Article
Endocrinology & Metabolism
Yeonho Son, Cheoljun Choi, Abhirup Saha, Ji-Hyun Park, Hyeonyeong Im, Yoon Keun Cho, Je Kyung Seong, Rayanne B. Burl, Elizabeth A. Rondini, James G. Granneman, Yun-Hee Lee
Summary: REEP6 plays an important role in beta-adrenergic signal transduction in adipocytes, involving the expression and trafficking of Adcy3. Genetic inactivation of REEP6 reduces energy expenditure, increases adiposity, and enhances susceptibility to obesity-related metabolic dysfunction.
METABOLISM-CLINICAL AND EXPERIMENTAL
(2022)
Article
Medicine, Research & Experimental
Meropi Toumba, Pavlos Fanis, Dimitrios Vlachakis, Vassos Neocleous, Leonidas A. Phylactou, Nicos Skordis, Christos S. Mantzoros, Maria Pantelidou
Summary: Severe early-onset obesity is often caused by single gene variations of the hypothalamic leptin-melanocortin system, with ADCY3 being a key genetic candidate. A new pathogenic variant was discovered through genomic sequencing, highlighting the potential impact on protein structure and function. These findings suggest the involvement of ADCY3 in the disease.
INTERNATIONAL JOURNAL OF MOLECULAR MEDICINE
(2022)
Article
Veterinary Sciences
Mateusz Sypniewski, Maciej Szydlowski
Summary: This study looked at the genes linked to obesity in humans and found a variant in the ADCY3 gene that is also associated with weight in Labrador Retriever dogs. These findings provide valuable information for canine obesity research.
VETERINARY SCIENCES
(2023)
Article
Biotechnology & Applied Microbiology
Shan-shan Yang, Yao He, Lin Xu, Yali Jin, Wei-sen Zhang, Chao-qiang Jiang, Kar Keung Cheng, Tai Hing Lam
Summary: Genome-wide association studies have identified the BDNF locus on chromosome 11 as the only SNP associated with both smoking behavior and body mass index in multiple populations. This study reveals a unique genetic predisposition to obesity in former smokers with certain BDNF SNPs, particularly in heavy smokers. Further research is needed to understand the underlying mechanisms of these associations.
Article
Clinical Neurology
Michael W. Lutz, Ornit Chiba-Falek
Summary: In this study, a bioinformatics pipeline was developed to prioritize short structural variants (SSVs), including insertions/deletions (indels), within late-onset Alzheimer's disease (LOAD) genome-wide association study (GWAS) regions based on their predicted effects on transcription factor (TF) binding. By using publicly available functional genomics data sources, including candidate cis-regulatory elements (cCREs) from ENCODE and single-nucleus (sn)RNA-seq data from LOAD patient samples, a total of 1581 SSVs were identified in candidate cCREs that disrupted 737 TF binding sites. The pipeline provides a way to prioritize non-coding SSVs and assess their potential effects on TF binding, and can be validated using disease models in future experiments.
ALZHEIMERS & DEMENTIA
(2023)
Article
Biochemistry & Molecular Biology
Idris Mohammed, Senthil Selvaraj, Wesam S. Ahmed, Tara Al-Barazenji, Ayat S. Hammad, Hajar Dauleh, Luis R. Saraiva, Mashael Al-Shafai, Khalid Hussain
Summary: The study identified two novel heterozygous variants in the MC4R gene associated with obesity and evaluated their functional impact. The variants destabilized the structure of the MC4R protein, leading to intracellular receptor retention and impaired downstream signaling pathways. In vitro analysis showed reduced cell surface receptor expression and impaired ligand binding activity, resulting in decreased cAMP production.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
(2023)
Review
Health Care Sciences & Services
Ahmad Bairqdar, Dinara Ivanoshchuk, Elena Shakhtshneider
Summary: The high prevalence of obesity and associated diseases worldwide is influenced by genetic predisposition and environmental factors. Variants in genes related to adipocyte function and metabolic abnormalities are examined in this review, focusing on the development of weight gain and visceral obesity.
JOURNAL OF PERSONALIZED MEDICINE
(2023)
Review
Physiology
Genevieve Marcelin, Emmanuel L. Gautier, Karine Clement
Summary: Obesity is a chronic and progressive condition that affects whole-body energy balance and is linked to the development of comorbidities. Fibrotic adipose tissue caused by obesity can lead to metabolic dysfunctions such as insulin resistance. Targeting inflammation or fibrosis deposition may help improve insulin resistance and glucose homeostasis in individuals with obesity.
ANNUAL REVIEW OF PHYSIOLOGY
(2022)
Article
Multidisciplinary Sciences
Marcin Kierczak, Nima Rafati, Julia Hoglund, Hadrien Gourle, Valeria Lo Faro, Daniel Schmitz, Weronica E. Ek, Ulf Gyllensten, Stefan Enroth, Diana Ekman, Bjorn Nystedt, Torgny Karlsson, Asa Johansson
Summary: Despite the success of genome-wide association studies, the genetic contribution to complex traits remains unexplained. This study analyzed whole-genome sequencing data to evaluate the impact of rare genetic variants on plasma proteins. The findings suggest that rare variants have a limited contribution to heritability but may play a role in precision medicine applications.
NATURE COMMUNICATIONS
(2022)
Article
Nutrition & Dietetics
Edward Archer, Carl J. Lavie
Summary: The etiology of obesity is complex, with various factors influencing its development. Current management strategies tend to be one-size-fits-all, failing to consider the different responses based on the etiologic status of each individual. Research suggests that there are two broad etiologic subtypes: acquired and inherited obesity, each requiring personalized management.
Article
Obstetrics & Gynecology
Marlena S. Fejzo, Kimber W. MacGibbon, Olivia First, Courtney Quan, Patrick M. Mullin
Summary: Whole-exome sequencing identified placenta and vomiting hormone GDF15 as the most likely cause of Hyperemesis Gravidarum.
BJOG-AN INTERNATIONAL JOURNAL OF OBSTETRICS AND GYNAECOLOGY
(2022)
Article
Clinical Neurology
Anna Karin Hedstrom, Nicole Brenner, Julia Butt, Jan Hillert, Tim Waterboer, Tomas Olsson, Lars Alfredsson
Summary: This study found that overweight/obesity in young adulthood interacts significantly with high EBNA-1 antibody levels, increasing the risk for multiple sclerosis. Furthermore, three-way interactions were present between HLA-DRB1*15:01, overweight/obesity at age 20 years, and each aspect of EBV infection.
NEUROLOGY-NEUROIMMUNOLOGY & NEUROINFLAMMATION
(2021)
Article
Multidisciplinary Sciences
Mauro Lucio Ferreira Souza Junior, Jaime Viana de Sousa, Joao Farias Guerreiro
Summary: This study used the gnomAD database to analyze nonsynonymous variants in the exons of the FTO gene. The findings suggest that these variants are probably not associated with BMI and obesity, but instead, with other diseases. Further functional studies are required to identify the role of these variants in disease genesis.
Article
Multidisciplinary Sciences
Daniel Beck, Eric E. Nilsson, Millissia Ben Maamar, Michael K. Skinner
Summary: This study reveals the role of environmental toxicants in promoting transgenerational disease in great grand-offspring rats and identifies exposure-specific differential DNA methylation regions. The findings suggest a complex interplay of environmental epigenetics and genetics in the development of disease susceptibility.
SCIENTIFIC REPORTS
(2022)
Article
Genetics & Heredity
Qi-Gen Xie, Peng Luo, Kai Xia, Zuo-Qing Li, Zhe Xu, Cheng Su, Chun-Hua Deng
Summary: 46,XY disorders of sex development (DSD) are complex genetic diseases with diverse phenotypes. Accurate genetic diagnosis is crucial for management and treatment. In this study, targeted next-generation sequencing (NGS) and whole-exome sequencing were used to investigate 74 patients with 46,XY DSD, resulting in a 37.8% diagnosis rate of pathogenic and/or likely pathogenic variants. Variants associated with steroid hormone synthesis and activation were found to be the main genetic causes of 46,XY DSD.
Article
Surgery
Xiao Du, Xiang-hui Fu, Lei Shi, Jian-kun Hu, Zong-guang Zhou, Zhong Cheng
Article
Oncology
Yan Tian, Jia Xu, Xiao Du, Xianghui Fu
Article
Surgery
Xiao Du, Xiang-hui Fu, Bo-qiang Peng, Rong Luo, Jian-kun Hu, Zhong Cheng
SURGERY FOR OBESITY AND RELATED DISEASES
(2018)
Article
Cell Biology
Liping Ma, Xiaoxue Yang, Rong Wei, Tinghong Ye, Jian-Kang Zhou, Maoyao Wen, Ruoting Men, Ping Li, Biao Dong, Lunxu Liu, Xianghui Fu, Heng Xu, Rami I. Aqeilan, Yu-Quan Wei, Li Yang, Yong Peng
CELL DEATH & DISEASE
(2018)
Article
Multidisciplinary Sciences
Yang Shu, Weihan Zhang, Qianqian Hou, Linyong Zhao, Shouyue Zhang, Jiankang Zhou, Xiaohai Song, Yan Zhang, Dan Jiang, Xinzu Chen, Peiqi Wang, Xuyang Xia, Fei Liao, Dandan Yin, Xiaolong Chen, Xueyan Zhou, Duyu Zhang, Senlin Yin, Kun Yang, Jianping Liu, Leilei Fu, Lan Zhang, Yuelan Wang, Junlong Zhang, Yunfei An, Hua Cheng, Bin Zheng, Hongye Sun, Yinglan Zhao, Yongsheng Wang, Dan Xie, Liang Ouyang, Ping Wang, Wei Zhang, Meng Qiu, Xianghui Fu, Lunzhi Dai, Gu He, Hanshuo Yang, Wei Cheng, Li Yang, Bo Liu, Weimin Li, Biao Dong, Zongguang Zhou, Yuquan Wei, Yong Peng, Heng Xu, Jiankun Hu
NATURE COMMUNICATIONS
(2018)
Article
Microbiology
Chao Dou, Jie Xiong, Yijun Gu, Kun Yin, Jinjing Wang, Yuehong Hu, Dan Zhou, Xianghui Fu, Shiqian Qi, Xiaofeng Zhu, Shaohua Yao, Heng Xu, Chunlai Nie, Zongan Liang, Shengyong Yang, Yuquan Wei, Wei Cheng
NATURE MICROBIOLOGY
(2018)
Article
Gastroenterology & Hepatology
Meilin Ma, Haixia Xu, Geng Liu, Jing Wu, Chunhua Li, Xiuxuan Wang, Sifan Zhang, Heng Xu, Shenggen Ju, Wei Cheng, Lunzhi Dai, Yuquan Wei, Yan Tian, Xianghui Fu
Article
Endocrinology & Metabolism
Haixia Xu, Xiao Du, Geng Liu, Shuang Huang, Wenya Du, Sailan Zou, Dongmei Tang, Chen Fan, Yongmei Xie, Yuquan Wei, Yan Tian, Xianghui Fu
MOLECULAR METABOLISM
(2019)
Review
Biochemistry & Molecular Biology
Sailan Zou, Qiyu Tong, Bowen Liu, Wei Huang, Yan Tian, Xianghui Fu
Article
Pharmacology & Pharmacy
Lin Gao, Xiaowu Dong, Weijuan Gong, Wei Huang, Jing Xue, Qingtian Zhu, Nan Ma, Weiwei Chen, Xianghui Fu, Xiang Gao, Zhaoyu Lin, Yanbing Ding, Juanjuan Shi, Zhihui Tong, Tingting Liu, Rajarshi Mukherjee, Robert Sutton, Guotao Lu, Weiqin Li
Summary: This study reveals the critical role of NLRP3 inflammasome and GSDMD activation-mediated pyroptosis in acinar cells, linking pancreatic necrosis and systemic inflammation in acute pancreatitis. Targeting pyroptosis signaling pathways holds promise for specific therapy for acute pancreatitis.
BRITISH JOURNAL OF PHARMACOLOGY
(2021)
Review
Chemistry, Multidisciplinary
Dongmei Tang, Qiuyan Tang, Huang Wei, Yuwei Zhang, Yan Tian, Xianghui Fu
Summary: Overnutrition poses risks for various diseases, and fasting has been extensively studied as a dietary intervention to combat overnutrition. Fasting has been shown to slow aging and protect against neurodegenerative diseases, metabolic disorders, and cancers in both animals and humans. It has the potential to delay aging and prevent/treat diseases with fewer side effects compared to chronic dietary interventions.
Review
Medicine, Research & Experimental
Rong Cao, Huimin Tian, Yu Zhang, Geng Liu, Haixia Xu, Guocheng Rao, Yan Tian, Xianghui Fu
Summary: T2DM is a rapidly growing epidemic metabolic disorder associated with various comorbidities and recent data suggest a connection between T2DM and COVID-19. T2DM is characterized by insulin resistance and beta cell dysfunction, and understanding signaling pathways related to T2DM can provide potential targets for therapy. This review provides an overview of the history of T2DM and signaling pathways, discusses the role and mechanism of key signaling pathways in the development of T2DM, and summarizes current therapeutic options.
Review
Physiology
Xiaoyan Li, Xiao Pan, Xianghui Fu, Yi Yang, Jianghua Chen, Weiqiang Lin
KIDNEY & BLOOD PRESSURE RESEARCH
(2019)
Article
Biochemistry & Molecular Biology
Qiu Sun, Yuehong Hu, Yijun Gu, Jiangkun Huang, Jun He, Lan Luo, Yi Yang, Shuo Yin, Chao Dou, Tianqi Wang, Xianghui Fu, Ling He, Shiqian Qi, Xiaofeng Zhu, Shengyong Yang, Xiawei Wei, Wei Cheng
SIGNAL TRANSDUCTION AND TARGETED THERAPY
(2019)
