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Brueckl, T. M.

Publications and source records attributed to Brueckl, T. M..

2 recordsLinked to original sources

Integrative Gene and Isoform Co-expression Networks Reveal Regulatory Rewiring in Stress-related Psychiatric Disorders

Isoform-specific expression patterns have been implicated in stress-related psychiatric disorders like major depressive disorder (MDD), yet the extent of their involvement and their interrelationships remain unclear. We constructed co-expression networks for individuals affected (n=210, 81% with depressive symptoms) and unaffected (n=95) by stress-related psychiatric disorders. We incorporated total gene expression (TE) and isoform ratio (IR) data and validated the inferred networks using advanced graph generation techniques. Our analysis revealed distinct network topology and structure between the two groups. Investigation of the 127 shared hubs (degree >= 10) found that these hubs exhibit co-regulatory patterns unique to each network. The affected individuals network also contained 61 hub nodes with a minimum absolute fold increase of two in connectivity compared to the unaffected individuals network. Notably, 49% of these hubs showed evidence for association with psychiatric disorders. Gene Ontology enrichment analysis revealed distinct biological processes associated with hubs, such as mRNA processing for affected and immune response and cell adhesion for unaffected individuals. Enrichment analysis of GWAS loci further supported network-specific findings. Analysis of the isoform-specific nodes showed distinct protein-protein interactions compared to gene-level analysis. This is the first study to demonstrate network-level differences in gene and isoform co-expression patterns between individuals with and without stress-related psychiatric disorders, with a particular focus on depressive symptoms. Our findings provide evidence for substantial rewiring of gene regulatory networks in affected individuals. Incorporating isoform-level data revealed a deeper level of complexity, highlighting the importance of considering isoform variations in understanding the molecular basis of these conditions.

systems biology↗

Huntingtin CAG repeat size variations outside the Huntington's disease complex: associations with depression and anxiety phenotypes and basal ganglia structure

Huntingtons Disease (HD) is strongly associated with psychiatric symptoms, yet, associations between Huntingtin gene (HTT) CAG repeat size variations and psychiatric phenotypes outside the HD complex are still under-investigated. In this genetic case-control study we compared the distribution of HTT CAG repeat sizes in predefined ranges between patients with major depressive disorder (MDD) (n=2136) and anxiety disorders (ANX) (n=493), and healthy controls (CON) (n=1566). We used regression models to study interactions between the alleles and associations with fine-granular clinical phenotypes and basal ganglia structure. HD mutations in the range of incomplete penetrance (36-39 repeats) were not overrepresented in patients. In participants older than 48 years, 13-20 repeats on both HTT alleles were associated with a reduced ANX risk whereas a 13-20|21-26 combination was associated with an increased ANX risk. Post-hoc analyses confirmed a turning point around 21 repeats and trends in the same direction were detected for MDD. The joint patient|CON analysis of the full spectrum of allele combinations confirmed interaction effects and age-dependent allele|risk profiles. A short-by-long interaction effect and an age-dependent negative correlation of the short allele on the nucleus accumbens volume was detected, independently of the diagnostic group. In conclusion, we revealed that HTT CAG repeat sizes of both alleles in the non-HD range modulate the susceptibility for common psychiatric disorders and basal ganglia structure in an age-dependent way, displaying that normal variation of the functionally diverse wildtype huntingtin protein may already impact brain function.

genetics↗