Advances in Huntington’s Disease Biomarkers: A 10-Year Bibliometric Analysis and a Comprehensive Review

Biology, Год журнала: 2025, Номер 14(2), С. 129 - 129

Опубликована: Янв. 26, 2025

Neurodegenerative disorders (NDs) cause progressive neuronal loss and are a significant public health concern, with NDs projected to become the second leading global of death within two decades. Huntington’s disease (HD) is rare, ND caused by an autosomal-dominant mutation in huntingtin (HTT) gene, severe brain resulting debilitating motor, cognitive, psychiatric symptoms. Given complex pathology HD, biomarkers essential for performing early diagnosis, monitoring progression, evaluating treatment efficacy. However, identification consistent HD challenging due prolonged premanifest stage, HD’s heterogeneous presentation, its multiple underlying biological pathways. This study involves 10-year bibliometric analysis biomarker research, revealing key research trends gaps. The also features comprehensive literature review emerging biomarkers, concluding need better stratification patients well-designed longitudinal studies validate biomarkers. Promising candidate wet biomarkers— including neurofilament light chain protein (NfL), microRNAs, mutant HTT protein, specific metabolic inflammatory markers— discussed, emphasis on their potential utility stage. Additionally, reflecting structural deficits motor or behavioral impairments, such as neurophysiological (e.g., tapping, speech, EEG, event-related potentials) imaging MRI, PET, diffusion tensor imaging) evaluated. findings underscore that discovery validation reliable urgently require improved patient studies. Reliable particularly crucial optimizing clinical management strategies, enabling personalized approaches, advancing trials HD-modifying therapies.

Язык: Английский

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A REVIEW ARTICLE ON TREATING HUNTINGTON’S DISEASE: CURRENT AND EMERGING THERAPEUTIC ASPECTS

Innovare Journal of Medical Sciences, Год журнала: 2025, Номер unknown, С. 6 - 13

Опубликована: Янв. 1, 2025

A rare genetic neurodegenerative disorder called Huntington’s disease (HD) causes nerve cells to progressively die. When the trinucleotide CAG repeats are <36, it is regarded as “normal.” repetitions in huntingtin gene >36, polyglutamine (polyQ) tract leads polyQ poisoning, which turn psychological, genetic, and movement disorders hallmarks of HD. One particularly concerning aspect HD its controlling inheritance pattern, this indicates that each child born a parent who exaggerated through condition has 50% likelihood having lineage mutated disease. As result, there significant risk offspring individuals with may also develop condition. The underlying molecular mechanisms resulting visible loss neurons remain incompletely elucidated, current therapeutic approaches primarily aim alleviate symptoms. Many symptoms can be treated prescription medications currently available. These include prescribed medication for chorea, tranquilizers, calming agents, antidepressants, non-pharmacological therapy. Additional possible treatments now undergoing clinical research RNA interference therapies, therapies targeting using tiny molecules, antibody stem cell small molecule not RNA, concentrating on neuroinflammation. Among potential presently pre-clinical development stages zinc-finger protein transcription activator-like effector nuclease rehabilitations involving clustered regularly interspaced short palindromic (CRISPS)/CRISPS-associated system. Therefore, purpose comprehensive review discuss efficacy medicines look into insights new emerging under stage.

Язык: Английский

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Natural flavonoids from herbs and nutraceuticals as ferroptosis inhibitors in central nervous system diseases: current preclinical evidence and future perspectives

Frontiers in Pharmacology, Год журнала: 2025, Номер 16

Опубликована: Март 24, 2025

Flavonoids are a class of important polyphenolic compounds, renowned for their antioxidant properties. However, recent studies have uncovered an additional function these natural flavonoids: ability to inhibit ferroptosis. Ferroptosis is key mechanism driving cell death in central nervous system (CNS) diseases, including both acute injuries and chronic neurodegenerative disorders, characterized by iron overload-induced lipid peroxidation dysfunction the defense system. This review discusses therapeutic potential flavonoids from herbs nutraceuticals as ferroptosis inhibitors CNS focusing on molecular mechanisms, summarizing findings preclinical animal models, providing insights clinical translation. We specifically highlight such Baicalin, Baicalein, Chrysin, Vitexin, Galangin, Quercetin, Isoquercetin, Eriodictyol, Proanthocyanidin, (−)-epigallocatechin-3-gallate, Dihydromyricetin, Soybean Isoflavones, Calycosin, Icariside II, Safflower Yellow, which shown promising results models injuries, ischemic stroke, cerebral ischemia-reperfusion injury, intracerebral hemorrhage, subarachnoid traumatic brain spinal cord injury. Among these, Baicalin its precursor Baicalein stand out due extensive research favorable outcomes injury models. Mechanistically, not only regulate Nrf2/ARE pathway activate GPX4/GSH-related pathways but also modulate metabolism proteins, thereby alleviating overload inhibiting While show promise especially settings, further needed evaluate efficacy, safety, pharmacokinetics, blood-brain barrier penetration application.

Язык: Английский

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DNA polymer conjugates: Revolutionizing neurological disorder treatment through targeted drug delivery

Next Materials, Год журнала: 2024, Номер 7, С. 100336 - 100336

Опубликована: Авг. 3, 2024

Язык: Английский

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Oxidative Stress in Huntington’s Disease

Biomolecules, Год журнала: 2025, Номер 15(4), С. 527 - 527

Опубликована: Апрель 4, 2025

Although the pathogenesis of neurodegenerative phenomena Huntington’s disease (HD) is not well known, in last 30 years, numerous data have been published that suggest a possible role oxidative stress. The majority studies regarding this issue were performed different experimental models (neurotoxic such as intraperitoneal injection 3-nitropropionic acid or intrastriatal quinolinic acid, transgenic animal for HD, and cell cultures) and, less frequently, samples brain tissue, plasma/serum, blood cells, other tissues from patients with genetic–molecular diagnosis presymptomatic symptomatic HD compared to healthy controls. In narrative review, we summarized main which stress parameters measured both same disease, few on gene variants involved HD. Most addressing shown an increase markers stress, decrease antioxidant substances, both. However, results conclusive matter. meta-analysis (including pool serum studies) has lipid peroxidation markers, OH8dG concentrations, GPx activity GSH levels. Future prospective multicenter long-term follow-up period involving large number controls are needed address topic.

Язык: Английский

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Redox chemical delivery system: an innovative strategy for the treatment of neurodegenerative diseases

Expert Opinion on Drug Delivery, Год журнала: 2025, Номер unknown

Опубликована: Апрель 5, 2025

It is anticipated that the prevalence of illnesses affecting central nervous system (CNS) will rise significantly due to longer lifespans and changing demography. Age-related decline in brain function neuronal death are features neurodegenerative disorders, such as Parkinson's disease, Alzheimer's Huntington's amyotrophic lateral sclerosis, which provide formidable treatment challenges. Because most therapeutic drugs cannot pass across blood-brain barrier (BBB) reach brain, there still few alternatives available despite a great deal research. This study explores role redox chemical delivery systems CNS drug addresses challenges associated with disease (ND). Redox Chemical Delivery System offers promising approach enhancing leveraging reactions facilitate transport agents BBB. Through optimization medication pathways this technology has potential greatly improve ND. As our understanding biological underpinnings ND deepens, for effective interventions increases. Refining strategies, RCDS, essential advancing therapies from research clinical practice. These advancements could transform management ND, improving both efficacy patient outcomes.

Язык: Английский

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The Imidazoline Receptors as a new therapeutic target in Huntington’s disease: A Preclinical Overview

Ageing Research Reviews, Год журнала: 2024, Номер 101, С. 102482 - 102482

Опубликована: Сен. 3, 2024

Язык: Английский

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UBE3A: Bridging the gap between neurodevelopment, neural function, and neurodegenerative woes

Journal of Alzheimer s Disease, Год журнала: 2024, Номер 102(1), С. 3 - 10

Опубликована: Окт. 17, 2024

Post-translational modifications (PTMs) of proteins play a significant role in normal protein function but can also be instrumental disease pathogenesis. One critical yet under-studied PTM is ubiquitination. Ubiquitin chain addition and substrate specificity are determined by large spectrum ubiquitin-ligating -modifying enzymes, E3 ligases, whose expression levels activities tightly regulated cell-specific manner. While most ubiquitin chains target for proteasomal degradation, ubiquitination contribute to other functions within the cell, including localization, activity, endocytosis, transcription, autophagy. ligase, UBE3A, has garnered much attention because its involvement learning memory, as well association with neurodevelopmental autism disorders (ASDs). However, more recent findings have suggested potential UBE3A neurodegenerative proteinopathies, where reduced lead an enhanced rate aggregate formation cell death. Here, we review literature on neurodevelopment, function, diseases demonstrate that could progression cognitive function.

Язык: Английский

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Enfermedad de Huntington: Un abordaje desde lo celular y lo fisiológico

Revista Salud Bosque, Год журнала: 2022, Номер 14(2)

Опубликована: Авг. 23, 2022

La comprensión de las causas, desarrollo y tratamiento la enfermedad Huntington representan un reto para el personal médico, porque requiere una adecuada interpretación del plano genético, histológico fisiopatológico sistema nervioso. Entender a esta neurodegenerativa no solo como proceso resultado alteración genética, sino complejo modificado en red, características morfológicas fisiológicas diferentes poblaciones celulares, permitirían generar abordaje puntual patología. El siguiente articulo describe celulares metabólicas más relevantes buscando brindar al lector reconociendo integral enfermedad.

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