Maria Stella Graziani

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Articoli con TAG: sequenziamento

Studio preliminare del microbiota intestinale, cutaneo e della mucosa orale in pazienti affetti da Pemfigo Volgare e Pemfigoide Bolloso
Preliminary study of the microbiome in the gut, skin and oral mucosa of patients affected by Pemphigus Vulgaris and Bullous Pemphigoid
<p>Introduction: the study of the human microbiome is one of the most dynamic current topics in biomedical research. A significant challenge in this field is the development of cost effective method for a robust interrogation of microbiota composition. Advances in next-generation sequencing (NGS) technologies have allowed for efficient and molecular-based analysisof microbial communities. Association between diseases and imbalance of the microbial populationsare today wellinvestigated.<br />Methods: Pemphigus Vulgaris (PV) and Bullous Pemphigoid (BP) are two rare autoantibody-mediated blisteringskin diseases. In this pilot study, we characterized the intestinal, cutaneous and oral mucosal microbiota compositionsin PV/BP patients, in order to evaluate the potential role of the bacterial composition in these dermatologicaldisorders. Particularly, we performed a high-throughput sequencing analysis of the V3-V4 hypervariable regions of16S rRNA for the evaluation of bacterial composition of stool, skin and oral mucosa samples in PV (n=12) and BP(n=8) patients.<br />Results: a similar composition of the intestinal microbiota was observed in PV and BP patients. The evaluation of skin lesions revealed a prevalence of Firmicutes phylum in both patients&rsquo; groups. In the cutaneous microbiota, we identified a significant decreased abundance of Bacteroidetes phylum compared to healthy controls.<br />Conclusions: the results obtained from our standardized NGS pipeline, reinforced by correlation with other clinical and biochemicalparameters, will contribute to clarify the mechanisms of these rare diseases.</p>
Biochimica Clinica ; 43(4) 406-412
Contributi Scientifici - Scientific Papers
Indagini genetiche di nuova generazione e terapia personalizzata: l’esempio vincente della Fibrosi Cistica
Next generation genetic studies and personalized therapy: the successful model of Cystic Fibrosis
<p>Cystic Fibrosis (CF) is a complex genetic disease. The causative gene is the Cystic Fibrosis Transmembrane Conductance Regulator (<em>CFTR</em>). Although monogenic, this disease has a complex genotype &ndash; phenotype relationship. Several factors originate this complexity. The most important are the high number of <em>CFTR</em> mutations, the difficulty of a full mutational analysis, the incomplete knowledge of the functional effect of mutations and their variable outcome, as well as the existence of modifier genes (different from <em>CFTR</em>) that modulate the clinical severity. This complexity impairs the diagnostic, prognostic and therapeutic ability. Next generation sequencing approaches represent a revolution in genetic studies, because of their rapidity, low-cost and high-throughput. They allow a near complete mutational characterization of <em>CFTR</em> mutated genotypes, with the potentiality of studying several other genes involved in CF clinical modulation. These methods are a perfect precondition for personalized therapeutic approaches of CF. In fact, a full genetic characterization appears to be crucial to applying mutation-specific therapies. Drugs specific for some <em>CFTR</em> mutations are already in clinical practice or in phase 3 trials. The enlargement of the CF personalized therapy to an increasing number of mutated genotypes needs a growing knowledge of structural and functional defects of <em>CFTR</em>. The synergy between next generation genetic approaches, the enhancement of the comprehension of molecular mechanisms of <em>CFTR</em> mutations and the spreading of personalized therapies, are revolutionizing the cure of CF.</p>
Biochimica Clinica ; 42(1) 44-50
Opinioni - Opinions