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BC: Articoli scritti da C. Carru

Il microRNA-135b nella caratterizzazione molecolare del carcinoma della mammella “triplo negativo”
miRNA-135b in molecular characterization of triple-negative breast cancer (TNBC)
G. Pira  |  L. Murgia  |  F. Sanges  |  P. Uva  |  P. Cossu-Rocca  |  F. Loi  |  S. Orrù  |  M.R. Muroni  |  C. Carru  |  A. Angius  |  M.R. De Miglio  | 
<p>TNBC accounts for 12-24% of all mammary cancers (BC). Its clinical and genetic heterogeneity and the lack of unambiguous molecular targets contribute to the scarcity of therapeutic options for this BC variant. Recently, the BC molecular biology has entered in the era of microRNAs (miRNA), a class of small highly conserved regulatory endogenous non-coding RNAs, which control complicated signaling pathways, governing cell cycle, proliferation, differentiation, apoptosis, etc., and whose deregulation contributes to the tumour development. Our goal was to improve the knowledge of TNBC biology analyzing the miRNA expression profile and to identify new potential prognostic and predictive biomarkers. We conducted a human miRNome analysis by TaqMan Low Density Array comparing different TNBC subtypes, defined by immunohistochemical basal markers, such as epidermal growth factor receptor and cytokeratin 5/6. Quantitative reverse transcription polymerase chain reaction confirmed differential expression of miRNA. We identified a single miRNA signature given by miR-135b expression levels, which allowed the distinction of TNBC with and without basal-like phenotype. Our study sheds light on the molecular complexity of TNBC and shows for the first time that miR-135b expression is strictly related to TNBC basal-like molecular subtype, acting as an oncogene in the tumor pathogenesis.</p>
Biochimica Clinica ; 41(3) 239-244
Contributi scientifici - Scientific papers
 
Pemfigoide bolloso in una paziente di 106 anni
Bullous pemphigoid in a 106-years old female
V. Ventura  |  M. Posadinu  |  M. Deiana  |  A. Baralla  |  S. Pasella  |  L. Murgia  |  S. Pinna  |  E.  Canu  |  A. Zinellu  |  S. Sotgia  |  C. Carru  |  L. Deiana  | 
<p>Bullous pemhigoid (BP) is an autoimmune subepidermal blistering&nbsp;disease, usually occurring in the elderly. In Europe the incidence of BP has doubled in the last 10 years. The disease&nbsp;has a chronic relapsing course and a relatively benign prognosis. An increasing number of publications report altered&nbsp;expression of a number of cytokines. However, at the present it is not possible to establish a specific role for them in&nbsp;the disease. We report a case of a centenarian woman with a BP occurrence in otherwise optimal health conditions.&nbsp;Besides the usual biochemical investigations, plasma concentrations of a number of cytokines were evaluated during&nbsp;the disease course (relapse and remission). The majority of the measured cytokines were elevated in the active phase&nbsp;of the disease and returned to values similar to those presented by a group of apparently healthy subjects of similar&nbsp;age during the remission. This case could be useful to better understand the role of cytokines in autoimmune skin&nbsp;diseases of the aging.</p>
Biochimica Clinica ; 39(2) 152-156
Casi clinici - Case report
 
Interleuchine e necrolisi tossica epidermica
Interleukins and toxic epidermal necrolysis (TEN)
V. Ventura  |  A. Posadinu  |  M. Deiana  |  A. Baralla  |  S. Pasella  |  L. Murgia  |  S. Pinna  |  E.  Canu  |  A. Marchisio  |  A. Zinellu  |  C. Carru  |  L. Deiana  | 
<p>TEN is a rare disease characterized by the separation of skin&nbsp;and mucous membranes from the derma. The reported clinical case refers to an adult female hospitalized at the&nbsp;Burns Unit after allopurinol prescription. During hospitalization the patient underwent the therapeutic protocol&nbsp;established at the Burns Unit including intravenus immunoglobulin administration and plasmapheresis. At the end of&nbsp;therapy a clinical improvement of both local and global conditions was observed. During the course of disease, we&nbsp;measured plasma concentrations of a number of cytokines. Measurements were performed using commercially&nbsp;available multiplex bead-based sandwich immunoassays (Biorad). We found a marked decrease in concentrations of&nbsp;interleukin (IL)-6, interferon -induced protein (IP)-10 e IL-13 at various stages of apheresis therapy, particularly&nbsp;pronounced for IP-10. We also found a normalization of IL-6 and IP-10 concentrations during the follow-up. In&nbsp;addition, very high concentrations of the same cytokines in the plasma effluent after apheresis were observed.&nbsp;Although obtained in a single case, our results suggest a correlation between plasma concentrations of cytokines and&nbsp;the clinical course of TEN. It can be postulated that this approach could serve as a guide for future research in the&nbsp;development of targeted therapy based on the etiopathogenesis of TEN.</p>
Biochimica Clinica ; 38(1) 65-69
Casi clinici - Case report
 
Polimorfismo I/D del gene per l’enzima di conversione dell’angiotensina (ACE): gene della longevità o fattore di rischio nella patologia ipertensiva?
Polymorphism of the angiotensin converting enzyme gene: longevity gene or risk factor in hypertensive disease?
<p>In recent decades, the increase in life expectancy stimulated the study of aging processes and the search for&nbsp;candidate genes involved in longevity. The angiotensin converting enzyme (ACE), present in all endothelial cells, plays&nbsp;an essential role in maintaining the homeostasis of blood flow by regulating the production of the vasoconstrictor&nbsp;angiotensin II and inactivating the bradykinin. Some studies reported a possible association between the polymorphism&nbsp;I/D of ACE gene and either hypertension and longevity. The present study was aimed to confirm these data. We studied&nbsp;two large cohorts of nonagenarians and centenarians. One was from Sardinia (200 subjects, 88 males, mean age: 96&nbsp;years) and their data were compared to a group of 222 subjects (106 males, mean age: 44 years) from the general&nbsp;population of the same geographic area. The latter group of longeve subjects (161 subjects, 71 males, mean age: 97&nbsp;years) was from Southern Italy. Furthermore, we studied 146 hypertensive patients (98 males, mean age: 51 years) and&nbsp;172 normotensive subjects (86 males, mean age: 33 years) from Southern Italy. The ACE I/D polymorphism was typed&nbsp;by polymerase chain reaction; the amplified 490 bp (allele I) and 190 bp (allele D) were visualized on 2% agarose gel.&nbsp;Hypertensive subjects had a significantly different distribution of ACE genotypes as compared to normotensive ones&nbsp;(P=0.001) and a higher frequency of the D/D genotype. Long-lived subjects from Sardinia showed a significantly different&nbsp;distribution of ACE genotypes as compared to subjects from the general population of the same geographic area (P&nbsp;&lt;0.001), to long-lived subjects from Southern Italy (P &lt;0.001), to hypertensive patients (P=0.011) and to normotensive&nbsp;subjects from Southern Italy (P &lt;0.001). Surprisingly, they had the highest frequency of the D/D genotype among the&nbsp;compared groups. Our study indicates that: i) centenarians of different ethnic origin have a different genetic background,&nbsp;ii) there is a possible association between longevity and allelic variants of ACE, even if only in specific ethnic groups (i.e.,&nbsp;Sardinian) and iii) ACE polymorphisms are a predisposing factor to hypertension.</p>
Biochimica Clinica ; 37(6) 461-464
Contributi scientifici - Scientific papers