences, Год журнала: 2023, Номер 334, С. 122257 - 122257

Опубликована: Ноя. 8, 2023

Язык: Английский

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Mitochondrial Epilepsy, a Challenge for Neurologists

International Journal of Molecular Sciences, Год журнала: 2022, Номер 23(21), С. 13216 - 13216

Опубликована: Окт. 30, 2022

Primary mitochondrial diseases are relatively common inborn errors of energy metabolism, with a combined prevalence 1 in 4300. These disorders typically affect tissues high requirements, including the brain. Epilepsy affects >1% worldwide population, making it one most neurological illnesses; may be presenting feature disease, but is often part multisystem clinical presentation. The major genetic causes epilepsy mutations DNA and nuclear-encoded gene POLG. Treatment challenging, representing poor prognostic feature. This narrative review will cover recent advances field epilepsy, from pathophysiology etiologies to phenotype treatment options.

Язык: Английский

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New Insights into Mitochondria in Health and Diseases

International Journal of Molecular Sciences, Год журнала: 2024, Номер 25(18), С. 9975 - 9975

Опубликована: Сен. 16, 2024

Mitochondria are a unique type of semi-autonomous organelle within the cell that carry out essential functions crucial for cell's survival and well-being. They location where eukaryotic cells energy metabolism. Aside from producing majority ATP through oxidative phosphorylation, which provides cellular functions, mitochondria also participate in other metabolic processes cell, such as electron transport chain, citric acid cycle, β-oxidation fatty acids. Furthermore, regulate production elimination ROS, synthesis nucleotides amino acids, balance calcium ions, process death. Therefore, it is widely accepted mitochondrial dysfunction factor causes or contributes to development advancement various diseases. These include common systemic diseases, aging, diabetes, Parkinson's disease, cancer, well rare disorders, like Kearns-Sayre syndrome, Leigh myopathy. This overview outlines mechanisms by involved numerous illnesses physiological activities. Additionally, new discoveries regarding involvement both disorders maintenance good health.

Язык: Английский

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Sodium butyrate ameliorates mitochondrial oxidative stress and alterations in membrane-bound enzyme activities in pentylenetetrazole-induced kindling rat model

Metabolic Brain Disease, Год журнала: 2025, Номер 40(2)

Опубликована: Фев. 6, 2025

Язык: Английский

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Epilepsy: Mitochondrial connections to the ‘Sacred’ disease

Mitochondrion, Год журнала: 2023, Номер 72, С. 84 - 101

Опубликована: Авг. 13, 2023

Over 65 million people suffer from recurrent, unprovoked seizures. The lack of validated biomarkers specific for myriad forms epilepsy makes diagnosis challenging. Diagnosis and monitoring childhood add to the need non-invasive biomarkers, especially when evaluating antiseizure medications. Although underlying mechanisms epileptogenesis are not fully understood, evidence mitochondrial involvement is substantial. Seizures affect 35%-60% patients diagnosed with diseases. Mitochondrial dysfunction pathophysiological in various epilepsies, including those non-mitochondrial origin. Decreased ATP production caused by malfunctioning brain cell mitochondria leads altered neuronal bioenergetics, metabolism neurological complications, Iron-dependent lipid peroxidation initiates ferroptosis, a death pathway that aligns morphology found neurodegenerative diseases (NDDs). Studies mouse genetic models seizure phenotypes where function an essential selenoprotein (GPX4) targeted suggest roles ferroptosis epilepsy. GPX4 pivotal NDDs, selenium protects interneurons ferroptosis. Selenium central nervous system micronutrient trace element. Low serum concentrations other elements minerals, iron, noted diagnosing supplements alleviate intractable seizures children reduced GPX activity. Copper cuproptosis, like iron link NDDs. Connecting these mechanistic pathways selenoproteins provides new insights into treating seizures, pointing using medicines prodrugs lipoic acid treat potential alternative therapeutic approaches transcranial magnetic stimulation (transcranial), photobiomodulation vagus nerve stimulation.

Язык: Английский

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Mitochondrial dysfunction in cognitive neurodevelopmental disorders: Cause or effect?

Mitochondrion, Год журнала: 2023, Номер 69, С. 18 - 32

Опубликована: Янв. 6, 2023

Язык: Английский

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Recent advances in nanotherapy-based treatment of epilepsy

Colloids and Surfaces B Biointerfaces, Год журнала: 2025, Номер 249, С. 114499 - 114499

Опубликована: Янв. 6, 2025

Язык: Английский

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Insight into molecular and mutational scrutiny of epilepsy associated gene Gabrg2 leading to novel computer-aided drug designing

Scientific Reports, Год журнала: 2025, Номер 15(1)

Опубликована: Фев. 25, 2025

Epilepsy is a neurological disorder that major cause of disability in the world. This most severe medical condition related with different ion channel genes, inflammatory molecules depression and stress. For this purpose, precise diagnostic techniques are available. Genetic polymorphisms factors behind occurrence many disorders therefore they can be valid for purpose. study emphasis finding such markers Lahore population. Epilepsy-causing gene GABRG2 was selected, then examined to detect presence polymorphic help molecular (PCR) computational analysis. 50 blood samples epilepsy patients were collected from Children hospital Lahore, out which 2 shown positive response gene, indicating becoming seizures patients. These underwent mutational screening, revealed 6 new mutations exon 3 region these as result disease occurrence. There no proper treatments offered despite development anti-leptic anti-seizure drugs. To solve issue, researchers working create innovative methods treating epilepsy, incorporate use herbal remedies. 31 plant compounds have been used but only one compound cyanidin selected on base best binding affinity. Moreover, SwissAdme, QSAR analysis simulations demonstrated natural drug model responses compared other epileptic drugs tested future application laboratories.

Язык: Английский

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Adult-onset Leigh syndrome with recurrent seizures and peripheral neuropathy due to the 9176T > C mutation: a case report and literature review

BMC Neurology, Год журнала: 2025, Номер 25(1)

Опубликована: Март 26, 2025

Leigh syndrome (LS) is an inherited form of mitochondrial encephalopathy associated with various gene mutations the oxidative phosphorylation system, typically occurring in infancy or early childhood and resulting disability even death. However, few late-onset cases have been reported. The objective this case report was to investigate radiological clinical characteristics adult patient diagnosed syndrome. This article describes a who presented recurrent generalized seizures, peripheral neuropathy hypertension ultimately variant, c.9176T > C (p.Leu217Pro), 20,315 MT-ATP6 gene. Here, we discuss possible pathogenesis its manifestations according related literature review current therapeutic approaches prognosis LS. A diagnosis LS should be taken into consideration when patients characteristic neuroimaging findings demonstrate neuropathy, hypertension, genetic analysis carried out for differential diagnosis.

Язык: Английский

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Kynurenine Pathway in Epilepsy: Unraveling Its Role in Glutamate Excitotoxicity, GABAergic Dysregulation, Neuroinflammation, and Mitochondrial Dysfunction

Neurotoxicity Research, Год журнала: 2025, Номер 43(2)

Опубликована: Март 28, 2025

Язык: Английский

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