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    Molecular Diversity Preservation International (MDPI)
    In: Genes
    Publication Date: 2018-09-12
    Description: Genes, Vol. 9, Pages 455: Correction of a Splicing Mutation Affecting an Unverricht-Lundborg Disease Patient by Antisense Therapy Genes doi: 10.3390/genes9090455 Authors: Liliana Matos Ana Joana Duarte Diogo Ribeiro João Chaves Olga Amaral Sandra Alves Unverricht-Lundborg disease (ULD) is a common form of progressive myoclonic epilepsy caused by mutations in the cystatin B gene (CSTB) that encodes an inhibitor of several lysosomal cathepsins. Presently, only pharmacological treatment and psychosocial support are available for ULD patients. To overcome the pathogenic effect of the ULD splicing mutation c.66G>A (exon 1), we investigated whether an antisense oligonucleotide therapeutic strategy could correct the defect in patient cells. A specific locked nucleic acid (LNA) antisense oligonucleotide was designed to block a cryptic 5′ss in intron 1. Overall, this approach allowed the restoration of the normal splicing pattern. Furthermore, the recovery was both sequence and dose-specific. In general, this work provides a proof of principle on the correction of a CSTB gene defect causing ULD through a mutation-specific antisense therapy. It adds evidence to the feasibility of this approach, joining the many studies that are paving the way for translating antisense technology into the clinical practice. The insights detailed herein make mutation-based therapy a clear candidate for personalized treatment of ULD patients, encouraging similar investigations into other genetic diseases.
    Electronic ISSN: 2073-4425
    Topics: Biology
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  • 2
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    Molecular Diversity Preservation International (MDPI)
    In: Genes
    Publication Date: 2018-09-07
    Description: Genes, Vol. 9, Pages 445: Metagenomic Composition Analysis of an Ancient Sequenced Polar Bear Jawbone from Svalbard Genes doi: 10.3390/genes9090445 Authors: Diogo Pratas Morteza Hosseini Gonçalo Grilo Armando J. Pinho Raquel M. Silva Tânia Caetano João Carneiro Filipe Pereira The sequencing of ancient DNA samples provides a novel way to find, characterize, and distinguish exogenous genomes of endogenous targets. After sequencing, computational composition analysis enables filtering of undesired sources in the focal organism, with the purpose of improving the quality of assemblies and subsequent data analysis. More importantly, such analysis allows extinct and extant species to be identified without requiring a specific or new sequencing run. However, the identification of exogenous organisms is a complex task, given the nature and degradation of the samples, and the evident necessity of using efficient computational tools, which rely on algorithms that are both fast and highly sensitive. In this work, we relied on a fast and highly sensitive tool, FALCON-meta, which measures similarity against whole-genome reference databases, to analyse the metagenomic composition of an ancient polar bear (Ursus maritimus) jawbone fossil. The fossil was collected in Svalbard, Norway, and has an estimated age of 110,000 to 130,000 years. The FASTQ samples contained 349 GB of nonamplified shotgun sequencing data. We identified and localized, relative to the FASTQ samples, the genomes with significant similarities to reference microbial genomes, including those of viruses, bacteria, and archaea, and to fungal, mitochondrial, and plastidial sequences. Among other striking features, we found significant similarities between modern-human, some bacterial and viral sequences (contamination) and the organelle sequences of wild carrot and tomato relative to the whole samples. For each exogenous candidate, we ran a damage pattern analysis, which in addition to revealing shallow levels of damage in the plant candidates, identified the source as contamination.
    Electronic ISSN: 2073-4425
    Topics: Biology
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