Knowledge-Based Prioritization of Genomic Variations: A Quest for Detailed Understanding the Genetic Architecture of Diseases DOI Open Access
Ivan Y. Iourov

Опубликована: Окт. 2, 2023

Understanding the genetic architecture of a disease is crucial for development valid diagnostic and therapeutic interventions. The analysis genomic variations associated with pathological conditions starting point uncovering disease-causing pathways (candidate processes). However, complexity intergenic genetic-environmental interactions hinders identification pathogenic values changes. Furthermore, heredity, epigenetics somatic mosaicism make interpretation data even more sophisticated. To succeed, variety bioinformatic techniques are applied. Here, reviewing own literature data, knowledge-based prioritization described. Theoretical basis given special regard to gene ontology, heuristics, hermeneutics (genomic hermeneutics) analytics. Practical methodological issues using ontology- or pathway-based systems considered in light optimistic realistic scenarios cumulative phenotypic effects variome (the whole set an individual specific outcome). In present communication, copy number variants (CNVs) children neurodevelopmental diseases used as practical foundation prioritization, inasmuch these genome systematically overlooked so-called NGS era. Nonetheless, it highly likely that applicable almost all types (e.g. chromosome abnormalities, mutations, functional synonymous etc.). methodology seems be valuable addition current biomedical science widening opportunities medical genomics genetics.

Язык: Английский

Immunophenotypes in psychosis: is it a premature inflamm-aging disorder? DOI Creative Commons
Song Chen, Yunlong Tan, Li Tian

и другие.

Molecular Psychiatry, Год журнала: 2024, Номер 29(9), С. 2834 - 2848

Опубликована: Март 26, 2024

Immunopsychiatric field has rapidly accumulated evidence demonstrating the involvement of both innate and adaptive immune components in psychotic disorders such as schizophrenia. Nevertheless, researchers are facing dilemmas discrepant findings immunophenotypes outside inside brains patients, discovered by recent meta-analyses. These discrepancies make interpretations interrogations on their roles psychosis remain vague even controversial, regarding whether certain cells more activated or less so, they causal consequential, beneficial harmful for psychosis. Addressing these issues is not at all trivial, either brain an enormously heterogeneous plastic cell population, falling into a vast range lineages subgroups, functioning differently malleably context-dependent manners. This review aims to overview currently known patients with psychosis, provocatively suggest premature "burnout" inflamm-aging initiated since organ development potential primary mechanism behind pathogenesis disorders.

Язык: Английский

Процитировано

9

Neuroinflammatory Loop in Schizophrenia, Is There a Relationship with Symptoms or Cognition Decline? DOI Open Access
Claudio Carril Pardo, Karina Oyarce, América Vera-Montecinos

и другие.

International Journal of Molecular Sciences, Год журнала: 2025, Номер 26(1), С. 310 - 310

Опубликована: Янв. 1, 2025

Schizophrenia (SZ), a complex psychiatric disorder of neurodevelopment, is characterised by range symptoms, including hallucinations, delusions, social isolation and cognitive deterioration. One the hypotheses that underlie SZ related to inflammatory events which could be partly responsible for symptoms. However, it unknown how molecules can contribute decline in SZ. This review summarises exposes possible contribution imbalance between pro-inflammatory anti-inflammatory interleukins like IL-1beta, IL-4 TNFalfa among others on impairment. We discuss this affects microglia astrocytes inducing disruption blood–brain barrier (BBB) SZ, impact prefrontal cortex or associative areas involved executive functions such as planning working tasks. also highlight generated intestinal microbiota alterations, due dysfunctional microbial colonisers use some anti-psychotics, central nervous system. Finally, question arises whether modulate correct characterises if an immunomodulatory strategy incorporated into conventional clinical treatments, either alone complement, applied specific phases, prodromal first-episode psychosis.

Язык: Английский

Процитировано

1

Implications of cytokine genes polymorphisms in Jordanian patients with obsessive compulsive disorder DOI Creative Commons
Ahmad M. Khalil,

Manal W. Khrais,

Khaled M. Al-Qaoud

и другие.

Egyptian Journal of Medical Human Genetics, Год журнала: 2025, Номер 26(1)

Опубликована: Янв. 14, 2025

Abstract Background Obsessive–compulsive disorder (OCD) is a common and often highly debilitating chronic neuropsychiatric condition. There substantial evidence that immune system genetic changes are involved in OCD pathogenesis. Only few studies have been encountered the literature this field. We aimed at providing experimental for single nucleotide polymorphisms (SNPs) candidate cytokine genes etiology of OCD. Methods A total 52 patients 54 healthy controls were randomly recruited from Jordanian population. Age ranged between 16 55 years (35.5 ± 13.72 33.5 10.48 years) controls, respectively. Five polymorphic positions four interleukin (IL-1β; rs16944 rs1143634, IL-6; rs1800795, IL-10; rs1800896 rs1800795) genotyped using polymerase chain reaction–restriction fragment length polymorphism (PCR–RFLP) method. The tumor necrosis factor-α (TNF-α) SNP (rs1800629) DNA was sequenced by Sanger obtained data analyzed GraphPad Prism Results no statistically significant differences alleles genotypes opposite groups. However, there positive association incidence studied non-OCD individuals. two SNPs (IL-1β + 3954 C > T TNF-α-308 G A) more predominant positively correlated with higher risk women. In contrast, link gender occurrence mutant other IL-1β (− 511 T); IL-6 174 C); IL-10 1082 G); 819 robust males than corresponding females. Conclusion observed different groups may be due to an tested samples rather true association. But, possibility critical effect still exists. One might want explore further repeating study larger sample size.

Язык: Английский

Процитировано

0

Exploring the Potential of Precision Medicine in Neuropsychiatry: A Commentary on New Insights for Tailored Treatments Based on Genetic, Environmental, and Lifestyle Factors DOI Open Access
Jelena Milić, Milica Vučurović, Dragana Jović

и другие.

Genes, Год журнала: 2025, Номер 16(4), С. 371 - 371

Опубликована: Март 24, 2025

Neuropsychiatric disorders are complex conditions with multifactorial etiologies, in which genetics play a pivotal role. Despite significant advancements psychiatric research, traditional treatment options remain largely symptomatic, focusing on clinical signs without fully addressing the underlying biological causes. However, recent developments precision medicine—an approach that tailors treatments based genetic, environmental, and lifestyle factors—hold great promise for transforming of these disorders. By identifying specific genetic markers understanding gene–environment interactions, medicine can offer more personalized effective treatments, leading to better patient outcomes. Our primary aim was explore how integrating data environmental factors could enhance neuropsychiatric such as schizophrenia, bipolar disorder, depression. The secondary examine potential pharmacogenomics gene therapy improving therapeutic strategies. results indicate while progress has been made, challenges remain, including complexity interactions need granular phenotypic data. In conclusion, revolutionize by providing individualized care considers makeup, influences, factors, paving way therapies improved

Язык: Английский

Процитировано

0

How variants in inflammatory mediator genes influence symptom severity of psychiatric disorders: Findings from the PsyCourse Study DOI
Mojtaba Oraki Kohshour, Kristina Adorjan, Monika Budde

и другие.

Psychiatry Research, Год журнала: 2025, Номер 348, С. 116492 - 116492

Опубликована: Апрель 11, 2025

Язык: Английский

Процитировано

0

Navigating the Complex Terrain of Dysregulated Microglial Function in Depressive Disorders: Insights, Challenges and Future Directions DOI Creative Commons

Yuling Zhang,

Chaozhi Tang

Aging and Disease, Год журнала: 2024, Номер unknown

Опубликована: Янв. 1, 2024

Microglia are crucial immune cells found in the central nervous system. Multiple investigations have substantiated correlation between development of depression and neuroinflammation resulting from impaired microglial activity. Through extensive research on phenotype, function, imaging technology, multi-omics analysis, vitro culture microglia depressive disorder, understanding relationship has become more intricate. Various therapeutic approaches been suggested, but a thorough analysis obstacles to clinical application not conducted. This paper explores innovative advancement detection recent findings identification epigenetic modification, variability different conditions, dysfunction onset depression, progress challenges microglia-targeted therapy for current future prospects studying dysregulated function disorders.

Язык: Английский

Процитировано

1

Association between 15 Insertion/Deletion Polymorphisms and the Risk of Type 1 Bipolar Disorder DOI Creative Commons

Fatemeh Zebarjad,

Mostafa Saadat

Gene Expression, Год журнала: 2024, Номер 000(000), С. 000 - 000

Опубликована: Июль 5, 2024

Background and objectivesType 1 bipolar disorder (BP) is a mental illness characterized by extreme shifts in mood, oscillating between manic depressive episodes. It ranks as the sixth most prevalent psychiatric globally, often emerging teenage years. This study aimed to identify associations BP 15 insertion/deletion (Indel) polymorphisms human genome, examining genes including TPA, UCP2, HLA-G, FADS2, ADRA2B, VEGF, PDCD6IP, SLC6A4, TLR2, APOB, TP53, LRPAP1, DHFR, MDM2, DBH.

Язык: Английский

Процитировано

1

Greater methylation of the IL-6 promoter region is associated with decreased integrity of the corpus callosum in schizophrenia DOI
Anna Michalczyk, Ernest Tyburski, Piotr Podwalski

и другие.

Journal of Psychiatric Research, Год журнала: 2024, Номер 175, С. 108 - 117

Опубликована: Май 4, 2024

Язык: Английский

Процитировано

0

Дискуссионные аспекты суицидологии: связь нейровоспаления с суицидальным поведением у психически здоровых людей. Сообщение I DOI Open Access
В.А. Козлов, А.В. Голенков, П.Б. Зотов

и другие.

Суицидология, Год журнала: 2024, Номер 15(01(54))

Опубликована: Апрель 17, 2024

Язык: Русский

Процитировано

0

Codes between Poles: Linking Transcriptomic Insights into the Neurobiology of Bipolar Disorder DOI Creative Commons
Jon Patrick T. Garcia, Lemmuel L. Tayo

Biology, Год журнала: 2024, Номер 13(10), С. 787 - 787

Опубликована: Сен. 30, 2024

Bipolar disorder (BPD) is a serious psychiatric condition that characterized by the frequent shifting of mood patterns, ranging from manic to depressive episodes. Although there are already treatment strategies aim at regulating manifestations this disorder, its etiology remains unclear and continues be question interest within scientific community. The development RNA sequencing techniques has provided newer better approaches studying disorders transcriptomic level. Hence, using RNA-seq data, we employed intramodular connectivity analysis network pharmacology assessment disease-associated variants elucidate biological pathways underlying complex nature BPD. This study was intended characterize expression profiles obtained three regions in brain, which nucleus accumbens (nAcc), anterior cingulate cortex (AnCg), dorsolateral prefrontal (DLPFC), provide insights into specific roles these onset present potential targets for drug design development. nAcc found highly associated with genes responsible deregulated transcription neurotransmitters, while DLPFC greatly correlated involved impairment components crucial neurotransmission. AnCg did show association some expressions, but relationship not as strong other two regions. Furthermore, or single nucleotide polymorphisms (SNPs) were identified among significant BPD, suggests genetic interrelatedness such mental illnesses. DRD2, GFRA2, DCBLD1 expressed nAcc; ST8SIA2 ADAMTS16 AnCg; FOXO3, ITGA9, CUBN, PLCB4, RORB DLPFC. Aside unraveling molecular cellular mechanisms behind investigation envisioned propose new research pipeline transcriptome support improve existing studies.

Язык: Английский

Процитировано

0