Rare Variant Association Studies: Significance, Methods, and Applications in Chronic Pain Studies DOI Creative Commons

Sahel Jahangiri Esfahani,

Xiang Ao,

Anahita Oveisi

et al.

Osteoarthritis and Cartilage, Journal Year: 2024, Volume and Issue: unknown

Published: Dec. 1, 2024

Rare genetic variants, characterized by their low frequency in a population, have emerged as essential components the study of complex disease genetics. The biology rare variants underscores significance, they can exert profound effects on phenotypic variation and susceptibility. Recent advancements sequencing technologies yielded availability large-scale data such UK Biobank whole-exome (WES) cohort empowered researchers to conduct variant association studies (RVASs). This review paper discusses significance available methodologies, applications. We provide an overview studies, emphasizing relevance unraveling architecture diseases with special focus chronic pain Arthritis. Additionally, we discuss strengths limitations various testing methods, outlining typical pipeline for conducting association. encompasses crucial steps quality control WES data, annotation, testing. It serves comprehensive guide field interested datasets like cohort. Lastly, how identified be further investigated through detailed experimental animal models elucidate functional impact underlying mechanisms.

Language: Английский

Chronic Stress and Headaches: The Role of the HPA Axis and Autonomic Nervous System DOI Creative Commons

Aleksandar Sič,

Marko Bogicevic,

Nebojša Brezić

et al.

Biomedicines, Journal Year: 2025, Volume and Issue: 13(2), P. 463 - 463

Published: Feb. 13, 2025

Chronic stress significantly influences the pathogenesis of headache disorders, affecting millions worldwide. This review explores intricate relationship between and headaches, focusing on dysregulation hypothalamic-pituitary-adrenal (HPA) axis autonomic nervous system (ANS). Persistent could lead to neuroinflammation, increased pain sensitivity, vascular changes that contribute development progression. The bidirectional nature this creates a vicious cycle, with recurrent headaches becoming source additional stress. Dysregulation HPA ANS imbalance amplify susceptibility intensifying their frequency severity. While pharmacological interventions remain common, non-pharmacological approaches targeting reduction, such as cognitive-behavioral therapy, biofeedback, relaxation techniques, offer promising avenues for comprehensive management. By addressing underlying stress-related mechanisms, these provide sustainable strategy reduce improve patients' quality life.

Language: Английский

Citations

2
Neurobiological Implications of Chronic Stress and Metabolic Dysregulation in Inflammatory Bowel Diseases DOI Creative Commons

Aleksandar Sič,

Kiana Cvetkovic,

Eshanika Manchanda

et al.

Diseases, Journal Year: 2024, Volume and Issue: 12(9), P. 220 - 220

Published: Sept. 18, 2024

Chronic stress is a significant factor affecting modern society, with profound implications for both physical and mental health. Central to the response cortisol, glucocorticoid hormone produced by adrenal glands. While cortisol release adaptive in acute stress, prolonged exposure elevated levels can result adverse effects. This manuscript explores neurobiological of chronic its impact on metabolic dysregulation, particularly context inflammatory bowel diseases (IBDs). The hypothalamic-pituitary-adrenal (HPA) axis regulates production, which influences metabolism, immune response, neurobiology. Elevated are associated development exacerbation disorders like IBD contribute neurodegenerative processes, including cognitive impairments increased susceptibility psychiatric conditions. interaction between receptors, underscores complexity these review aims elucidate mechanisms through dysregulation health function, providing insights into potential therapeutic strategies mitigating

Language: Английский

Citations

6
Neurovascular unit, neuroinflammation and neurodegeneration markers in brain disorders DOI Creative Commons
Duraisamy Kempuraj,

Kirk D. Dourvetakis,

Jessica R. Cohen

et al.

Frontiers in Cellular Neuroscience, Journal Year: 2024, Volume and Issue: 18

Published: Oct. 25, 2024

Neurovascular unit (NVU) inflammation via activation of glial cells and neuronal damage plays a critical role in neurodegenerative diseases. Though the exact mechanism disease pathogenesis is not understood, certain biomarkers provide valuable insight into pathogenesis, severity, progression therapeutic efficacy. These markers can be used to assess pathophysiological status brain including neurons, astrocytes, microglia, oligodendrocytes, specialized microvascular endothelial cells, pericytes, NVU, blood-brain barrier (BBB) disruption. Damage or derangements tight junction (TJ), adherens (AdJ), gap (GJ) components BBB lead increased permeability neuroinflammation various disorders disorders. Thus, neuroinflammatory evaluated blood, cerebrospinal fluid (CSF), tissues determine neurological progression, responsiveness. Chronic common age-related Alzheimer's (AD), Parkinson's (PD), dementia. Neurotrauma/traumatic injury (TBI) also leads acute chronic responses. The expression some may altered many years even decades before onset In this review, we discuss neuroinflammation, neurodegeneration associated with disorders, especially those neurovascular pathologies. CSF, tissues. Neurofilament light (NfL), ubiquitin C-terminal hydrolase-L1 (UCHL1), fibrillary acidic protein (GFAP), Ionized calcium-binding adaptor molecule 1 (Iba-1), transmembrane 119 (TMEM119), aquaporin, endothelin-1, platelet-derived growth factor receptor beta (PDGFRβ) are important markers. Recent BBB-on-a-chip modeling offers promising potential for providing an in-depth understanding neurotherapeutics. Integration these clinical practice could potentially enhance early diagnosis, monitor improve outcomes.

Language: Английский

Citations

5
Targeting TRPV1 channels in desensitized neural afferent pathways may help mitigate pain and lower urinary tract symptoms caused by prostatitis DOI Creative Commons

Z.-L. Jiang,

A. Li,

Wen Luo

et al.

Frontiers in Pharmacology, Journal Year: 2025, Volume and Issue: 16

Published: Feb. 25, 2025

Chronic prostatitis/chronic pelvic pain syndrome (CPPS/CP) is a prevalent urinary disorder primarily characterized by and discomfort, bladder dysfunction, sexual dysfunction. Currently, there no effective method to alleviate the lower tract symptoms associated with chronic prostatitis. Resiniferatoxin (RTX), highly potent TRPV1 receptor agonist, functions as molecular analgesic desensitizing TRPV1-expressing nerves. While RTX has demonstrated significant efficacy in treating various conditions, research on its application for prostatitis remains lacking. Consequently, we established model investigate whether could this condition. Our observations indicated that both low-dose (200 μg/kg) high-dose (300 effectively relieved caused We noted reduced expression of central pain-inducing substance P reducing dorsal root ganglia (DRG), thereby mitigating pain. also desensitizes nerves bladder, which helps Collectively, these findings suggest may serve viable treatment option alleviating prostatitis-induced through neural desensitization, presenting promising therapeutic avenue patients

Language: Английский

Citations

0
Temporomandibular disorders and mental health: shared etiologies and treatment approaches DOI Creative Commons

Jiamin Wan,

Jiu Lin,

Tingfeng Zha

et al.

The Journal of Headache and Pain, Journal Year: 2025, Volume and Issue: 26(1)

Published: March 12, 2025

The biopsychosocial model suggests that temporomandibular disorders (TMDs) often coexist with mental health disorders, particularly depression and anxiety, affecting a significant portion of the global population. interplay between TMDs contributes to complex comorbidity, perpetuating cycle mutual influence reinforcement. This review investigates neurobiological mechanisms epidemiological evidence supporting shared etiology exploring potential vulnerabilities bidirectional causal relationships. Shared may stem from genetic epigenetic predispositions, psychosocial factors, behavioral aspects. Inflammatory cytokines, neurotransmitters, neurotrophins, neuropeptides play pivotal roles in both peripheral central sensitization as well neuroinflammation. Brain imaging studies suggest exhibit overlapping brain regions indicative reward processing deficits anomalies within triple network model. Future research efforts are crucial for developing comprehensive understanding underlying confirming reciprocal effects disorders. provides valuable insights oral healthcare professionals, stressing importance optimizing treatment strategies individuals dealing concurrent issues through personalized, holistic, multidisciplinary approach.

Language: Английский

Citations

0
The Effect of Rosacea on Neurodegenerative and Neuropsychiatric Diseases: A Two-Sample Mendelian Randomization Study DOI

Xiangjun Hu,

Dandan Shen,

Hong Cai

et al.

Published: Jan. 1, 2025

Objective: To investigate the potential causal relationships between rosacea and Parkinson's disease, Alzheimer's anxiety disorders, depression with MR analysis. Methods: Genetic data for four neurodegenerative neuropsychiatric disorders were obtained from GWAS databases. After completing stringent quality control procedures, SNPs meeting significance thresholds selected as IVs. Our primary statistical analysis was conducted by IVW approach. robustness of results, heterogeneity tests, sensitivity analyses, pleiotropy assessments conducted. Reverse analyses subsequently carried out to further substantiate relationships. Results: The present study discovered a positive correlation an elevated risk (OR = 1.0015, 95% CI 1.0002-1.0027, P 0.02). There is no evidence support connection or disorders. indicated associations these rosacea. Conclusion: findings reveal that individuals may have depression.

Language: Английский

Citations

0
The effect of rosacea on neurodegenerative and neuropsychiatric diseases: a two-sample Mendelian randomization study DOI Creative Commons

Xiangjun Hu,

Dandan Shen,

Hong Cai

et al.

Archives of Dermatological Research, Journal Year: 2025, Volume and Issue: 317(1)

Published: March 27, 2025

Language: Английский

Citations

0
Prozac exposure during adolescence increases heat pain sensitivity in adulthood DOI
Anapaula Themann, Minerva Rodriguez, David Calvo

et al.

Journal of Psychiatric Research, Journal Year: 2025, Volume and Issue: unknown

Published: April 1, 2025

Language: Английский

Citations

0
Recent advances in the synthesis of antidepressant derivatives: pharmacologic insights for mood disorders DOI
Jeetendra Kumar Gupta, Kuldeep Singh,

Alok Bhatt

et al.

3 Biotech, Journal Year: 2024, Volume and Issue: 14(11)

Published: Oct. 5, 2024

Language: Английский

Citations

2
Rare Variant Association Studies: Significance, Methods, and Applications in Chronic Pain Studies DOI Creative Commons

Sahel Jahangiri Esfahani,

Xiang Ao,

Anahita Oveisi

et al.

Osteoarthritis and Cartilage, Journal Year: 2024, Volume and Issue: unknown

Published: Dec. 1, 2024

Rare genetic variants, characterized by their low frequency in a population, have emerged as essential components the study of complex disease genetics. The biology rare variants underscores significance, they can exert profound effects on phenotypic variation and susceptibility. Recent advancements sequencing technologies yielded availability large-scale data such UK Biobank whole-exome (WES) cohort empowered researchers to conduct variant association studies (RVASs). This review paper discusses significance available methodologies, applications. We provide an overview studies, emphasizing relevance unraveling architecture diseases with special focus chronic pain Arthritis. Additionally, we discuss strengths limitations various testing methods, outlining typical pipeline for conducting association. encompasses crucial steps quality control WES data, annotation, testing. It serves comprehensive guide field interested datasets like cohort. Lastly, how identified be further investigated through detailed experimental animal models elucidate functional impact underlying mechanisms.

Language: Английский

Citations

0