Association of COMT, BDNF and 5-HTT functional polymorphisms with personality characteristics.

Background: The real impact of genetic factors on personality is still unknown, even if in literature about 50% of variance in personality traits are considered genetically determined. The determination of the genetic variance in personality traits could promote psychological well-being and the prevention of psychopathologies, because there are many experimental evidences showing that mental illness is associated to personality. Numerous studies have showed that Catechol-O-methyltransferase (COMT), brain derived neurotrophic factor (BDNF) and serotonin transporter (5-HTT) are genes whose variants are associated with personality traits. This aim of this study is the investigation of the association between personality traits and 5-HTTLPR/rs255315-HTT promoter variant, COMT Val158Met and BDNF Val66Met gene polymorphisms. Methods: The sample was composed by 132 healthy female students. Genomic DNA was extracted from buccal swab, while personality was assessed with Cloninger's Temperament and Character Inventory-Revised (TCI-R). Linear discriminant analysis was used to analyze how personality characteristics can differentiate individuals in relation to their genetic polymorphisms. Results: Data showed that the temperament trait Reward Dependence discriminated individuals with different BDNF variants; Novelty Seeking and Harm Avoidance discriminated individuals with different 5HTTLPR variants; Persistence discriminated individuals with different COMT variants. Conclusions: Since these traits are connected to psychological diseases as depression, social anxiety, anorexia and obsessive-compulsive disorders of personality, the study of their genetic component can be used as intermediary issue to better define the connection between genes and predisposition toward maladaptive behavior and mental illness

Physical Activity and Exercise Addiction During the Covid-19 Pandemic in Italy

© 2022, The Author(s). This article is licensed under a Creative Commons Attribution 4.0 International License, to view a copy of this licence, visit http://creativecommons.org/licenses/by/4.0/.Severe restrictive measures were implemented globally to limit the spread of the Covid-19 pandemic leading to significant lifestyle changes and impacting on both the physical and the mental health of citizens. Caught by the fear of getting sick, some individuals have adopted behaviors which favored the development of exercise addiction (EA). Our aim was to evaluate physical activity habits and the risk of EA in the general Italian population during phase 1 of the lockdown. The role of appearance anxiety (AA), self-compassion, and use of performance and image enhancing drugs (PIEDs) as predictors of EA development were investigated. A comparison between physically active subjects with the inactive ones was also included. Between April and May 2020, an online survey was conducted across Italy. Nine hundred thirty-six answers were collected. The rate of EA in the physically active sample (782 subjects) was 4.1%. The physically active group showed higher SCS scores and a greater use of PIEDs. Of the physically active participants, 84.2% reported variations in their fitness routine. Perceived benefit of exercising resulted significantly higher in those with EA. Subjects with EA reported stronger motivation in engaging in physical activity as for “physical wellness,” “psychological well-being,” and “sexual attractiveness and confidence in relationship.” A higher level of AA, a lower level of self-compassion, and a higher perceived benefit of exercising during lockdown were all significant predictors for the presence of EA. Our findings suggest that the fear of getting sick from Covid-19, combined with radical changes in the lifestyles induced by the lockdown and individual personological characteristics, can favor the development of EA and related phenomena in the general population.Peer reviewedFinal Published versio

Genome-wide Analyses Identify KIF5A as a Novel ALS Gene

To identify novel genes associated with ALS, we undertook two lines of investigation. We carried out a genome-wide association study comparing 20,806 ALS cases and 59,804 controls. Independently, we performed a rare variant burden analysis comparing 1,138 index familial ALS cases and 19,494 controls. Through both approaches, we identified kinesin family member 5A (KIF5A) as a novel gene associated with ALS. Interestingly, mutations predominantly in the N-terminal motor domain of KIF5A are causative for two neurodegenerative diseases: hereditary spastic paraplegia (SPG10) and Charcot-Marie-Tooth type 2 (CMT2). In contrast, ALS-associated mutations are primarily located at the C-terminal cargo-binding tail domain and patients harboring loss-of-function mutations displayed an extended survival relative to typical ALS cases. Taken together, these results broaden the phenotype spectrum resulting from mutations in KIF5A and strengthen the role of cytoskeletal defects in the pathogenesis of ALS.Peer reviewe

From Exercise to Cognitive Performance: Role of Irisin

The beneficial effects of exercise on the brain are well known. In general, exercise offers an effective way to improve cognitive function in all ages, particularly in the elderly, who are considered the most vulnerable to neurodegenerative disorders. In this regard, myokines, hormones secreted by muscle in response to exercise, have recently gained attention as beneficial mediators. Irisin is a novel exercise-induced myokine, that modulates several bodily processes, such as glucose homeostasis, and reduces systemic inflammation. Irisin is cleaved from fibronectin type III domain containing 5 (FNDC5), a transmembrane precursor protein expressed in muscle under the control of peroxisome proliferator-activated receptor-γ coactivator-1α (PGC-1α). The FNDC5/irisin system is also expressed in the hippocampus, where it stimulates the expression of the neurotrophin brain-derived neurotrophic factor in this area that is associated with learning and memory. In this review, we aimed to discuss the role of irisin as a key mediator of the beneficial effects of exercise on synaptic plasticity and memory in the elderly, suggesting its roles within the main promoters of the beneficial effects of exercise on the brain

Memory Training Program Decreases the Circulating Level of Cortisol and Pro-inflammatory Cytokines in Healthy Older Adults

Aging cognitive decline has been associated to impairment of the Hypothalamus Pituitary Adrenals (HPA) axis activity and a higher level of the systemic inflammation. However, little is known about the molecules driving this process at peripheral level. In addition, the cognitive function is to some extent modifiable with Memory Training (MT) programs, even among older adults and beyond. The study aims to evaluate whether MT could contribute to ameliorate cognitive performance and modulate the HPA axis activity as well the low level inflammation in the aging phenotype. Whether the phosphatase WIP-1, a negative regulator for inflammation, is involved in this process was also investigated. We recruited 31 young adults (19–28, years of age) and 62 older adults aged over 60. Thirty-two older adults were submitted to 6-months of MT program (EG), and 28 older adults were no treated and used as Control Group (CG). Global cognitive functioning (MMSE score), verbal and visual memory, and attention were assessed at baseline (T0) and after 6-months (T1). At the same time, plasmatic level of Cortisol (C), IL-1β, IL-18, IL-6, and the expression of WIP-1 mRNA and protein in ex vivo Peripheral Blood Mononuclear Cells were analyzed in young adults at T0, as well in older adults at T0 and T1. Together, the results suggest that MT improves the global cognitive functionality, verbal and visual memory, as well as the level of attention. At the same time we observed a decrease of the plasmatic level of C, of the cytokines, and an increase of the expression of mRNA and protein of WIP-1. The analysis of correlations highlighted that the level of the mRNA of WIP-1 was positively associated to the MMSE score, and negatively to the C and cytokine levels. In conclusion, we purpose the MT as tool that could help support successful aging through the improving of memory, attention and global cognitive function performance. Furthermore, this approach could participate to maintain lower the peripheral levels of the C and pro-inflammatory cytokines. The WIP-1 as a potential new target of the pathophysiology of aging is theorized