scholarly journals The impact of CACNA1C allelic variation on effective connectivity during emotional processing in bipolar disorder

2012 ◽  
Vol 18 (5) ◽  
pp. 526-527 ◽  
Author(s):  
J Radua ◽  
S A Surguladze ◽  
N Marshall ◽  
M Walshe ◽  
E Bramon ◽  
...  
2010 ◽  
Vol 41 (4) ◽  
pp. 779-788 ◽  
Author(s):  
G. Lelli-Chiesa ◽  
M. J. Kempton ◽  
J. Jogia ◽  
R. Tatarelli ◽  
P. Girardi ◽  
...  

BackgroundThe Met allele of the catechol-O-methyltransferase (COMT) valine-to-methionine (Val158Met) polymorphism is known to affect dopamine-dependent affective regulation within amygdala–prefrontal cortical (PFC) networks. It is also thought to increase the risk of a number of disorders characterized by affective morbidity including bipolar disorder (BD), major depressive disorder (MDD) and anxiety disorders. The disease risk conferred is small, suggesting that this polymorphism represents a modifier locus. Therefore our aim was to investigate how the COMT Val158Met may contribute to phenotypic variation in clinical diagnosis using sad facial affect processing as a probe for its neural action.MethodWe employed functional magnetic resonance imaging to measure activation in the amygdala, ventromedial PFC (vmPFC) and ventrolateral PFC (vlPFC) during sad facial affect processing in family members with BD (n=40), MDD and anxiety disorders (n=22) or no psychiatric diagnosis (n=25) and 50 healthy controls.ResultsIrrespective of clinical phenotype, the Val158 allele was associated with greater amygdala activation and the Met158 allele with greater signal change in the vmPFC and vlPFC. Signal changes in the amygdala and vmPFC were not associated with disease expression. However, in the right vlPFC the Met158 allele was associated with greater activation in all family members with affective morbidity compared with relatives without a psychiatric diagnosis and healthy controls.ConclusionsOur results suggest that the COMT Val158Met polymorphism has a pleiotropic effect within the neural networks subserving emotional processing. Furthermore the Met158 allele further reduces cortical efficiency in the vlPFC in individuals with affective morbidity.


2019 ◽  
Vol 29 ◽  
pp. S1173-S1174
Author(s):  
James Crowley ◽  
Ashley Nordsletten ◽  
Gustaf Brander ◽  
Patrick Sullivan ◽  
Naomi Wray ◽  
...  

2021 ◽  
pp. 000486742199879
Author(s):  
Pavitra Aran ◽  
Andrew J Lewis ◽  
Stuart J Watson ◽  
Thinh Nguyen ◽  
Megan Galbally

Objective: Poorer mother–infant interaction quality has been identified among women with major depression; however, there is a dearth of research examining the impact of bipolar disorder. This study sought to compare mother–infant emotional availability at 6 months postpartum among women with perinatal major depressive disorder, bipolar disorder and no disorder (control). Methods: Data were obtained for 127 mother–infant dyads from an Australian pregnancy cohort. The Structured Clinical Interview for the DSM-5 was used to diagnose major depressive disorder ( n = 60) and bipolar disorder ( n = 12) in early pregnancy (less than 20 weeks) and review diagnosis at 6 months postpartum. Prenatal and postnatal depressive symptoms were measured using the Edinburgh Postnatal Depression Scale, along with self-report psychotropic medication use. Mother and infant’s interaction quality was measured using the Emotional Availability Scales when infants reached 6 months of age. Multivariate analyses of covariance examining the effects of major depressive disorder and bipolar disorder on maternal emotional availability (sensitivity, structuring, non-intrusiveness, non-hostility) and child emotional availability (responsiveness, involvement) were conducted. Results: After controlling for maternal age and postpartum depressive symptoms, perinatal disorder (major depressive disorder, bipolar disorder) accounted for 17% of the variance in maternal and child emotional availability combined. Compared to women with major depressive disorder and their infants, women with bipolar disorder and their infants displayed lower ratings across all maternal and child emotional availability qualities, with the greatest mean difference seen in non-intrusiveness scores. Conclusions: Findings suggest that perinatal bipolar disorder may be associated with additional risk, beyond major depressive disorder alone, to a mother and her offspring’s emotional availability at 6 months postpartum, particularly in maternal intrusiveness.


2018 ◽  
Vol 79 (1) ◽  
pp. 63-70 ◽  
Author(s):  
Eva Z. Reininghaus ◽  
Lisa-Christin Wetzlmair ◽  
Frederike T. Fellendorf ◽  
Martina Platzer ◽  
Robert Queissner ◽  
...  

Genetics ◽  
2009 ◽  
Vol 183 (3) ◽  
pp. 853-860 ◽  
Author(s):  
Leila Feiz ◽  
Brian S. Beecher ◽  
John M. Martin ◽  
Michael J. Giroux

In planta analysis of protein function in a crop plant could lead to improvements in understanding protein structure/function relationships as well as selective agronomic or end product quality improvements. The requirements for successful in planta analysis are a high mutation rate, an efficient screening method, and a trait with high heritability. Two ideal targets for functional analysis are the Puroindoline a and Puroindoline b (Pina and Pinb, respectively) genes, which together compose the wheat (Triticum aestivum L.) Ha locus that controls grain texture and many wheat end-use properties. Puroindolines (PINs) together impart soft texture, and mutations in either PIN result in hard seed texture. Studies of the PINs' mode of action are limited by low allelic variation. To create new Pin alleles and identify critical function-determining regions, Pin point mutations were created in planta via EMS treatment of a soft wheat. Grain hardness of 46 unique PIN missense alleles was then measured using segregating F2:F3 populations. The impact of individual missense alleles upon PIN function, as measured by grain hardness, ranged from neutral (74%) to intermediate to function abolishing. The percentage of function-abolishing mutations among mutations occurring in both PINA and PINB was higher for PINB, indicating that PINB is more critical to overall Ha function. This is contrary to expectations in that PINB is not as well conserved as PINA. All function-abolishing mutations resulted from structure-disrupting mutations or from missense mutations occurring near the Tryptophan-rich region. This study demonstrates the feasibility of in planta functional analysis of wheat proteins and that the Tryptophan-rich region is the most important region of both PINA and PINB.


2018 ◽  
Vol 9 ◽  
Author(s):  
Henry W. Chase ◽  
Jay C. Fournier ◽  
Haris Aslam ◽  
Richelle Stiffler ◽  
Jorge R. Almeida ◽  
...  

Genes ◽  
2021 ◽  
Vol 12 (8) ◽  
pp. 1259
Author(s):  
Gerard Anmella ◽  
Silvia Vilches ◽  
Jordi Espadaler ◽  
Andrea Murru ◽  
Isabella Pacchiarotti ◽  
...  

Several pharmacogenetic-based decision support tools for psychoactive medication selection are available. However, the scientific evidence of the gene-drug pairs analyzed is mainly based on pharmacogenetic studies in patients with major depression or schizophrenia, and their clinical utility is mostly assessed in major depression. This study aimed at evaluating the impact of individual genes, with pharmacogenetic relevance in other psychiatric conditions, in the response to treatment in bipolar depression. Seventy-six patients diagnosed with bipolar disorder and an index major depressive episode were included in an observational retrospective study. Sociodemographic and clinical data were collected, and all patients were genotyped using a commercial multigene pharmacogenomic-based tool (Neuropharmagen®, AB-Biotics S.A., Barcelona, Spain). Multiple linear regression was used to identify pharmacogenetic and clinical predictors of efficacy and tolerability of medications. The pharmacogenetic variables response to serotonin-norepinephrine reuptake inhibitors (SNRIs) (ABCB1) and reduced metabolism of quetiapine (CYP3A4) predicted patient response to these medications, respectively. ABCB1 was also linked to the tolerability of SNRIs. An mTOR-related multigenic predictor was also associated with a lower number of adverse effects when including switch and autolytical ideation. Our results suggest that the predictors identified could be useful to guide the pharmacological treatment in bipolar disorder. Additional clinical studies are necessary to confirm these findings.


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