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Auswahl der wissenschaftlichen Literatur zum Thema „Microsatellite disorders“
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Zeitschriftenartikel zum Thema "Microsatellite disorders"
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Richard, Guy-Franck. „The Startling Role of Mismatch Repair in Trinucleotide Repeat Expansions“. Cells 10, Nr. 5 (26.04.2021): 1019. http://dx.doi.org/10.3390/cells10051019.
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Trinucleotide repeats are a peculiar class of microsatellites whose expansions are responsible for approximately 30 human neurological or developmental disorders. The molecular mechanisms responsible for these expansions in humans are not totally understood, but experiments in model systems such as yeast, transgenic mice, and human cells have brought evidence that the mismatch repair machinery is involved in generating these expansions. The present review summarizes, in the first part, the role of mismatch repair in detecting and fixing the DNA strand slippage occurring during microsatellite replication. In the second part, key molecular differences between normal microsatellites and those that show a bias toward expansions are extensively presented. The effect of mismatch repair mutants on microsatellite expansions is detailed in model systems, and in vitro experiments on mismatched DNA substrates are described. Finally, a model presenting the possible roles of the mismatch repair machinery in microsatellite expansions is proposed.
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Avvaru, Akshay Kumar, Deepak Sharma, Archana Verma, Rakesh K. Mishra und Divya Tej Sowpati. „MSDB: a comprehensive, annotated database of microsatellites“. Nucleic Acids Research 48, Nr. D1 (10.10.2019): D155—D159. http://dx.doi.org/10.1093/nar/gkz886.
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Abstract Microsatellites are short tandem repeats of 1–6 nucleotide motifs, studied for their utility as genome markers and in forensics. Recent evidence points to the role of microsatellites in important regulatory functions, and their length polymorphisms at coding regions are linked to various neurodegenerative disorders in humans. Microsatellites show a taxon-specific enrichment in eukaryotic genomes, and their evolution remains poorly understood. Though other databases of microsatellites exist, they fall short on several fronts. MSDB (MicroSatellite DataBase) is a collection of >4 billion microsatellites from 37 680 genomes presented in a user-friendly web portal for easy, interactive analysis and visualization. This is by far the most comprehensive, annotated, updated database to access and analyze microsatellite data of multiple species. The features of MSDB enable users to explore the data as tables that can be filtered and exported, and also as interactive charts to view and compare the data of multiple species simultaneously. Its modularity and architecture permit seamless updates with new data, making it a powerful tool and useful resource to researchers working on this important class of DNA elements, particularly in context of their evolution and emerging roles in genome organization and gene regulation.
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Ranum, Laura P. W., und John W. Day. „Dominantly inherited, non-coding microsatellite expansion disorders“. Current Opinion in Genetics & Development 12, Nr. 3 (Juni 2002): 266–71. http://dx.doi.org/10.1016/s0959-437x(02)00297-6.
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Volpe, G., B. Gamberi, C. Pastore, A. Roetto, M. Pautasso, G. Parvis, C. Camaschella, U. Mazza, G. Saglio und G. Gaidano. „Analysis of microsatellite instability in chronic lymphoproliferative disorders“. Annals of Hematology 72, Nr. 2 (Februar 1996): 67–71. http://dx.doi.org/10.1007/bf00641310.
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Volpe, G., B. Gamberi, C. Pastore, A. Roetto, M. Pautasso, G. Parvis, C. Camaschella, U. Mazza, G. Saglio und G. Gaidano. „Analysis of microsatellite instability in chronic lymphoproliferative disorders“. Annals of Hematology 72, Nr. 2 (01.02.1996): 67–71. http://dx.doi.org/10.1007/s002770050139.
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Poggi, Lucie, Lisa Emmenegger, Stéphane Descorps-Declère, Bruno Dumas und Guy-Franck Richard. „Differential efficacies of Cas nucleases on microsatellites involved in human disorders and associated off-target mutations“. Nucleic Acids Research 49, Nr. 14 (07.07.2021): 8120–34. http://dx.doi.org/10.1093/nar/gkab569.
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Abstract Microsatellite expansions are the cause of >20 neurological or developmental human disorders. Shortening expanded repeats using specific DNA endonucleases may be envisioned as a gene editing approach. Here, we measured the efficacy of several CRISPR–Cas nucleases to induce recombination within disease-related microsatellites, in Saccharomyces cerevisiae. Broad variations in nuclease performances were detected on all repeat tracts. Wild-type Streptococcus pyogenes Cas9 (SpCas9) was more efficient than Staphylococcus aureus Cas9 on all repeats tested, except (CAG)33. Cas12a (Cpf1) was the most efficient on GAA trinucleotide repeats, whereas GC-rich repeats were more efficiently cut by SpCas9. The main genetic factor underlying Cas efficacy was the propensity of the recognition part of the sgRNA to form a stable secondary structure, independently of its structural part. This suggests that such structures form in vivo and interfere with sgRNA metabolism. The yeast genome contains 221 natural CAG/CTG and GAA/CTT trinucleotide repeats. Deep sequencing after nuclease induction identified three of them as carrying statistically significant low frequency mutations, corresponding to SpCas9 off-target double-strand breaks.
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Shoab Mansuri, Mohmmad, Mala Singh und Munira Jariwala. „Investigating the Association of Poly (ADP-Ribose) Polymerase-1 (PARP-1) and Nuclear Factor-κB (NF-κB) Polymorphisms with Vitiligo Susceptibility“. International Journal of Research and Review 9, Nr. 10 (17.10.2022): 277–85. http://dx.doi.org/10.52403/ijrr.20221032.
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Background: Poly (ADP-ribose) polymerase-1 (PARP-1) is a co-activator of nuclear factor-κB (NF-κB) and is also strongly activated by DNA damage. PARP has also been found to be associated with several autoimmune disorders. Vitiligo is a polygenic, multifactorial, acquired skin disorder caused due to loss of epidermal melanocytes. Among others, genetic and immunological factors are associated with vitiligo pathogenesis. Aim: To investigate the association of PARP1 exon 17 (rs1136410; V762A) and promoter CA microsatellite repeat (rs1136410) polymorphisms, and NF-κB promoter -94 indelATTG (rs28362491) polymorphism with vitiligo pathogenesis in Gujarat population. Methods: Genotyping of PARP1 17T/C (rs5030870) polymorphism was done by PCR-RFLP.PARP1 CA microsatellite and NF-κB-94 indel (rs28362491) polymorphisms were genotyped by Real-Time PCR. Anti-PARP antibody levels were assessed by ELISA. Results: The results suggested no significant difference in allele and genotype frequencies of PARP1 17 T/C (p=0.5094 and p=0.4201, respectively), PARP1 CA microsatellite polymorphisms (p=0.9519 and p=0.9338, respectively) and NF-κB-94 ATTG indel polymorphism (p=0.1482 and p=0.3784, respectively) in patients as compared to controls. Conclusion: This study suggests no association of PARP1 17 T/C, PARP1 CA microsatellite and NF-κB-94 ATTG indel polymorphisms with vitiligo susceptibility in Gujarat population. Additionally, anti-PARP1 antibody levels were not significantly different among patients and controls. These findings suggest the need for additional studies to explore the role of PARP1 in vitiligo pathogenesis. Keywords: Vitiligo, poly (ADP-ribose) polymerase-1(PARP-1), nuclear factor-κB (NF-κB), polymorphisms, Autoimmunity
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Echeverria, Gloria V., und Thomas A. Cooper. „RNA-binding proteins in microsatellite expansion disorders: Mediators of RNA toxicity“. Brain Research 1462 (Juni 2012): 100–111. http://dx.doi.org/10.1016/j.brainres.2012.02.030.
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Hayward, Bruce E., Peter J. Steinbach und Karen Usdin. „A point mutation in the nuclease domain of MLH3 eliminates repeat expansions in a mouse stem cell model of the Fragile X-related disorders“. Nucleic Acids Research 48, Nr. 14 (03.07.2020): 7856–63. http://dx.doi.org/10.1093/nar/gkaa573.
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Abstract The Fragile X-related disorders (FXDs) are Repeat Expansion Diseases, genetic disorders that result from the expansion of a disease-specific microsatellite. In those Repeat Expansion Disease models where it has been examined, expansion is dependent on functional mismatch repair (MMR) factors, including MutLγ, a heterodimer of MLH1/MLH3, one of the three MutL complexes found in mammals and a minor player in MMR. In contrast, MutLα, a much more abundant MutL complex that is the major contributor to MMR, is either not required for expansion or plays a limited role in expansion in many model systems. How MutLγ acts to generate expansions is unclear given its normal role in protecting against microsatellite instability and while MLH3 does have an associated endonuclease activity, whether that contributes to repeat expansion is uncertain. We show here, using a gene-editing approach, that a point mutation that eliminates the endonuclease activity of MLH3 eliminates expansions in an FXD mouse embryonic stem cell model. This restricts the number of possible models for repeat expansion and supports the idea that MutLγ may be a useful druggable target to reduce somatic expansion in those disorders where it contributes to disease pathology.
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Grespi, Valentina, Cecilia Caprera, Claudia Ricciolini, Ilaria Bicchi, Gianmarco Muzi, Matteo Corsi, Stefano Ascani, Angelo Luigi Vescovi und Maurizio Gelati. „Human neural stem cells drug product: Microsatellite instability analysis“. PLOS ONE 17, Nr. 8 (30.08.2022): e0273679. http://dx.doi.org/10.1371/journal.pone.0273679.
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Introduction In central nervous system neurodegenerative disorders, stem cell-based therapies should be considered as a promising therapeutic approach. The safe use of human Neural Stem Cells (hNSCs) for the treatment of several neurological diseases is currently under evaluation of phase I/II clinical trials. Clinical application of hNSCs require the development of GMP standardized protocols capable of generating high quantities of reproducible and well characterized stem cells bearing stable functional and genetic properties. Aim The aim of this study was to evaluate possible instabilities or modifications of the microsatellite loci in different culture passages because high culture passages represent an in vitro replicative stress leading to senescence. Experimental method: The hNSCs were characterized at different culture time points, from passage 2 to passage 25, by genetic typing at ten microsatellite loci. Conclusion We showed that genetic stability at microsatellite loci is maintained by the cells even at high passages adding a further demonstration of the safety of our hNSCs GMP culture method.
Dissertationen zum Thema "Microsatellite disorders"
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Poggi, Lucie. „Gene editing approaches of microsatellite disorders : shortening expanded repeats“. Electronic Thesis or Diss., Sorbonne université, 2020. http://www.theses.fr/2020SORUS412.
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Les maladies à triplet sont dues à des expansions de trinucléotides dans l’ADN. Aucun traitement n’existe pour les soigner. Le but de cette thèse est de mettre au point de nouvelles approches de thérapie génique pour supprimer les expansions pathologiques dans le génome humain. Dans une première partie, un système expérimental dans la levure a été construit afin d’évaluer l’efficacité de différentes nucléases associées au système CRISPR sur des microsatellites. La seconde partie est concentrée sur une maladie à triplet en particulier ; la dystrophie myotonique de type 1 (DM1), qui est due à une expansion d’une répétition de triplets CTG dans la région 3’UTR du gène DMPK. Une nucléase, TALENCTG , construite pour induire une cassure double-brin dans les répétitions CTG en 3’UTR du gène DMPK, induit de manière très efficace des contractions de triplets CTG dans la levure. Des événements de contraction ont été observés lorsque cette nucléase est exprimée. Des expériences in vivo dans un modèle de souris contenant un fragment d’ADN génomique humain de patient contenant 1000 CTG ont été menées. Des particules virales AAV recombinantes portant le gène de la TALEN ont été produites. Après injection intramusculaire, les cellules musculaires expriment la nucléase, mais dû à une toxicité ou immunogénicité de la protéine, l’expression est perdue. Enfin, le système mis au point dans la levure a été transposé dans une lignée cellulaire humaine établie, les HEK293FS. Ce système pourra servir à sélectionner des nucléases actives dans les cellules humainesMicrosatellite disorders are a specific class of human diseases that are due to the expansion of repeated sequences above pathological thresholds. These disorders have varying symptoms and pathogenic mechanisms, caused by the expanded repeat. No cure exists for any of these dramatic conditions. This thesis is investigating new gene editing approaches to remove pathological expansions in the human genome. In a first part, a yeast-based screen was constructed to identify potent CRISPR-associated nucleases that can cut these microsatellites. The second part focuses on myotonic dystrophy type 1 (DM1), which is due to and expanded CTG repeat tract located at the 3’UTR of the DMKP gene. A nuclease, TALENCTG was designed to induce a double strand break into the CTG repeats. It was previously shown to be active in yeast cells, inducing contractions of CTG repeats from a DM1 patient integrated into the yeast genome. The TALEN was tested in DM1 patient cells. The nuclease was found to trigger some contraction events in patient cells. In vivo experiments were carried out in a mouse model of myotonic dystrophy type 1 containing a human genomic fragment from a patient and 1000 CTG. Intramuscular injections of recombinant AAV encoding the TALENCTG revealed that the nuclease is toxic and/or immunogenic in muscle cells in the tested experimental conditions. Finally, the reporter assay integrated in yeast to screen nucleases was transposed in HEK293FS cell line. The integrated cassette contains a CTG expansion from a myotonic dystrophy type 1 patient flanked by two halves of GFP genes. This system would enable to find nucleases active in human cells
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Vaksman, Zalman. „Somatic microsatellite variability as a measure of DNA stability in cancer and DNA repair disorders“. Diss., Virginia Tech, 2015. http://hdl.handle.net/10919/51174.
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Microsatellites (MSTs) are short tandem repeats of motifs, 1 — 6 nucleotide in length, and are considered mutational 'hot-spots' and show a greater degree of somatic variability and population polymorphisms than surrounding DNA sequences. MSTs provide for a unique computational alignment problem for many commonly used algorithms, and therefore required software tools to be developed to specifically address these issues. For this work we developed a novel approach to extract MSTs from next-gen sequencing data that can robustly detect signatures of MST mutation bias and somatic variation occurring in next-gen data including a high frequency of in-phase indels. Somatic variability, novel genomic polymorphisms that arise within a cell population not found in the progenitors, plays a critical role in cellular reprogramming leading to the development and progression of cancer. MST mutation rates are between 10 and 1000 time higher than that of surrounding DNA. MSTs are found ubiquitously throughout the genome including in nearly all transcribed regions and 10-20% of coding genomic regions. Currently the only established DNA repair defect that that has been directly linked to MST instability is replication coupled mismatch repair (MMR). An initial analysis of the utility of the software was conducted with DNA repair impaired cell lines. The results demonstrated the utility in identifying the consequences of DNA repair impairments on genomic stability. There were major objectives of the finding including 1) complimenting genomics of matched DNA samples with in-sample quantification of variation and 2) demonstrating that DNA repair proficient cells and those with different defects in DNA repair can have different somatic MST variability (SMV) profiles that may be potential markers for these defects.
DNA repair disorders are debilitating conditions that result in physical and neurological abnormalities robbing the individual of a normal quality of life and life span. The various conditions that fall into this class are known as progeroid disorders and they provide a very important glimpse into the aging process on a genomic level. The conditions for four cohorts analyzed here were; Cockayne's syndrome, caused by the loss of the ERCC8 gene, also known as CSA; xeroderma pigmentosum, caused by the loss of the XPA or XPB genes; Werner syndrome, caused by the loss of the RecQL2 gene; and Rothmond-Thomson syndrome, caused by the loss of the RecQL4 gene. The goal of this project was to determine if impaired excision repair genes CSA or global XPA and B or excision repair supporting helicases BLM or RecQL4 leads to MST destabilization. Comparing cohorts from excision repair disorders with a co-sequenced normal cohort we found that CSA both RecQ helicases had an effect on the exome somatic variability of MSTs. On the other hand the effects of XPA/B were inconclusive.
MST instability (MSI), defined as acquired/lost primary alleles in tumors for a small set of microsatellite loci, has been implicated and is a clinically relevant marker for colorectal cancer. Conversely, no clinically actionable genetic markers have been found for liver cancer, a cancer with a very high mortality rate. Here we explore the use SMV defined as the presence of minor alleles at MST loci, as a complementary measure of MSI as a genetic marker for colorectal and liver cancer by analyzing Illumina sequenced genomes from The Cancer Genome Atlas. Our data shows that SMV may distinguish a subpopulation of African American patients with colorectal cancer, ~33% of the population in this study. Further, for liver cancer, a higher rate of SMV may be indicative of earlier age of onset. In conclusion, the work presented here suggests that MSI should be expanded to include SMV, not only instability.Ph. D.
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Vaysse-Zinkhöfer, Wilhelm. „Mécanismes de réparations d’une cassure double-brin et résection au sein d’un microsatellite humain“. Electronic Thesis or Diss., Sorbonne université, 2021. http://www.theses.fr/2021SORUS477.
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Les microsatellites sont des répétitions en tandem d’un motif compris entre une et neuf paires de bases. Ces répétitions retrouvées dans tous les organismes de façon ubiquitaire, sont particulièrement abondantes dans les organismes eucaryotes. Toutes ces répétitions sont capables de former des structures secondaires in vitro et possiblement in vivo. Certains microsatellites sont enclins à une expansion, conduisant à de nombreuses maladies neurodégénératives chez l’homme telle que la dystrophie myotonique de type 1 (DM1), maladie neurodégénérative la plus fréquemment transmise. L’apparition et la sévérité des symptômes sont positivement corrélée avec le nombre de répétitions, localisées dans le 3’UTR du gène DMPK. Dans des travaux précédents du laboratoire, une TALE nucléase (TALEN) a été élaborée dans le but d’introduire une cassure double-brin au sein d’un microsatellite (CTG)n provenant d’un patient DM1. La compréhension des mécanismes conduisant à la contraction des répétitions chez la levure est nécessaire si l’on souhaite en comprendre les mécanismes chez l’homme. Ainsi, des expériences ont été menées dans des cellules dont les systèmes de réparation des CDB ont été altérés, montrant que RAD51, POL32 et DNL4 n’étaient pas nécessaires à la réparation des CDB au sein des microsatellites. Seul RAD50 et RAD52 semblent nécessaires, indiquant que la cellule répare les CDB dans les régions répétées par single-strand annealing. L’objectif de cette thèse a été d’étudier le rôle de plusieurs gènes (MRE11, EXO1, SGS1, DNA2, SAE2, RIF1 et RIF2), impliqués dans la résection et la réparation d’une unique CDB au sein d’une région répétée CTG, chez la levureMicrosatellites are tandem repeats of a motif between one and nine base pairs. These repeats are found ubiquitously in all organisms and are particularly abundant in eukaryotic organisms. All these repeats are capable of forming secondary structures in vitro and possibly in vivo. Some microsatellites are prone to expansion, leading to many neurodegenerative diseases in humans such as myotonic dystrophy type 1 (DM1), the most frequently transmitted neurodegenerative disease. The onset and severity of symptoms are positively correlated with the number of repeats located in the 3'UTR of the DMPK gene. In previous work in the laboratory, a TALE nuclease (TALEN) was developed to introduce a double-strand break into a microsatellite (GTC)n from a DM1 patient. Understanding the mechanisms leading to repeat contraction in yeast is necessary to understand the mechanisms in humans. Thus, experiments were conducted in cells with altered CBD repair systems showing that RAD51, POL32 and DNL4 were not required for CBD repair within microsatellites. Only RAD50 and RAD52 appear to be required, indicating that the cell repairs CBDs in repeated regions by single-strand annealing. The objective of this thesis was to study the role of several genes (MRE11, EXO1, SGS1, DNA2, SAE2, RIF1 and RIF2), involved in the resection and repair of a single CBD within a CTG repeat region, in yeast
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Rohilla, Kushal. „Cell-Based Models and RNA Biology for a Genetic Form of Lou Gehrig's Disease“. OpenSIUC, 2020. https://opensiuc.lib.siu.edu/dissertations/1784.
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Microsatellites, or simple tandem repeat sequences, occur naturally in the human genome and have important roles in genome evolution and function. However, the expansion of microsatellites is associated with over two dozen neurological diseases. A common denominator among the majority of these disorders is the expression of expanded tandem repeat-containing RNA, referred to as xtrRNA, which can mediate molecular disease pathology in multiple ways. Frontotemporal Dementia (FTD) and Amyotrophic Lateral Sclerosis (ALS) are two fatal neurodegenerative diseases with significant clinical, neurological and genetic overlap thus referred to as C9FTD/ALS. Currently, gaps in the study of the underlying disease mechanisms persist, which can aid in the identification of promising therapeutic approaches. Access to simple models of neurological repeat expansion disease is critical for investigating biochemical mechanisms and for early therapeutic discovery. To better understand the molecular pathology of C9FTD/ALS repeat expansion disorder, we cloned GGGGCC repeats, which are the leading genetic cause of C9FTD/ALS. We employed a recursive directional ligation (RDL) technique to build multiple GGGGCC repeat-containing vectors and validated the cloning to facilitate step-by-step characterization of disease mechanisms at the cellular and molecular level using these vectors. In this study, we also differentiated C9FTD/ALS patient-derived induced pluripotent stem cells (iPSCs) to neural stem cells (NSCs) to be used as model systems. The use of iPSCs and NSCs to reveal important insights into the pathogenic mechanisms and to generate multiple neural cell types presents an excellent opportunity for researchers to model neurodegenerative diseases for cell therapy and drug discovery. We further investigated potential nuclear export mechanisms for C9FTD/ALS xtrRNA. The nuclear export mechanisms of xtrRNA in C9FTD/ALS are not well studied. ASOs and siRNAs were employed to knockdown genes of interest to study their involvement in the nuclear export of xtrRNA. We saw promising results on knockdown of TorsinA involved in nuclear export of xtrRNAs, corroborated by a substantial increase in the average number of xtrRNA foci in the nucleus. Our initial study provides evidence that TOR1A may be involved in the nuclear export of aberrant C9FTD/ALS repeat-containing RNAs. Due to the lack of reliable and robust assays to detect RAN translation products, the effect of the knockdown of TorsinA in these cell lines still remains to be explored. But the current study lays the groundwork for a deeper understanding of the less-studied nuclear export mechanisms in C9FTD/ALS and could reveal new therapeutic approaches to selectively block the nuclear export of xtrRNA through the use of RNAi and ASOs. The insights gained from this study will help us understand future events in the xtrRNA life cycle such as repeat translation mechanisms.
Buchteile zum Thema "Microsatellite disorders"
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Goodwin, Marianne, und Maurice S. Swanson. „RNA-Binding Protein Misregulation in Microsatellite Expansion Disorders“. In Systems Biology of RNA Binding Proteins, 353–88. New York, NY: Springer New York, 2014. http://dx.doi.org/10.1007/978-1-4939-1221-6_10.
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Dias, Christel, und Cynthia Gates Goodyer. „Association of a Human Growth Hormone Receptor (HGHR) Gene Microsatellite Polymorphism with Idiopathic Short Stature (ISS)“. In CLINICAL/TRANSLATIONAL - Growth Disorders, P1–726—P1–726. The Endocrine Society, 2011. http://dx.doi.org/10.1210/endo-meetings.2011.part2.p19.p1-726.
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Barcellos, Lisa F., Soren Germer und William Klitz. „DNA pooling methods for association mapping of complex disease loci“. In Molecular Epidemiology, 113–44. Oxford University PressOxford, 2007. http://dx.doi.org/10.1093/oso/9780199638116.003.0005.
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Abstract The rapid development and application of highly informative microsatellite markers throughout the human genome has greatly facilitated the identification of disease loci in hundreds of rare Mendelian disorders. Utilization of large multigenerational pedigrees with multiple affected individuals is a proven strategy for isolating chromosomal regions containing disease genes using microsatellite markers and traditional lod score linkage analysis. Linkage studies are often followed by association studies to further define the candidate region and to identify the putative disease gene. Linkage disequilibrium, the basis of marker associations, is typically found within a distance of 500 kb, about 0.5 (cM), although, in general, this distance may vary considerably according to population history, across different regions of the genome, and with marker type (1–4). Disease genes mapped to date, however, have shown linkage disequilibrium with markers sufficiently close to the disease gene to guide discovery of the disease locus. Examples of these successes include cystic fibrosis, Huntington disease, Wilson disease, Batten disease, Friedreich ataxia, myotonic dystrophy, torsion dystonia, hereditary haemochromatosis, diastrophic dysplasia, adult onset polycystic kidney disease, familial breast cancer, and many others.
Konferenzberichte zum Thema "Microsatellite disorders"
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Charbonneaux, Juliette, und Karine Berthelot Guiet. „Of Seals and Humans. Media and scientific discourses about a caregiving medical device.“ In 14th International Conference on Applied Human Factors and Ergonomics (AHFE 2023). AHFE International, 2023. http://dx.doi.org/10.54941/ahfe1003485.
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The approach we propose is developed within an integrated cancer research site or Siric CURAMUS (Cancer United Research Associating Medicine, University & Society) linked to the Groupe Hospitalier Pitié Salpêtrière - Sorbonne University. The eight Sirics accredited in France by the Institut du Cancer have the mission of optimizing and accelerating the production of new knowledge and promoting its dissemination and application in the treatment of cancer through integrated and translational multidisciplinary research programs. CURAMUS has three integrated research programs (neuro-oncology, rare immuno-hematological cancers, microsatellite instability cancers) linked to a cross-cutting program in human and social sciences whose objectives are to achieve multidisciplinary assessments, between technical expertise and patient preferences, and issues of ethics, equity, particularly in access to care.This paper aims to analyze the representations of mediation and assistance within the framework of cognitive deficits and/or accompaniment of cancer patients, through communication and mediatization around an animal-shaped technical communicating device: the stuffed seal Paro, an emotional robot for therapeutic assistance. Paro was originally developed in Japan in 2005. According to the french website dedicated to it, « Paro aims to offer health professionals an easy-to-use, high-tech tool to convey the benefits of animal therapy to people with behavioral and communication disorders (Alzheimer's patients and related disorders), or with motor and sensory deficiencies, by improving their well-being and quality of life in a non-medicated setting » .With this case study, the paper aims to explore the following research questions : What are the imaginary and presence of animal mediation in this specific medical context ? Which imaginary and presence of the power of technical mediation devices are conveyed with the use of Paro? What are the representations of communication, within the framework of medical caregiving, peddled by this device and its uses?These issues will be addressed using a composite methodology, combining semi-structured interviews with caregivers already using the seal, clinical staff members of CURAMUS about possibles uses of Paro in the context rare neurological and hematological cancers and semio-communicational analysis (content and discourse analysis) of a specific corpus. This corpus will include the following items : the french Paro website, international and specifically French press review about the Paro device and Web pages dedicated to Paro on French institutional websites about cancer (The Ligue contre le cancer for example). The purpose of this research is to encourage translational perspectives through the analysis of current uses in the French health system and the explorations of possible of use within the Siric CURAMUS clinical teams and hospital facilities.