Search results for "PNPLA3"

showing 7 items of 17 documents

Caucasian lean subjects with non-alcoholic fatty liver disease share long-term prognosis of non-lean: Time for reappraisal of BMI-driven approach?

2021

[Objective] The full phenotypic expression of non-alcoholic fatty liver disease (NAFLD) in lean subjects is incompletely characterised. We aimed to investigate prevalence, characteristics and long-term prognosis of Caucasian lean subjects with NAFLD.

MaleDiseaseBody Mass IndexCohort StudiesLiver disease0302 clinical medicineNon-alcoholic Fatty Liver DiseaseAdult Body Mass Index Cohort Studies Fatty liver Female Humans Male Middle Aged Non-alcoholic Fatty Liver Disease Non-alcoholic steatohepatitis Prognosis Survival Rate Thinness Whitesnonalcoholic steatohepatitis2. Zero hunger0303 health sciencesFatty liverNASHGastroenterologyMiddle AgedPrognosis3. Good healthSurvival RateCohort030211 gastroenterology & hepatologyFemalemedicine.symptomAdultmedicine.medical_specialtySettore MED/12 - GASTROENTEROLOGIAdigestive systemWhite People03 medical and health sciencesThinnessNAFLDInternal medicinemedicineHumansPNPLA3030304 developmental biologyfatty liverbusiness.industryWhitesSettore MED/09 - MEDICINA INTERNAnutritional and metabolic diseasesmedicine.diseaseLean-NASHObesitydigestive system diseasesLean-OutcomesSteatohepatitisbusinessWeight gainBody mass index
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Identification of molecular pathophysiological mechanisms of non-alcoholic fatty liver disease (NAFLD)

2018

Alkohola neizraisītā taukaino aknu slimība (NATAS) ietver plaša spektra izmaiņas aknās: no pārmērīgas tauku uzkrāšanās līdz pat cirozei. NATAS ģenētiskās komponentes noteikšanai tika veikta visa genoma asociāciju pētījumus (GWAS). Polimorfismi Pnpla3 (I148M; rs738409) un Tm6sf2 (E167K; rs58542926) gēnos ir asociēti ar paaugstinātu lipīdu uzkrāšanos aknās. PNPLA3 I148M varianta proteīns pastiprināti uzkrājas uz šūnu tauku lodīšu virsmas, kas traucē tauku lodīšu normālu funkciju. Proteīna TM6SF2 167K variants izraisa proteīna nestabilitāti un ātrāku tā degradāciju. Tālākie pētījumi parāda, ka TM6SF2 ir saistīts ar aknu ļoti zema blīvuma lipoproteīnu (VLDL) veidošanu vai ekskrēciju. Izpratne p…

NATASInternal MedicineMedicinePNPLA3TM6SF2Medicīna
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The burden of hepatocellular carcinoma in non-alcoholic fatty liver disease: Screening issue and future perspectives

2019

In recent decades, non-alcoholic fatty liver disease (NAFLD) has become the most common liver disease in the Western world, and the occurrence of its complications, such as hepatocellular carcinoma (HCC), has rapidly increased. Obesity and diabetes are considered not only the main triggers for the development of the disease, but also two independent risk factors for HCC. Single nucleotide polymorphisms (such as PNPLA3, TM6SF2 and MBOAT7) are related to the susceptibility to the development of HCC and its progression. Therefore, an appropriate follow-up of these patients is needed for the early diagnosis and treatment of HCC. To date, international guidelines recommend the use of ultrasonogr…

OncologyHepatocellular carcinomaDiseaseReviewlcsh:ChemistryLiver disease0302 clinical medicineDisease ScreeningRisk FactorsMass ScreeningHCClcsh:QH301-705.5SpectroscopyFatty liverLiver NeoplasmsGeneral MedicineComputer Science Applications030220 oncology & carcinogenesisHepatocellular carcinoma030211 gastroenterology & hepatologyMiRNAmedicine.medical_specialtyMicro RNACarcinoma HepatocellularSingle-nucleotide polymorphismCatalysisTM6SF2Inorganic ChemistryDiabetes Complications03 medical and health sciencesDiabetes mellitusInternal medicineNAFLDmedicineAnimalsHumansObesityPhysical and Theoretical ChemistryMolecular BiologyPNPLA3Long non-conding RNAbusiness.industryOrganic Chemistrymedicine.diseasedigestive system diseasesLncRNAlcsh:Biology (General)lcsh:QD1-999businessTM6SF2Non-alcoholic fatty liver disease
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Mboat7 down-regulation by hyper-insulinemia induces fat accumulation in hepatocytes.

2020

Background: 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. MBOAT7 was acutely silenced by antisense oligonucleotides in C57Bl/6 mice, and by CRISPR/Cas9 in HepG2 hepatocytes. Findings: In obese individuals, hepatic MBOAT7 mRNA decreased from normal liver to steatohepatitis, independently of diabetes, inflammatio…

Research paperTGFβ Transforming Growth Factor BetaIntracellular SpaceCRISPR Clustered Regularly Interspaced Short Palindromic RepeatshHEPS Human HepatocytesMice0302 clinical medicineLPIAT1DAG Diacylglyceroli.p. Intraperitonealmedia_commonFatty AcidsGeneral Medicine3. Good health030220 oncology & carcinogenesisHOMA-IR homeostasis Model Assessment of Insulin ResistanceMPO morpholinolcsh:Medicine (General)medicine.medical_specialtyPE Phosphatidyl-EthanolamineNashGeneral Biochemistry Genetics and Molecular Biology03 medical and health sciencesTNFα tumor Necrosis Factor AlphaLDL Low Density LipoproteinsHyperinsulinismNAFLDSD Standard Dietmedia_common.cataloged_instanceHumansCPT1 Carnitine Palmitoyltransferase IPhosphatidylinositolGene SilencingEuropean unionVLDL Very Low Density Lipoproteinlcsh:RhHSC Human Hepatic Stellate Cellsmedicine.diseaseLipid MetabolismOA Oleic AcidCI Confidence IntervalMboat7 Membrane bound O-acyltransferase domain containing 7MCD methionine choline deficient diet030104 developmental biologyEndocrinologychemistryCDP Cytidine-DiphosphateFOXO1 Forkhead Box protein O1NAFLD nonalcoholic fatty liver diseaseSteatohepatitisBMI Body Mass IndexCL CardiolipinAcyltransferases0301 basic medicineAlcoholic liver diseaseCXCL10 C-X-C Motif Chemokine 10lcsh:Medicinechemistry.chemical_compoundNon-alcoholic Fatty Liver DiseaseIFG Impaired Fasting GlucoseAPOB Apolipoprotein BNonalcoholic fatty liver diseasePIP Phosphatidyl-Inositol-PhosphateSteatohepatitisqRT-PCR quantitative Real Time Polymerase Chain ReactionMice Knockoutlcsh:R5-920ORO Oil Red O StainingPI PhosphatidylinositolFatty liverTM6SF2 Transmembrane 6 Superfamily Member 2PhospholipidTAG TriglyceridesNASH Nonalcoholic SteatohepatitisLipogenesisLPA Lyso-Phosphatidic AcidPhosphatidylinositolSignal TransductionPS Phosphatidyl-SerinePA Palmitic AcidALD alcoholic liver diseasePC Phosphatidylcholinei.v. IntravenousFATP1 Fatty Acid Transport Protein 1Models BiologicalInternal medicinemedicineAnimalsNonalcoholic fatty liver diseasePPARα Peroxisome Proliferator-Activated Receptor alphaObesityG3P Glyceraldehyde-3-PhosphateSREBP1c Sterol Regulatory Element-Binding Protein 1HDL High Density Lipoproteinsbusiness.industryPI3K Phosphatidylinositol 3 KinaseMembrane ProteinsNHEJ Non-Homologues End JoiningPNPLA3 Patatin-like Phospholipase Domain-containing-3MTTP Microsomal Triglyceride Transfer ProteinLPIAT1 Lysophosphatidylinositol Acyltransferase 1TMC4 Transmembrane Channel-Like 4Disease Models AnimalGene Expression RegulationHepatocytesFOXA2 Forkhead Box A2mTOR mammalian target of RapamycinSteatosisInsulin ResistancebusinessPG Phosphatidyl-GlycerolFABP1 Fatty Acid-Binding Protein 1 FAS Fatty Acid SynthaseT2DM Type 2 Diabetes MellitusEBioMedicine
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RUOLO DEL POLIMORFISMO ILE148MET DEL GENE PNPLA3 NELLA STEATOSI ASSOCIATA ALLA IPOBETALIPOPROTEINEMIA FAMILIARE

2014

Settore MED/09 - Medicina InternaPNPLA3 STEATOSI IPOBETALIPOPROTEINEMIA
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Ruolo del gene PNPLA3 nella suscettibilità genetica della suscettibilità genetica della steatosi epatica

Settore MED/09 - Medicina Internagene PNPLA3
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IL28B and PNPLA3 Polymorphisms Affect Histological Liver Damage in Patients with Non-alcoholic Fatty Liver Disease.

2012

Background & Aims: Genetic background may affect liver damage in patients with non-alcoholic fatty liver disease (NAFLD). The main outcomes of the study were to assess whether IL28B rs12979860 and rs8099917 polymorphisms, together with PNPLA3 rs738409 C>G polymorphism, are associated with lobular inflammation and fibrosis, in NAFLD patients. Methods: One hundred sixty consecutive NAFLD patients were assessed by liver biopsy (Kleiner score); anthropometric, and biochemical and metabolic features were included. IL28B rs12979860 C>T, IL28B rs8099917 G>C, and PNPLA3 rs738409 C>G single nucleotide polymorphisms were tested. Results: Seventy-four (46.2%) patients had IL28B rs12979860 CC polymorph…

Univariate analysismedicine.medical_specialtyPathologySettore MED/12 - GastroenterologiaHepatologymedicine.diagnostic_testFatty liverliver fibrosiSingle-nucleotide polymorphismBiologySettore MED/08 - Anatomia Patologicamedicine.diseaseGastroenterologynonalcoholic fatty liver IL28B PNPLA3 PolymorphismsInterleukin 28BFibrosisInternal medicineLiver biopsyGenotypemedicinenafld liver biopsyHyperuricemia
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