Publications by authors named "G Lunazzi"
Article Synopsis
- Late-onset Pompe Disease (LOPD) is a rare genetic disorder caused by a deficiency in an enzyme, leading to muscle damage and glycogen accumulation in cells.
- This study used advanced techniques like single nuclei RNA sequencing to explore gene expression changes in muscle biopsies from LOPD patients compared to healthy controls, revealing significant metabolic shifts and inflammatory responses in affected fibers.
- Findings suggest potential benefits of enzyme replacement therapy in restoring metabolic function, especially in healthy muscle fibers, emphasizing the importance of using modern methods to understand muscle disease at a cellular level.
Article Synopsis
- Palatine tonsils act as primary defenders in our immune system against diseases we inhale or ingest, and researchers created a detailed map of the human tonsil, analyzing over 556,000 cells using various techniques.
- They discovered 121 distinct cell types, traced their development, and outlined how different immune functions are organized within the tonsils.
- The study's findings included identifying specific cell subtypes and regulatory factors, validating their results with age-related changes, and connecting the findings to understanding certain lymphomas, enhancing our knowledge of immune responses.
The ability of innate immune cells to respond to pathogen-associated molecular patterns across a wide range of intensities is fundamental to limit the spreading of infections. Studies on transcription responses to pathogen-activated TLRs have often used relatively high TLR ligand concentrations, and less is known about their regulation under mild stimulatory conditions. We had shown that the transcription factor NFAT5 facilitates expression of antipathogen genes under TLR stimulation conditions corresponding to low pathogen loads.
View Article and Find Full Text PDFToll-like receptors (TLRs) engage networks of transcriptional regulators to induce genes essential for antimicrobial immunity. We report that NFAT5, previously characterized as an osmostress responsive factor, regulates the expression of multiple TLR-induced genes in macrophages independently of osmotic stress. NFAT5 was essential for the induction of the key antimicrobial gene Nos2 (inducible nitric oxide synthase [iNOS]) in response to low and high doses of TLR agonists but is required for Tnf and Il6 mainly under mild stimulatory conditions, indicating that NFAT5 could regulate specific gene patterns depending on pathogen burden intensity.
View Article and Find Full Text PDFBackground: Inherited mtDNA depletion syndromes (MDS) are a group of severe mitochondrial disorders resulting from defects in nucleus-encoded factors and often associated with severe or fatal liver failure.
Patient: In this article, we describe the case of an 18-month-old patient with recurrent hypoketotic hypoglycaemia and fatal hepatic dysfunction with liver mtDNA depletion.
Methods: The assessment of mtDNA copy number was performed on leucocytes, liver and muscle biopsy by Quantitative Real Time PCR and total RNA from liver biopsy was used as a template to amplify the cDNA of the POLG1 gene.