Biology subjects

DeLuca, V.

Publications and source records attributed to DeLuca, V..

3 recordsLinked to original sources

bioRxiv2022

Functional neural architecture of cognitive control mediates the relationship between individual differences in bilingual experience and behaviour

Bilinguals have often, but not always, been found to outperform monolinguals on domain-general attentional control. Inconsistent findings have been argued to stem, at least partly, from treating bilingualism as a uniform category and from not considering how neural adaptations to bilingual experiences modulate behavioural outcomes. The present study investigated how patterns of language experience, including language switching behaviour, duration and intensity/diversity of bilingual language use, influence the brain processes underlying cognitive control, and how these in turn translate to cognitive control performance. We examined reaction times and spectral dynamics of the electroencephalograms (EEG) of two-hundred-and-thirty-nine participants (about 70% bilinguals) with diverse language experiences during two cognitive control paradigms testing interference suppression (flanker and Simon task). Using structural equation modelling, we found that different bilingual experience factors were related with neurocognitive measures, which in turn were related with behavioural interference effects, for the flanker but not the Simon task. More specifically, increased frequency of language switching and intensity / diversity of bilingual language usage was negatively related to induced top-down control measures (especially midline-frontal theta), which in turn was beneficial for interference control. In contrast, duration of bilingual engagement correlated negatively with evoked bottom-up control measures (especially P3) and was therefore detrimental to interference control. We demonstrate here for the first time how the different factors of bilingual experience lead to different neural adaptations which impact behavioural outcomes. Significance statementLike other intensive experiences, bilingualism leads to brain adaptations. It results in structural changes in language areas, and, due to demands on language control, in brain areas associated with domain-general cognitive control. Related to this, bilinguals often outperform monolinguals on cognitive control tasks. But what is often ignored is that bilingualism is a multi-dimensional phenomenon, with variations such as diversity of language usage and duration of language use. The present large-scale study of neural functioning in bilingualism revealed for the first time how individual differences in bilingual experience lead to adaptations to brain functioning which in turn affect cognitive control behaviour. It exemplifies how the complexity of individual experiences plays a fundamental role in brain function.

neuroscience↗

bioRxiv2021

Brain structural correlates of autistic traits across the diagnostic divide: A grey matter and white matter microstructure study

Autism Spectrum Disorders (ASD) are a set of neurodevelopmental conditions characterised by difficulties in social interaction and communication as well as stereotyped and restricted patterns of interest. Autistic traits exist in a continuum across the general population, whilst the extreme end of this distribution is diagnosed as clinical ASD. While many studies have investigated brain structure in autism using a case-control design, few have used a dimensional approach. To add to this growing body of literature, we investigated the structural brain correlates of autistic traits in a mixed sample of adults (N=91) with and without a clinical diagnosis of autism. We examined regional brain volumes (using voxel-based morphometry and surface-based morphometry) and white matter microstructure properties (using Diffusion Tensor Imaging). Our findings show widespread grey matter differences, including in the social brain regions, and some evidence for white matter microstructure differences related to higher autistic traits. These grey matter and white matter microstructure findings from our study are consistent with previous reports and support the brain structural differences in ASD. These findings provide further support for shared aetiology for autistic traits across the diagnostic divide.

neuroscience↗

bioRxiv2017

Somatic inactivating PTPRJ mutations and dysregulated pathways identified in canine melanoma by integrated comparative genomic analysis

Canine malignant melanoma, a significant cause of mortality in domestic dogs, is a powerful comparative model for human melanoma, but little is known about its genetic etiology. We mapped the genomic landscape of canine melanoma through multi-platform analysis of 37 tumors (31 mucosal, 3 acral, 2 cutaneous, and 1 uveal) and 17 matching constitutional samples including long- and short-insert whole genome sequencing, RNA sequencing, array comparative genomic hybridization, single nucleotide polymorphism array, and targeted Sanger sequencing analyses. We identified novel predominantly truncating mutations in the putative tumor suppressor gene PTPRJ in 19% of cases. No BRAF mutations were detected, but activating RAS mutations (24% of cases) occurred in conserved hotspots in all cutaneous and acral and 13% of mucosal subtypes. MDM2 amplifications (24%) and TP53 mutations (19%) were mutually exclusive. Additional low-frequency recurrent alterations were observed amidst low point mutation rates, an absence of ultraviolet light mutational signatures, and an abundance of copy number and structural alterations. Mutations that modulate cell proliferation and cell cycle control were common and highlight therapeutic axes such as MEK and MDM2 inhibition. This mutational landscape resembles that seen in BRAF wild-type and sun-shielded human melanoma subtypes. Overall, these data inform biological comparisons between canine and human melanoma while suggesting actionable targets in both species.\n\nAUTHOR SUMMARYMelanoma, an aggressive cancer arising from transformed melanocytes, commonly occurs in pet dogs. Unlike human melanoma, which most often occurs in sun-exposed cutaneous skin, canine melanoma typically arises in sun-shielded oral mucosa. Clinical features of canine melanoma resemble those of human melanoma, particularly the less common sun-shielded human subtypes. However, whereas the genomic basis of diverse human melanoma subtypes is well understood, canine melanoma genomics remain poorly defined. Similarly, although diverse new treatments for human melanoma based on a biologic disease understanding have recently shown dramatic improvements in outcomes for these patients, treatments for canine melanoma are limited and outcomes remain universally poor. Detailing the genomic basis of canine melanoma thus provides untapped potential for improving the lives of pet dogs while also helping to establish canine melanoma as a comparative model system for informing human melanoma biology and treatment. In order to better define the genomic landscape of canine melanoma, we performed multi-platform characterization of 37 tumors. Our integrated analysis confirms that these tumors commonly contain mutations in canine orthologs of human cancer genes such as RAS, MDM2, and TP53 as well mutational patterns that share important similarities with human melanoma subtypes. We have also found a new putative cancer gene, PTPRJ, frequently mutated in canine melanoma. These data will guide additional biologic and therapeutic studies in canine melanoma while framing the utility of comparative studies of canine and human cancers more broadly.

cancer biology↗