Mitochondria on the move: Horizontal mitochondrial transfer in disease and health

The Journal of Cell Biology, Год журнала: 2023, Номер 222(3)

Опубликована: Фев. 16, 2023

Mammalian genes were long thought to be constrained within somatic cells in most cell types. This concept was challenged recently when cellular organelles including mitochondria shown move between mammalian culture via cytoplasmic bridges. Recent research animals indicates transfer of cancer and during lung injury vivo, with considerable functional consequences. Since these pioneering discoveries, many studies have confirmed horizontal mitochondrial (HMT) its characteristics consequences been described. Additional support for this phenomenon has come from phylogenetic studies. Apparently, trafficking occurs more frequently than previously contributes diverse processes bioenergetic crosstalk homeostasis, disease treatment recovery, development resistance therapy. Here we highlight current knowledge HMT cells, focusing primarily on vivo systems, contend that process is not only (patho)physiologically relevant, but also can exploited the design novel therapeutic approaches.

Язык: Английский

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Vaping Dose, Device Type, and E-Liquid Flavor are Determinants of DNA Damage in Electronic Cigarette Users

Nicotine & Tobacco Research, Год журнала: 2023, Номер 25(6), С. 1145 - 1154

Опубликована: Фев. 14, 2023

Despite the widespread use of electronic cigarettes, long-term health consequences vaping are largely unknown.

Язык: Английский

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The potential of mitochondrial genome engineering

Nature Reviews Genetics, Год журнала: 2021, Номер 23(4), С. 199 - 214

Опубликована: Дек. 2, 2021

Язык: Английский

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Understanding the molecular basis and pathogenesis of hereditary optic neuropathies: towards improved diagnosis and management

The Lancet Neurology, Год журнала: 2022, Номер 22(2), С. 172 - 188

Опубликована: Сен. 22, 2022

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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Clinical Manifestations and Pathogenesis of Acute Necrotizing Encephalopathy: The Interface Between Systemic Infection and Neurologic Injury

Frontiers in Neurology, Год журнала: 2022, Номер 12

Опубликована: Янв. 4, 2022

Acute necrotizing encephalopathy (ANE) is a devastating neurologic condition that can arise following variety of systemic infections, including influenza and SARS-CoV-2. Affected individuals typically present with rapid changes in consciousness, focal neurological deficits, seizures. Neuroimaging reveals symmetric, bilateral deep gray matter lesions, often involving the thalami, evidence necrosis and/or hemorrhage. The clinical radiologic picture must be distinguished from direct infection central nervous system by some viruses, metabolic mitochondrial disorders. Outcomes ANE are poor overall worse those brainstem involvement. Specific management directed toward modulating immune responses given potential role inflammation cytokine storm potentiating injury ANE, though benefits such approaches remain unclear. finding many patients have mutations nucleoporin gene RANBP2, which encodes multifunctional protein plays key nucleocytoplasmic transport, may allow for development disease models provide insights into pathogenic mechanisms novel therapeutic approaches.

Язык: Английский

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Focusing on mitochondria in the brain: from biology to therapeutics

Translational Neurodegeneration, Год журнала: 2024, Номер 13(1)

Опубликована: Апрель 17, 2024

Abstract Mitochondria have multiple functions such as supplying energy, regulating the redox status, and producing proteins encoded by an independent genome. They are closely related to physiology pathology of many organs tissues, among which brain is particularly prominent. The demands 20% resting metabolic rate holds highly active mitochondrial activities. Considerable research shows that mitochondria function, while defects induce or exacerbate in brain. In this review, we provide comprehensive advances biology involved functions, well mitochondria-dependent cellular events pathology. Furthermore, various perspectives explored better identify roles neurological diseases neurophenotypes diseases. Finally, therapies discussed. Mitochondrial-targeting therapeutics showing great potentials treatment

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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Genetic testing for mitochondrial disease: the United Kingdom best practice guidelines

European Journal of Human Genetics, Год журнала: 2022, Номер 31(2), С. 148 - 163

Опубликована: Дек. 13, 2022

Abstract Primary mitochondrial disease describes a diverse group of neuro-metabolic disorders characterised by impaired oxidative phosphorylation. Diagnosis is challenging; >350 genes, both nuclear and DNA (mtDNA) encoded, are known to cause disease, leading all possible inheritance patterns further complicated heteroplasmy the multicopy genome. Technological advances, particularly next-generation sequencing, have driven shift in diagnostic practice from ‘biopsy first’ genome-wide analyses blood and/or urine DNA. This has led need for reference framework laboratories involved genetic testing facilitate consistent high-quality service. In United Kingdom, consensus guidelines been prepared working Clinical Scientists NHS Highly Specialised Service followed national laboratory consultation. These summarise current recommended technologies methodologies analysis mtDNA nuclear-encoded genes patients with suspected disease. Genetic strategies diagnosis, family reproductive options including prenatal diagnosis outlined. Importantly, recommendations minimum levels most common referral reasons included, as well guidance on appropriate referrals information minimal gene content panels when analysing genes. Finally, variant interpretation reporting results discussed, focussing challenges interpreting variants.

Язык: Английский

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Personalized Medicine in Mitochondrial Health and Disease: Molecular Basis of Therapeutic Approaches Based on Nutritional Supplements and Their Analogs

Molecules, Год журнала: 2022, Номер 27(11), С. 3494 - 3494

Опубликована: Май 29, 2022

Mitochondrial diseases (MDs) may result from mutations affecting nuclear or mitochondrial genes, encoding proteins, non-protein-coding RNA. Despite the great variability of affected in most severe cases, a neuromuscular and neurodegenerative phenotype is observed, no specific therapy exists for complete recovery disease. The used treatments are symptomatic based on administration antioxidant cocktails combined with antiepileptic/antipsychotic drugs supportive multiorgan involvement. Nevertheless, real utility cocktail patients by MDs still needs to be scientifically demonstrated. Unfortunately, clinical trials therapies using α-tocopherol, ascorbate, glutathione, riboflavin, niacin, acetyl-carnitine coenzyme Q have met limited success. Indeed, it would expected that employed antioxidants can only effective if they able target mechanism, i.e., involving central peripheral nervous system, responsible manifestations Noteworthily, very often phenotypes characterizing MD associated proteins whose function does not depend cofactors. Conversely, might determine suppression endogenous oxidants resulting deleterious effects cell viability and/or toxicity patients. In order avoid before administering therapy, useful ascertain blood serum levels cofactors administered It also worthwhile check localization should (less more directly) administered, estimating need predicting success proposed cofactor/antioxidant-based therapy.

Язык: Английский

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