4.7 Article

Single-Nucleotide Polymorphisms in Base-Excision Repair-Related Genes Involved in the Risk of an Occurrence of Non-Alcoholic Fatty Liver Disease

相关参考文献

注意:仅列出部分参考文献,下载原文获取全部文献信息。
Review Endocrinology & Metabolism

MAFLD: a multisystem disease

Rosaria Maria Pipitone et al.

Summary: Nonalcoholic fatty liver disease (NAFLD), affecting a significant portion of both general and dysmetabolic populations, is an emerging cause of chronic liver disease and its complications. A recently proposed name for this disease, Metabolic dysfunction-Associated Fatty Liver Disease (MAFLD), highlights the bidirectional interplay between fatty liver and metabolic alterations, and emphasizes the need to assess fatty liver independently from other causes of liver disease. The peculiarity of NAFLD/MAFLD lies in its association with not only liver-related events, but also extrahepatic events, particularly cardiovascular and cancer-related. This review summarizes the available evidence supporting NAFLD/MAFLD as a multisystemic disease and explores the potential mechanisms underlying its association with extrahepatic disorders.

THERAPEUTIC ADVANCES IN ENDOCRINOLOGY AND METABOLISM (2023)

Review Biochemistry & Molecular Biology

Genetic Polymorphisms and Diversity in Nonalcoholic Fatty Liver Disease (NAFLD): A Mini Review

Siti Aishah Sulaiman et al.

Summary: Nonalcoholic fatty liver disease (NAFLD) is a common liver disease with a wide spectrum of liver conditions. Genetic polymorphisms play a role in NAFLD's development and progression, but there are differences in findings between populations. Understanding the genetic contribution of NAFLD is important for tailored diagnosis and management.

BIOMEDICINES (2023)

Article Biochemistry & Molecular Biology

Excessive iron inhibits insulin secretion via perturbing transcriptional regulation of SYT7 by OGG1

Xingqi Zhao et al.

Summary: In this study, it was found that excessive iron inhibits insulin secretion and impairs beta cell function by downregulating Synaptotagmin 7 (SYT7). It was further discovered that 8-oxoguanine DNA glycosylase (OGG1) acts as an upstream regulator of SYT7, and this regulation is suppressed by excessive iron. Mice with Ogg1-null, iron overload, and db/db exhibit reduced insulin secretion, weakened beta cell function, and impaired glucose tolerance. Overexpression of SYT7 can rescue these phenotypes.

CELLULAR AND MOLECULAR LIFE SCIENCES (2023)

Review Medicine, General & Internal

What's New in the Treatment of Non-Alcoholic Fatty Liver Disease (NAFLD)

Marcin Kosmalski et al.

Summary: Non-alcoholic fatty liver disease (NAFLD) is a serious health problem with high incidence and consequences. This review evaluates recent studies on the treatment of NAFLD patients, including diet, physical activity, supplementation, surgery, and guidelines. The results show significant benefits of various diets, enrichment with selected food products or supplements, and moderate aerobic physical training. Therapeutic options include weight reduction drugs, drugs targeting insulin resistance or lipids, and drugs with anti-inflammatory or antioxidant properties. Dulaglutide and the combination of tofogliflozin with pioglitazone are also recommended. Based on the latest research, the authors suggest revising the therapeutic recommendations for NAFLD patients.

JOURNAL OF CLINICAL MEDICINE (2023)

Review Biochemistry & Molecular Biology

Investigating the Link between Ketogenic Diet, NAFLD, Mitochondria, and Oxidative Stress: A Narrative Review

Antonio Paoli et al.

Summary: With the global increase in obesity and metabolic syndrome, the prevalence of nonalcoholic fatty liver disease (NAFLD) has risen dramatically. NAFLD is currently the most common chronic liver disease, ranging from fat accumulation to more severe forms like nonalcoholic steatohepatitis (NASH) that can lead to cirrhosis and hepatocellular carcinoma. NAFLD is characterized by altered lipid metabolism and mitochondrial dysfunction, which worsens oxidative stress and inflammation, ultimately causing hepatocyte death and severe NAFLD. A ketogenic diet (KD), very low in carbohydrates (<30 g/die), has been shown to reduce oxidative stress and restore mitochondrial function. This review aims to analyze the evidence for the therapeutic role of KD in NAFLD, focusing on the interplay between mitochondria and the liver, the effects of ketosis on oxidative stress pathways, and the impact of KD on liver and mitochondrial function.

ANTIOXIDANTS (2023)

Article Nutrition & Dietetics

Added Fructose in Non-Alcoholic Fatty Liver Disease and in Metabolic Syndrome: A Narrative Review

Mattia Coronati et al.

Summary: Studies have found that fructose added to foods via high fructose corn syrup and sucrose could contribute to the onset and progression of NAFLD and MetS. Fructose affects liver function through multiple pathways, including inducing de novo lipogenesis, triggering endoplasmic reticulum stress and liver inflammation, reducing fatty acids oxidation, and increasing intestinal permeability. In addition, fructose intake is also associated with weight gain and hypertension.

NUTRIENTS (2022)

Article Genetics & Heredity

Association of APEX1 and XRCC1 Gene Polymorphisms With HIV-1 Infection Susceptibility and AIDS Progression in a Northern Chinese MSM Population

Bangquan Liu et al.

Summary: This study found that SNPs in APEX1 and XRCC1 genes were associated with susceptibility to HIV-1 infection and AIDS progression in MSM populations in northern China.

FRONTIERS IN GENETICS (2022)

Article Respiratory System

DNA repair in lung cancer: a large-scale quantitative analysis for polymorphisms in DNA repairing pathway genes and lung cancer susceptibility

Zexi Liao et al.

Summary: This study investigates the association between SNP in DNA repair pathway and lung cancer risk. The findings reveal certain SNPs that are associated with increased or decreased risk of lung cancer. Furthermore, there are variations in the risk-associated SNPs among different ethnicities and lung cancer subtypes.

EXPERT REVIEW OF RESPIRATORY MEDICINE (2022)

Review Pediatrics

Non-alcoholic fatty liver disease and childhood obesity

Meera Shaunak et al.

Summary: Non-alcoholic fatty liver disease (NAFLD) in children and adolescents is estimated to have a prevalence of 36.1% in the context of obesity, and is expected to increase with the global obesity epidemic. Early detection and treatment of NAFLD in childhood is crucial, with healthy eating and physical activity being the primary prevention and treatment strategies currently available.

ARCHIVES OF DISEASE IN CHILDHOOD (2021)

Article Medicine, Research & Experimental

The role of mitochondria dysfunction and hepatic senescence in NAFLD development and progression

Siarhei A. Dabravolski et al.

Summary: Senescence plays a crucial role in metabolic disorders and chronic inflammatory diseases, particularly in the development of NAFLD involving hepatocyte senescence. Mitochondria, as the main energy and ROS producing organelle, are central in accelerated senescence and disease development. The regulation of mitochondrial functions and genetic mutations are discussed as potential diagnostic markers and treatment targets for NAFLD, with advanced age being an independent risk factor.

BIOMEDICINE & PHARMACOTHERAPY (2021)

Article Biochemistry & Molecular Biology

A Novel Role for the DNA Repair Enzyme 8-Oxoguanine DNA Glycosylase in Adipogenesis

Sai Santosh Babu Komakula et al.

Summary: The BER glycosylase OGG1 plays a crucial role in modulating adipocyte differentiation and lipid accretion. Loss of OGG1 leads to increased fat accumulation in mice, while overexpression of OGG1 confers resistance to age- and diet-induced obesity. Mechanistically, changes in adipogenesis are associated with alterations in cellular PARylation, corresponding with OGG1 genotype.

INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES (2021)

Review Biochemistry & Molecular Biology

The Interplay between Insulin Resistance, Inflammation, Oxidative Stress, Base Excision Repair and Metabolic Syndrome in Nonalcoholic Fatty Liver Disease

Sylwia Ziolkowska et al.

Summary: NAFLD is a common chronic liver disorder which is often associated with type 2 diabetes and obesity. Metabolic syndrome is a key factor in the development of NAFLD, as it includes a range of conditions such as abdominal obesity, elevated blood triacylglycerol level, reduced high-density lipoprotein cholesterol level, increased blood pressure, and high fasting glucose.

INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES (2021)

Review Medicine, General & Internal

Association between APE1 rs1760944 and rs1130409 polymorphism with prostate cancer risk A systematic review and meta-analysis

Jinnian Liu et al.

Summary: The study suggests a significant association between APE1 gene polymorphisms (rs1760944 and rs1130409) and prostate cancer risk. Specifically, rs1760944 may be a protective factor while rs1130409 could be a risk factor for prostate cancer. The polymorphisms of APE1 genes could potentially be used for risk assessment in prostate cancer.

MEDICINE (2021)

Article Pharmacology & Pharmacy

The Contribution of Dietary Fructose to Non-alcoholic Fatty Liver Disease

Siyu Yu et al.

Frontiers in Pharmacology (2021)

Article Obstetrics & Gynecology

Genetic Polymorphisms in DNA Repair Gene APE1/Ref-1 and the Risk of Neural Tube Defects in a High-Risk Area of China

Xiuwei Wang et al.

Summary: The study found significant associations between three polymorphisms of APE1/Ref-1 and NTD subtypes, suggesting that APE1/Ref-1 may be a potential genetic risk factor for encephalocele in high-risk areas of NTDs in China.

REPRODUCTIVE SCIENCES (2021)

Article Gastroenterology & Hepatology

Combined effects of PNPLA3, TM6SF2 and HSD17B13 variants on severity of biopsy-proven non-alcoholic fatty liver disease

Rafael Paternostro et al.

Summary: Several genetic polymorphisms, including PNPLA3, TM6SF2, and HSD17B13, have been associated with severity of NAFLD. Incorporating these genetic risk factors into risk stratification models may improve predictive accuracy for severity of NAFLD and/or advanced fibrosis on liver biopsy.

HEPATOLOGY INTERNATIONAL (2021)

Review Biochemistry & Molecular Biology

The Role of Fatty Acids in Non-Alcoholic Fatty Liver Disease Progression: An Update

Aleksandra Hliwa et al.

Summary: Non-alcoholic fatty liver disease (NAFLD) is a major global public health problem characterized by alterations in hepatic lipid metabolism that can lead to serious liver complications. Mass spectrometry-based lipidomics platforms allow for in-depth analysis of lipid changes in NAFLD patients, focusing on alterations in long-chain and short-chain fatty acids levels as well as the expression of genes encoding lipid interconversion enzymes in the liver.

INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES (2021)

Article Virology

Genetic variants of APEX1 p.Asp148Glu and XRCC1 p.Gln399Arg with the susceptibility of hepatocellular carcinoma

Ahmad M. Saad et al.

Summary: This study revealed that the APEX1 p.Asp148Glu variant is associated with an increased risk of HCC, while the XRCC1 p.Gln399Arg variant provides protection against the development of HCC. Patients carrying these variants showed no significant differences in clinical and laboratory parameters.

JOURNAL OF MEDICAL VIROLOGY (2021)

Article Oncology

The Association of Polymorphisms in Base Excision Repair Genes with Ovarian Cancer Susceptibility in Chinese Women: A Two-Center Case-Control Study

Mingyao Zhang et al.

Summary: The study revealed that specific polymorphisms in the PARPI, hOGGI, and LIG3 genes may impact the risk of ovarian cancer, with certain variants of PARPI and hOGGI decreasing the risk, while a variant of LIG3 increasing the risk of developing ovarian cancer. Further research with larger and diverse populations is needed to confirm these findings.

JOURNAL OF CANCER (2021)

Review Gastroenterology & Hepatology

Mitochondrial oxidative injury: a key player in nonalcoholic fatty liver disease

Waleska Dornas et al.

AMERICAN JOURNAL OF PHYSIOLOGY-GASTROINTESTINAL AND LIVER PHYSIOLOGY (2020)

Article Medicine, Research & Experimental

High glucose induced endothelial cell reactive oxygen species via OGG1/PKC/NADPH oxidase pathway

Xiangrong Xie et al.

LIFE SCIENCES (2020)

Article Pediatrics

Prevalence of Nonalcoholic Fatty Liver Disease in Children with Obesity

Elizabeth L. Yu et al.

JOURNAL OF PEDIATRICS (2019)

Review Cell Biology

Role of Oxidative Stress in Pathophysiology of Nonalcoholic Fatty Liver Disease

Mario Masarone et al.

OXIDATIVE MEDICINE AND CELLULAR LONGEVITY (2018)

Article Clinical Neurology

The interplay between inflammation, oxidative stress, DNA damage, DNA repair and mitochondrial dysfunction in depression

Piotr Czarny et al.

PROGRESS IN NEURO-PSYCHOPHARMACOLOGY & BIOLOGICAL PSYCHIATRY (2018)

Review Pharmacology & Pharmacy

Role of mitochondria and mitochondria-targeted agents in non-alcoholic fatty liver disease

Thekkuttuparambil Ananthanarayanan Ajith

CLINICAL AND EXPERIMENTAL PHARMACOLOGY AND PHYSIOLOGY (2018)

Article Multidisciplinary Sciences

NEIL1 protects against aflatoxin-induced hepatocellular carcinoma in mice

Vladimir Vartanian et al.

PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA (2017)

Article Environmental Sciences

Genetic Variations in the Promoter of the APE1 Gene Are Associated with DMF-Induced Abnormal Liver Function: A Case-Control Study in a Chinese Population

Zhimin Tong et al.

INTERNATIONAL JOURNAL OF ENVIRONMENTAL RESEARCH AND PUBLIC HEALTH (2016)

Article Clinical Neurology

Association between single nucleotide polymorphisms of MUTYH, hOGG1 and NEIL1 genes, and depression

Piotr Czarny et al.

JOURNAL OF AFFECTIVE DISORDERS (2015)

Article Endocrinology & Metabolism

Parameters of oxidative stress, DNA damage and DNA repair in type 1 and type 2 diabetes mellitus

Lukáš Pácal et al.

ARCHIVES OF PHYSIOLOGY AND BIOCHEMISTRY (2011)

Article Gastroenterology & Hepatology

Hepatitis C virus induces oxidative stress, DNA damage and modulates the DNA repair enzyme NEIL1

Sampa Pal et al.

JOURNAL OF GASTROENTEROLOGY AND HEPATOLOGY (2010)

Review Biochemistry & Molecular Biology

Fructose consumption: potential mechanisms for its effects to increase visceral adiposity and induce dyslipidemia and insulin resistance

Kimber L. Stanhope et al.

CURRENT OPINION IN LIPIDOLOGY (2008)

Article Gastroenterology & Hepatology

Clinicopathological significance of oxidative cellular damage in non-alcoholic fatty liver diseases

S Seki et al.

HEPATOLOGY RESEARCH (2005)

Article Pharmacology & Pharmacy

Human DNA glycosylases involved in the repair of oxidatively damaged DNA

H Ide et al.

BIOLOGICAL & PHARMACEUTICAL BULLETIN (2004)