Publications by authors named "C Ciccacci"
Primary Sjögren's syndrome (pSS) is a chronic, systemic autoimmune disease characterized by a wide spectrum of glandular and extra-glandular features. Genetic and epigenetic factors play an important role in the disease susceptibility and phenotype. There are a multitude of genes that have been identified as implicated in the pathogenesis of pSS, both in HLA and extra-HLA regions with a strong contribution given by genes in interferon signalling pathways.
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- Systemic lupus erythematosus (SLE) is a chronic autoimmune disease tied to oxidative stress, which affects mitochondrial DNA (mtDNA) levels and their homeostasis.
- The study analyzed mtDNA copies and gene expression related to mitochondrial functions in blood cells from SLE patients and healthy individuals, finding significantly lower mtDNA copies and reduced expression of key mitochondrial genes in patients.
- A positive correlation was identified between the expression of the PRKN2 gene and mtDNA copy number, highlighting the potential link between mitochondrial dysfunction and SLE progression.
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- - The study explored lncRNAs (long non-coding RNAs) as potential biomarkers to predict how well Psoriatic arthritis (PsA) patients respond to treatment, focusing on their expression profiles in relation to drug effectiveness.
- - Researchers analyzed 48 treated PsA patients over 12 months and found significant differences in the expression levels of specific lncRNAs between those who responded to treatment and those who didn't, particularly for treatments with TNFi and IL17i.
- - The results suggest that the lncRNA MEG3 may be linked to treatment response and may also have a dose-dependent impact on disease activity, indicating its potential importance in tailoring treatment strategies for PsA patients.
Article Synopsis
- The study explores the link between a specific genetic variant (rs11568820) in the vitamin D receptor (VDR) gene and the effectiveness of anti-TNF therapy in patients with rheumatoid arthritis (RA).
- Researchers evaluated 178 Italian RA patients, observing that those carrying the variant allele of the VDR gene had a lower rate of remission after 52 and 104 weeks of treatment.
- The findings indicate that genetic variations in the VDR may influence how well patients respond to anti-TNF drugs, highlighting the importance of personalizing RA treatment based on genetic factors.
The identification of rare genetic variants associated to Systemic Lupus Erythematosus (SLE) could also help to understand the pathogenic mechanisms at the basis of the disease. In this study we have analyzed a cohort of 200 Italian SLE patients in order to explore the rare protein-coding variants in five genes (TNFAIP3, STAT4, IL10, TRAF3IP2, and HCP5) already investigated for commons variants found associated in our previous studies. Genomic DNA of 200 SLE patients was sequenced by whole exome sequencing.
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