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Author: search.filters.author.Andrés D. KleinSubject: search.filters.subject.treatment response

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    Item type:Publication,
    Understanding the phenotypic variability in Niemann-Pick disease type C (NPC): a need for precision medicine
    (2023)
    Macarena Las Heras
    ;
    Benjamín Szenfeld
    ;
    Rami A. Ballout
    ;
    Emanuele Buratti
    ;
    Silvana Zanlungo
    <jats:title>Abstract</jats:title><jats:p>Niemann-Pick type C (NPC) disease is a lysosomal storage disease (LSD) characterized by the buildup of endo-lysosomal cholesterol and glycosphingolipids due to loss of function mutations in the <jats:italic>NPC1</jats:italic> and <jats:italic>NPC2</jats:italic> genes. NPC patients can present with a broad phenotypic spectrum, with differences at the age of onset, rate of progression, severity, organs involved, effects on the central nervous system, and even response to pharmacological treatments. This article reviews the phenotypic variation of NPC and discusses its possible causes, such as the remaining function of the defective protein, modifier genes, sex, environmental cues, and splicing factors, among others. We propose that these factors should be considered when designing or repurposing treatments for this disease. Despite its seeming complexity, this proposition is not far-fetched, considering the expanding interest in precision medicine and easier access to multi-omics technologies.</jats:p>
    Scopus© Citations 7  2
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    Item type:Publication,
    Genetic Background Matters: Population-Based Studies in Model Organisms for Translational Research
    (2022)
    Valeria Olguín
    ;
    Anyelo Durán
    ;
    Macarena Las Heras
    ;
    Juan Carlos Rubilar
    ;
    Francisco A. Cubillos
    <jats:p>We are all similar but a bit different. These differences are partially due to variations in our genomes and are related to the heterogeneity of symptoms and responses to treatments that patients exhibit. Most animal studies are performed in one single strain with one manipulation. However, due to the lack of variability, therapies are not always reproducible when treatments are translated to humans. Panels of already sequenced organisms are valuable tools for mimicking human phenotypic heterogeneities and gene mapping. This review summarizes the current knowledge of mouse, fly, and yeast panels with insightful applications for translational research.</jats:p>
      46Scopus© Citations 8