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BC: Articoli scritti da M. Lucarelli

La metilazione del DNA nella diagnostica: stato dell’arte e prospettive
DNA methylation in diagnostics: state of the art and perspectives
A. Fuso  |  M. Lucarelli  | 
<p>DNA methylation is the most known and studied among the epigenetic modifications; these are chemical modifications occurring on DNA or histone proteins, able at modifying the transcriptional efficiency of genes. DNA methylation consists in the binding of a methyl group (-CH3) on the carbon n. 5 of a cytosine moiety. Recently, it has been demonstrated that methylated cytosines can be further modified to hydroy-methyl-cytosines, but it is still unclear whether this transformation is just a demethylation intermediate or it canretain the functional role of an independent epigenetic modification. At first, DNA methylation has been studied for itsphysiological role in the regulation of one expression during the different stages of the cell life, particularly duringdifferential and embryogenesis. Then, during the last thirty year, it has been shown that the epigenetic modifications,particularly DNA methylation, are involved in the onset and progression processes of some pathologies. The role of DNA methylation in cancer processes is known since a long time, whereas only recently it becomes evident that this epigenetic modification is a component of some degenerative and aging-associated pathologies, particularly in neurodegenerative and inflammatory processes. Due to the incredible technical advances developed in the last years, it is now possible to study in detail the methylation pattern of a gene sequence with single cytosine resolution, rapidly and with high accuracy and precision. Besides allowing the rapid evolution of our knowledge of the physio-pathological states in which DNA methylation has a functional role, this favourable condition also allows us to consider the possible use of DNA methylation as diagnostic biomarker in different pathologies.</p>
Biochimica Clinica ; 43(4) 413-420
Opinioni - Opinions
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