Browsing by Author "Zacconi Flavia, Cristina Milagro"

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    Liver magnetic resonance spectroscopy as an alternative for evaluating Niemann-Pick C disease progression
    (ROYAL SOC CHEMISTRY, 2025) Carvalho Da Silva, Xavier Aline; Oyarzun Isamitt, Juan Esteban; Zacconi Flavia, Cristina Milagro; Zanlungo Matsuhiro, Silvana; Andia Kohnenkampf, Marcelo Edgardo
    Niemann-Pick disease (NP) is a group of rare genetic disorders that affect normal lipid metabolism and cause an accumulation of lipids in the liver, spleen, brain, and bone marrow. NP patients develop brain alterations and a very fast progression of liver damage. The purpose of this study is to characterize the changes in liver lipid composition during the progression of this disease using ex vivo magnetic resonance spectroscopy (MRS) in mouse models with the aim of identifying potential biomarkers to support a future non-invasive technique to follow-up these patients. NP type C (NPC) and wild-type (WT) mice were fed a chow diet and euthanized at 5 weeks of age (n = 5 per group) and 9 weeks of age (n = 5 per group). We extracted lipids from their livers and analyzed them with Gas Chromatography-Mass Spectrometry (GC-MS) and MRS. With the GC-MS analysis, 7 main fatty acids (FA) and cholesterols were quantified. Using MRS, we identified 5 metabolite peaks that correspond to FA only, 3 peaks that correspond to cholesterol only, and 2 peaks that correspond to FA and cholesterol. Our results show that the increase in liver cholesterol is the key biomarker for liver damage in NPC, which is consistent with a bad liver disease prognosis due to the association of increased cholesterol levels and liver inflammation. Additionally, we identified a difference in the pool of FA stored in the NPC compared to the WT mouse livers. Those different liver spectra could provide potential biomarkers for the non-invasive follow-up of NPC patients.
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    Sex differences in the relationship between body composition and MASLD progression in a murine model of metabolic syndrome
    (Elsevier Inc., 2025) Manjarrés Madrid, Laura; Xavier, Aline; Gonzalez Jara, Leticia Andrea; Garrido Ahumada, Camila Florencia; Zacconi Flavia, Cristina Milagro; Rivera K.; Parra L.; Phinikaridou A.; Besa Correa, Cecilia; Andía Kohnenkampf, Marcelo Edgardo
    Metabolic dysfunction-associated steatotic liver disease (MASLD) progression exhibits significant sex differences, with males generally developing more severe disease. This study used an endothelial nitric oxide synthase knockout (eNOS KO) murine model to investigate sex-specific MASLD progression under a Western diet intervention. Magnetic resonance imaging (MRI) assessed body composition and liver and skeletal muscle fat fraction, revealing greater visceral fat, liver volume, and liver-to-muscle fat ratios in males. Dimensionality reduction and clustering analyses identified distinct sex-specific MASLD phenotypes and progression patterns. Histological evaluations confirmed greater liver damage in males, evidenced by higher MAFLD Activity Scores. These findings highlight the critical role of sex as a biological variable in MASLD pathology and emphasize the influence of body composition and fat distribution on disease progression. The study underscores the utility of advanced imaging and analytical techniques for refining non-invasive diagnostics and guiding sex-specific interventions, paving the way for personalized MASLD management strategies.