ORELLANA VILLENA, VIVIANA PAULINA

Preferred name
ORELLANA VILLENA, VIVIANA PAULINA
Main Affiliation
Email
vorellana@udd.cl
ORCID
0000-0003-0686-3432
Scopus Author ID
57207307195

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    The first genome‐wide association study in the Argentinian and Chilean populations identifies shared genetics with Europeans in Alzheimer's disease
    (2023)
    Maria Carolina Dalmasso
    ;
    Itziar de Rojas
    ;
    Natividad Olivar
    ;
    Carolina Muchnik
    ;
    Bárbara Angel
    <jats:title>Abstract</jats:title><jats:sec><jats:title>INTRODUCTION</jats:title><jats:p>Genome‐wide association studies (GWAS) are fundamental for identifying loci associated with diseases. However, they require replication in other ethnicities.</jats:p></jats:sec><jats:sec><jats:title>METHODS</jats:title><jats:p>We performed GWAS on sporadic Alzheimer's disease (AD) including 539 patients and 854 controls from Argentina and Chile. We combined our results with those from the European Alzheimer and Dementia Biobank (EADB) in a meta‐analysis and tested their genetic risk score (GRS) performance in this admixed population.</jats:p></jats:sec><jats:sec><jats:title>RESULTS</jats:title><jats:p>We detected apolipoprotein E ε4 as the single genome‐wide significant signal (odds ratio  = 2.93 [2.37–3.63], <jats:italic>P</jats:italic> = 2.6 × 10<jats:sup>−23</jats:sup>). The meta‐analysis with EADB summary statistics revealed four new loci reaching GWAS significance. Functional annotations of these loci implicated endosome/lysosomal function. Finally, the AD‐GRS presented a similar performance in these populations, despite the score diminished when the Native American ancestry rose.</jats:p></jats:sec><jats:sec><jats:title>DISCUSSION</jats:title><jats:p>We report the first GWAS on AD in a population from South America. It shows shared genetics modulating AD risk between the European and these admixed populations.</jats:p></jats:sec><jats:sec><jats:title>Highlights</jats:title><jats:p><jats:list list-type="bullet"> <jats:list-item><jats:p>This is the first genome‐wide association study on Alzheimer's disease (AD) in a population sample from Argentina and Chile.</jats:p></jats:list-item> <jats:list-item><jats:p>Trans‐ethnic meta‐analysis reveals four new loci involving lysosomal function in AD.</jats:p></jats:list-item> <jats:list-item><jats:p>This is the first independent replication for <jats:italic>TREM2L</jats:italic>, <jats:italic>IGH‐gene‐cluster</jats:italic>, and <jats:italic>ADAM17</jats:italic> loci.</jats:p></jats:list-item> <jats:list-item><jats:p>A genetic risk score (GRS) developed in Europeans performed well in this population.</jats:p></jats:list-item> <jats:list-item><jats:p>The higher the Native American ancestry the lower the GRS values.</jats:p></jats:list-item> </jats:list></jats:p></jats:sec>
    Scopus© Citations 3  1
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    Biomarkers for dementia in Latin American countries: Gaps and opportunities
    (2022)
    Mario A. Parra
    ;
    ORELLANA VILLENA, VIVIANA PAULINA  
    ;
    Tomas Leon
    ;
    Cabello G. Victoria
    ;
    Rodrigo Gomez
      1Scopus© Citations 32  2
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    Systematic Review: Genetic, Neuroimaging, and Fluids Biomarkers for Frontotemporal Dementia Across Latin America Countries
    (2021)
    Claudia Duran-Aniotz
    ;
    Paulina Orellana  
    ;
    Tomas Leon Rodriguez
    ;
    Victoria Cabello
    ;
    Fernando Henriquez
    <jats:p>Frontotemporal dementia (FTD) includes a group of clinically, genetically, and pathologically heterogeneous neurodegenerative disorders, affecting the fronto-insular-temporal regions of the brain. Clinically, FTD is characterized by progressive deficits in behavior, executive function, and language and its diagnosis relies mainly on the clinical expertise of the physician/consensus group and the use of neuropsychological tests and/or structural/functional neuroimaging, depending on local availability. The modest correlation between clinical findings and FTD neuropathology makes the diagnosis difficult using clinical criteria and often leads to underdiagnosis or misdiagnosis, primarily due to lack of recognition or awareness of FTD as a disease and symptom overlap with psychiatric disorders. Despite advances in understanding the underlying neuropathology of FTD, accurate and sensitive diagnosis for this disease is still lacking. One of the major challenges is to improve diagnosis in FTD patients as early as possible. In this context, biomarkers have emerged as useful methods to provide and/or complement clinical diagnosis for this complex syndrome, although more evidence is needed to incorporate most of them into clinical practice. However, most biomarker studies have been performed using North American or European populations, with little representation of the Latin American and the Caribbean (LAC) region. In the LAC region, there are additional challenges, particularly the lack of awareness and knowledge about FTD, even in specialists. Also, LAC genetic heritage and cultures are complex, and both likely influence clinical presentations and may modify baseline biomarker levels. Even more, due to diagnostic delay, the clinical presentation might be further complicated by both neurological and psychiatric comorbidity, such as vascular brain damage, substance abuse, mood disorders, among others. This systematic review provides a brief update and an overview of the current knowledge on genetic, neuroimaging, and fluid biomarkers for FTD in LAC countries. Our review highlights the need for extensive research on biomarkers in FTD in LAC to contribute to a more comprehensive understanding of the disease and its associated biomarkers. Dementia research is certainly reduced in the LAC region, highlighting an urgent need for harmonized, innovative, and cross-regional studies with a global perspective across multiple areas of dementia knowledge.</jats:p>
      1  2Scopus© Citations 23
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      1Scopus© Citations 9  1
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      17  1Scopus© Citations 12
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    Lack of canonical activities of connexins in highly aggressive human prostate cancer cells
    (Springer Science and Business Media LLC, 2024-12-19)
    Catalina Asencio
    ;
    Loreto Véliz
    ;
    Emilia Flores-Faúndez
    ;
    Lorena Azócar
    ;
    Carolina E. Echeverría
    <jats:title>Abstract</jats:title><jats:p>Connexins (Cxs) have the ability to form channels that allow the exchange of ions/metabolites between adjacent cells (gap junction channels, GJC) or between the intra- and extra-cellular compartments (hemichannels, HC). Cxs were initially classified as tumor suppressors. However, more recently, it has been shown that Cxs exert anti- and pro-tumorigenic effects depending on the cell and tissue context. In prostate cancer (PCa), the expression and functionality of Cxs remain highly controversial. Here, we analyzed the expression pattern of Cx26, Cx32, Cx37, Cx40, Cx43 and Cx45 in PCa cell lines with increasing levels of tumor aggressiveness (LNCaP &lt; LNCaP-C4-2 &lt; Du-145 &lt; PC-3). In addition, GJ and HC activities were evaluated in the PCa cell lines using dye coupling and dye uptake assays, respectively. Lastly, the cellular localization of Cx26, Cx32, and Cx43 was analyzed in LNCaP and PC-3 cell lines using immunofluorescence analyses. Our results showed a positive association between the mRNA levels of Cx26, Cx37 and Cx45 and the degree of aggressiveness of PCa cells, a negative association in the case of Cx32 and Cx43, and no clear pattern for Cx40. At the protein level, a negative relationship between the expression of Cx26, Cx32 and Cx43 and the degree of aggressiveness of PCa cell lines was observed. No significant differences were observed for the expression of Cx37, Cx40, and Cx45 in PCa cell lines. At the functional level, only LNCaP cells showed moderate GJ activity and LNCaP and LNCaP-C4-2 cells showed HC activity. Immunofluorescence analyses confirmed that the majority of Cx26, Cx32, and Cx43 expression was localized in the cytoplasm of both LNCaP and PC3 cell lines. This data indicated that GJ and HC activities were moderately detected only in the less aggressive PCa cells, which suggest that Cxs expression in highly aggressive PCa cells could be associated to channel-independent roles.</jats:p>
    Scopus© Citations 3  1