Scientific Reports, Journal Year: 2024, Volume and Issue: 14(1)
Published: Dec. 30, 2024
Language: Английский
JAMA Psychiatry, Journal Year: 2025, Volume and Issue: 82(3), P. 285 - 285
Published: Jan. 8, 2025
Importance As an accessible part of the central nervous system, retina provides a unique window to study pathophysiological mechanisms brain disorders in humans. Imaging and electrophysiological studies have revealed retinal alterations across several neuropsychiatric neurological disorders, but it remains largely unclear which specific cell types biological are involved. Objective To determine whether affected by genomic risk for explore through converges these types. Design, Setting, Participants This genetic association combined findings from genome-wide schizophrenia, bipolar disorder, major depressive multiple sclerosis, Parkinson disease, Alzheimer stroke with single-cell transcriptomic datasets humans, macaques, mice. identify susceptible types, Multi-Marker Analysis Genomic Annotation (MAGMA) cell-type enrichment analyses were applied subsequent pathway performed. The cellular top hits translated structural level using optical coherence tomography (acquired between 2009 2010) genotyping data large population-based UK Biobank cohort study. Data analysis was conducted 2022 2024. Main Outcomes Measures Cell type–specific loading disorder traits gene expression profiles cells. Results Expression amacrine cells (interneurons within retina) robustly enriched schizophrenia mammalian species different developmental stages. primarily driven genes involved synapse biology. Moreover, immune populations sclerosis risk. No consistent associations found or stroke. On level, higher polygenic associated thinning ganglion inner plexiform layer, contains dendrites synaptic connections (B, −0.09; 95% CI, −0.16 −0.03; P = .007; n 36 349; mean [SD] age, 57.50 [8.00] years; 19 859 female [54.63%]). Higher increased thickness nerve fiber layer 0.06; 0.02 0.10; 371; 57.51 843 [54.56%]). Conclusions Relevance novel insights into underpinnings highlights as potential proxy pathology schizophrenia.
Language: Английский
Citations
0
medRxiv (Cold Spring Harbor Laboratory), Journal Year: 2025, Volume and Issue: unknown
Published: Feb. 13, 2025
The visual system is a significant site of pathology in psychosis spectrum disorders. However, there limited research investigating human cortex (VC) subregions this population. Using data from the Bipolar-Schizophrenia Network on Intermediate Phenotypes Consortium (BSNIP-1, BSNIP-2, PARDIP), study examined structural measures VC individuals with Cortical surface area and thickness five (hOc1, hOc2, hOc3v, hOc4v, MT) were quantified using FreeSurfer v7.1.0 compared between ( n =1211) healthy controls =734). Regional specificity was by controlling for total or mean cortical thickness. ComBat used to harmonize scanner effects. Associations symptom severity, cognition, childhood trauma scores assessed. Individuals demonstrated smaller hOc1, lower all controls. Thickness reductions MT regionally specific. hOc4v among top three regions exhibiting most robust deficits d = -0.38 -0.40) across Desikan-Killiany brain regions. Lower mid-level associated greater positive symptoms, poorer higher scores. This demonstrates that profoundly affected psychotic Different patterns changes early subregions, along their varying associations clinical measures, suggest distinct developmental disease-related influences.
Language: Английский
Citations
0
medRxiv (Cold Spring Harbor Laboratory), Journal Year: 2024, Volume and Issue: unknown
Published: June 13, 2024
Abstract Objective Several studies have found thinner retinal tissue in mental disorders compared to healthy controls. Because the retina is part of human brain, this suggests that informative brain structure readouts can be obtained efficiently through imaging. Instead focusing on group-level case-control differences, we used normative modeling estimate age-related decline (and its expected variation) and it seen schizophrenia (SZ), bipolar disorder (BD), major depression (MDD). We hypothesized accelerated controls, with SZ being most affected, followed by BD, then MDD. Methods Using UK Biobank data, estimated controls (HC, N = 56,545) for total macular thickness (including coronal subfields) two sublayers (retinal nerve fiber layer; RNFL; ganglion cell-inner plexiform GC-IPL). (N 171), BD 256), MDD 102) HC. Results For HC, pattern thickness, RNFL, GC-IPL was curve-like rather than linear more pronounced males females. disorders, decline-pattern generally faster, driven disorder-specific subfields. There also an enrichment individuals extremely low (infranormal) values. These results were confirmed robustness checks ruled out unspecific confounders. Conclusion findings suggest particularly SZ, involve neurodegenerative detected retina.
Language: Английский
Citations
3
European Archives of Psychiatry and Clinical Neuroscience, Journal Year: 2024, Volume and Issue: unknown
Published: Dec. 8, 2024
Language: Английский
Citations
2
Schizophrenia Bulletin, Journal Year: 2024, Volume and Issue: unknown
Published: Oct. 12, 2024
Abnormalities in the retina are observed psychotic disorders, especially schizophrenia.
Language: Английский
Citations
1
bioRxiv (Cold Spring Harbor Laboratory), Journal Year: 2024, Volume and Issue: unknown
Published: Aug. 12, 2024
Importance: As an accessible part of the central nervous system, retina provides a unique window to study pathophysiological mechanisms brain disorders in humans. Imaging and electrophysiological studies have revealed retinal alterations across several neuropsychiatric neurological disorders. However, it remains largely unclear whether primary disease within contribute observed which specific cell types biological are involved. Objective: To determine affected by genomic risk for explore through converges these types. Design, Setting, Participants: In this study, we combined findings from genome-wide association schizophrenia, bipolar disorder, major depressive multiple sclerosis, Parkinson disease, Alzheimer stroke with single-cell transcriptomic data sets humans, macaques, mice. identify susceptible types, applied MAGMA type enrichment analyses performed subsequent pathway analyses. Furthermore, translated cellular top hit structural level using optical coherence tomography genotyping large population-based UK Biobank cohort (n = 36,349). Main Outcomes Measures: Cell type-specific genetic loading disorder traits gene expression profiles cells. Results: Amacrine cells (interneurons retina) were robustly enriched schizophrenia mammalian species different developmental stages. This was primarily driven genes involved synapse biology. On level, higher polygenic associated thinning ganglion cell-inner plexiform layer, contains dendrites synaptic connections amacrine Moreover, immune populations sclerosis risk. No consistent associations found or stroke. Conclusions Relevance: novel insights into underpinnings highlights as potential proxy pathology schizophrenia.
Language: Английский
Citations
0
Schizophrenia Research, Journal Year: 2024, Volume and Issue: 274, P. 137 - 141
Published: Sept. 17, 2024
Language: Английский
Citations
0
Biological Psychiatry, Journal Year: 2024, Volume and Issue: 96(10), P. 769 - 771
Published: Oct. 14, 2024
Language: Английский
Citations
0
medRxiv (Cold Spring Harbor Laboratory), Journal Year: 2024, Volume and Issue: unknown
Published: Nov. 8, 2024
Abstract The identification of structural retinal layer differences between patients diagnosed with certain psychiatric disorders and healthy controls has provided a potentially promising route to the biomarkers for these disorders. Optical coherence tomography been used study whether exist in schizophrenia spectrum (SSD), bipolar disorder (BPD), major depressive (MDD), obsessive-compulsive (OCD), attention deficit hyperactivity (ADHD), alcohol opiate use However, there is considerable variation amount available evidence relating each heterogeneity results obtained. We conducted first systematic review meta-analysis across all which data was available. quality graded key confounding variables were accounted for. Of 381 screened articles, 87 included. very low moderate quality. Meta-analyses revealed that compared controls, peripapillary nerve fiber (pRNFL) significantly thinner SSD (SMD = -0.32; p<0.001), BPD -0.4; OCD -0.26; p=0.041), ADHD -0.48; p=0.033). Macular thickness only less -0.59; p<0.001). pRNFL quadrant analyses reduced most prominent superior inferior quadrants. subfield indicated may have region-specific effects on thickness. In conclusion, findings suggest substantial BPD, reinforcing their potential as clinical settings.
Language: Английский
Citations
0
Neuropsychobiology, Journal Year: 2024, Volume and Issue: unknown, P. 1 - 23
Published: Dec. 24, 2024
Background: Bipolar disorder (BD) is a psychiatric condition with significant health implications due to its comorbidities, premature mortality, and functional impairments. Despite extensive research on treatment rehabilitation, gaps remain in diagnosis monitoring. Therefore, there need for biomarkers identify individuals at risk disease progression or excacerbation. Developmentally part of the central nervous system, retina represents possible marker observing BD-related structural alterations brain. Summary: The retina's structure can be assessed through optical coherence tomography (OCT), non-invasive cost-effective method. Retinal alterations, particularly retinal nerve fiber layer (RNFL) ganglion cell (GCL), have been associated neurodegenerative disorders cross-sectional OCT studies. This scoping review discusses findings changes BD as well their association characteristics like symptom severity illness duration, highlights potential diagnostic tool treatment. Key Findings: majority studies indicate RNFL GCL thinning patients, which was found correlate clinical some Although data currently limited, possibility that could facilitate monitoring BD, but more needs conducted observe relationship between these parameters BD. Moreover, other factors (e.g., treatment, metabolic inflammatory conditions) may impact changes, longitudinal clarify relationships. Further should focus replicating current findings, understanding role inflammation, differentiating regions affected by
Language: Английский
Citations
0