Publications by authors named "R Rametta"
Background & Aims: Non-alcoholic fatty liver disease (NAFLD) is a multifactorial disorder resulting from genetic and environmental factors. Hyperferritinemia has been associated with increased hepatic iron stores and worse outcomes in patients with NAFLD. The aim of this study was to evaluate the prevalence of variants of iron-related genes and their association with hyperferritinemia, hepatic iron stores and liver disease severity in patients with NAFLD.
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- Increased fat in the body raises the risk of insulin resistance and type 2 diabetes, but the underlying mechanisms are not fully understood.
- Researchers found that a protein called PHLPP2 is elevated in fat cells of obese mice, which led them to create mice that lack this protein specifically in fat cells.
- These knockout mice had lower fat and better glucose control on a high-fat diet, suggesting that targeting PHLPP2 could improve metabolism by enhancing fat breakdown and increasing beneficial factors like adiponectin, which may help reduce obesity-related liver issues.
Background And Aims: The proprotein convertase subtilisin/kexin type 9 (PCSK9) plays a key role in cholesterol homeostasis, and its inhibition represents an effective therapy to lower low-density lipoprotein cholesterol (LDL-C) levels. In this study, we examined the impact of the PCSK9 rs11591147 loss-of-function (LOF) variant on liver damage in a multicenter collection of patients at risk of nonalcoholic steatohepatitis (NASH), in clinical samples and experimental models.
Methods: We considered 1874 consecutive individuals at risk of NASH as determined by histology.
The environment and the human genome are closely entangled and many genetic variations that occur in human populations are the result of adaptive selection to ancestral environmental (mainly dietary) conditions. However, the selected mutations may become maladaptive when environmental conditions change, thus becoming candidates for diseases. Hereditary hemochromatosis (HH) is a potentially lethal disease leading to iron accumulation mostly due to mutations in the gene.
View Article and Find Full Text PDFBackground: Naturally occurring variation in Membrane-bound O-acyltransferase domain-containing 7 (MBOAT7), encoding for an enzyme involved in phosphatidylinositol acyl-chain remodelling, has been associated with fatty liver and hepatic disorders. Here, we examined the relationship between hepatic Mboat7 down-regulation and fat accumulation.
Methods: Hepatic MBOAT7 expression was surveyed in 119 obese individuals and in experimental models.