Publications by authors named "Francesca Luisa Conforti"
This review explores the intricate landscape of neurodegenerative disease research, focusing on Amyotrophic Lateral Sclerosis (ALS) and the intersection of genetics and RNA biology to investigate the causative pathogenetic basis of this fatal disease. ALS is a severe neurodegenerative disease characterized by the progressive loss of motor neurons, leading to muscle weakness and paralysis. Despite significant research advances, the exact cause of ALS remains largely unknown.
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- ALS is a neurodegenerative disease leading to motor neuron loss in the brainstem and spinal cord, influenced by various genetic factors, including possible causal and risk-associated genes.
- The study focused on the impact of structural variants, particularly copy number variations (CNVs), in ALS patients, revealing that a significant number (87%) had multiple CNVs in genes linked to ALS.
- Higher CNV loads were associated with earlier disease onset and faster progression, suggesting that understanding CNVs could improve diagnosis and treatment strategies for ALS.
Article Synopsis
- - The study investigates hexanucleotide repeat expansions (RE) in genes associated with amyotrophic lateral sclerosis (ALS), particularly focusing on their frequency within the Italian population and their potential link to the disorder's clinical features.
- - Researchers screened 302 ALS patients and compared their RE distribution with that of 167 healthy controls, finding similar distributions but a moderate correlation between longer repeat lengths and certain clinical features such as age of onset and family history.
- - This research is the first of its kind in southern Italy, revealing that while REs are present, the rare pathogenic repeats do not show a significant association with ALS, contributing valuable insights to the genetic understanding of the disorder.
Article Synopsis
- * By overexpressing FoxO3a in TamR-BCCs, researchers found it reduced their oxygen consumption and glycolytic rates, lowering their metabolic activity and promoting glucose accumulation.
- * Proteomic analysis indicated that FoxO3a decreased levels of important enzymes related to carbohydrate metabolism, suggesting that drugs that activate FoxO3a could be beneficial for treating patients resistant to antiestrogen therapy.
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- The study explores how genetics, lifestyle, and health interact to influence individual disease susceptibility among adolescents.
- It identifies specific genetic variants linked to metabolic and inflammatory markers in a group of 77 healthy teens, finding significant associations with genes related to cholesterol metabolism and inflammation.
- The findings suggest that genetic profiling could play a crucial role in preventing and managing chronic diseases in young people.
Article Synopsis
- ALS is a serious neurodegenerative disease that progresses quickly and has very few treatment options, making timely diagnosis crucial.
- A study analyzed the transcriptome changes in skin fibroblasts from ALS patients, identifying 277 genes that could serve as potential diagnostic markers.
- Using these gene expressions, researchers developed a classifier that effectively distinguishes ALS patients from controls, demonstrating the importance of these molecular signatures for improving ALS diagnosis.
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- Glioblastoma multiforme (GBM) is a highly aggressive cancer with poor treatment outcomes, largely due to the presence of cancer stem cells that drive recurrence and resistance to therapy.
- A study found that using a combination of the γ-secretase inhibitor RO4929097 (to block the Notch signaling pathway) and resveratrol can transform GBM cells back to a less aggressive, epithelial-like state, which impacts their invasive properties and stemness.
- The involvement of cyclin D1 and CDK4 was crucial in this process, as altering these factors affected cell migration and could help develop new therapeutic strategies targeting CDK4 in treating GBM.
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- - Food is crucial for our health and well-being, with knowledge about it passed down through generations, influencing agricultural and culinary practices over time.
- - Changes in food systems have affected our gut microbiota, which plays a significant role in human health and is linked to conditions like obesity, cardiovascular disease, and cancer.
- - The review discusses how food system transformations relate to gut microbiota changes and suggests sustainable approaches to improve gut health and mitigate non-communicable diseases.
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- Adiponectin, a protein secreted by fat cells, is linked to the growth and spread of ERα-positive breast cancer by promoting cell proliferation and enhancing E-cadherin expression through the ERα/LKB1 complex.
- In lab cultures, adiponectin increases E-cadherin levels, which is crucial for cancer cell growth; when E-cadherin is silenced, the growth effects of adiponectin disappear.
- Adiponectin treatment leads to altered cell polarity as LKB1 and Cdc42 localize in the nucleus instead of working in the cytosol, resulting in greater breast cancer growth and increased metastasis in animal models.
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- * Research indicates that certain microRNAs (miRNAs) may be involved in ALS, showing stable expression differences between ALS patients and healthy individuals in various bodily fluids like blood and CSF.
- * A study identified specific miRNAs, particularly miR-132-5p, miR-132-3p, miR-124-3p, and miR-133a-3p, in the plasma of ALS-affected individuals as potential biomarkers for early disease progression, emphasizing their role in diagnostics and treatment development. *
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- Published studies on the impact of HFE polymorphisms on ALS (Amyotrophic Lateral Sclerosis) risk, phenotype, and survival remain inconclusive, prompting an evaluation of the p.H63D polymorphism in patients with -mutated ALS.
- The study involved 183 -mutated ALS patients, assessing mutation severity and conducting survival analyses using methods like Kaplan-Meier and Cox proportional hazards modeling.
- Results indicated that -mutated ALS patients with the p.H63D polymorphism had longer survival compared to non-carriers, regardless of factors like sex, age, and mutation severity, suggesting the polymorphism may influence disease progression.
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- Plant-derived bioactive compounds are becoming popular for their health benefits, especially in fighting cancer.
- This paper reviews the anti-cancer effects of three key compounds: resveratrol, epigallocatechin gallate, and curcumin.
- The focus is on how these compounds can induce apoptosis, or programmed cell death, in major cancer types, enhancing chemotherapy effectiveness while potentially reducing side effects.
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- * Long non-coding RNAs (lncRNAs), which are over 200 nucleotides long, are key players in gene and chromosomal expression regulation and have been linked to neurodegenerative diseases like Alzheimer's and Parkinson's.
- * The study of lncRNAs in the central nervous system may provide diagnostic and therapeutic insights, potentially paving the way for new treatments for currently incurable neurodegenerative disorders.
Article Synopsis
- Alzheimer's disease, Parkinson's disease, and Amyotrophic Lateral Sclerosis are neurodegenerative diseases marked by neuron degeneration and limited treatment options.
- Recent research has focused on microRNAs (miRNAs) due to their abnormal expressions and ability to influence various biological pathways in these diseases.
- The text discusses dysregulated miRNAs found in the bodily fluids and nervous tissue of patients, suggesting their potential as biomarkers and therapeutic targets, particularly through the use of antisense oligonucleotides.
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- * A review of 62 interventional clinical trials demonstrates how multi-omics approaches are being used for patient stratification, diagnosis, and drug evaluation in MNDs.
- * The growing application of omics sciences in MND research is poised to revolutionize diagnosis and treatment, necessitating substantial investments for effective personalized medicine evolution.
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- Amyotrophic lateral sclerosis (ALS) is a common motor neuron disease with unclear causes, and proper genetic classification is crucial for accurate diagnosis.
- This study focused on re-evaluating previously reported genetic variants using established ACMG-AMP criteria, leading to many variants being reclassified as likely pathogenic or pathogenic through new bioinformatics and functional analysis.
- Findings indicate a need for expert review of genetic data in complex diseases like ALS, emphasizing that while genetic classification can aid diagnosis, clinical assessment remains essential.
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- - This study investigates how genetic variations in specific genes affect lipid profiles and other health-related factors in a young, healthy population, emphasizing the significance of genetics in public health.
- - Researchers analyzed single nucleotide polymorphisms (SNPs) and found 26 significant associations impacting lipid metabolism, glycemic profiles, and body composition linked to genes like LPL, FNDC5, and PPARγ.
- - The findings not only confirmed previously known associations but also identified 24 new genetic variants related to lipid levels and body composition, highlighting the importance of genetic factors in health outcomes.
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- * A study using Next Generation Sequencing analyzed both sporadic and familial ALS patients with p.D91A mutations, uncovering unique genetic variants, including some with unclear significance.
- * The findings indicate a complex genetic background in ALS cases with p.D91A mutations, suggesting that detailed genomic analysis could enhance diagnosis and inform targeted treatments in precision medicine.
Article Synopsis
- Next Generation Sequencing (NGS) allows for the detailed analysis of RNA from various samples, enhancing our understanding of the transcriptomic profiles related to complex diseases such as neurodegenerative disorders.
- Amyotrophic Lateral Sclerosis (ALS), a neurodegenerative disease marked by the loss of motor neurons, often lacks specific diagnostic criteria, making biomarker research critical for quicker and more accurate diagnoses.
- This review focuses on the role of non-coding RNAs (like circRNAs, miRNAs, and lncRNAs) in ALS, emphasizing the need for further studies to identify these molecules as potential biomarkers for diagnosis and prognosis in ALS and related neurodegenerative diseases.
Article Synopsis
- * The renin-angiotensin system (RAS) plays a significant role in glioblastoma by promoting local estrogen production and enhancing tumor growth through Angiotensin II signaling.
- * Losartan, an RAS blocker, can counteract the negative effects of Ang II, including immunosuppression and increased local estrogen, suggesting it may be a useful addition to glioblastoma treatment strategies.
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- The olive tree and its oil play a significant role in Mediterranean history, representing a key agricultural product tied to cultural identity.
- Despite its importance, there is limited understanding of the evolutionary history of olives, especially in Algeria, which is recognized as a secondary center for olive diversification.
- The study analyzed 119 unique Algerian olive varieties and 103 from Sicily using genetic markers to explore genetic diversity and relationships, shedding light on the complex processes of olive cultivation in the Mediterranean.
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- Repeat expansions in the SCA1 gene are linked to an increased risk of ALS, as evidenced by a study of a large SCA1 family with both ALS and SCA1 patients showing similar symptoms.
- The research utilized a systems biology approach to analyze genomic data from ALS patients and SCA1 family members, identifying shared and unique genes and biological processes related to motor neuron deterioration.
- Findings revealed ALS-specific genetic variants in RNA metabolism-related genes, which suggest that disrupting RNA processes may play a key role in ALS development, highlighting the importance of personal genomic information in understanding complex diseases.