Article
Biochemistry & Molecular Biology
Laeya Baldini, Anne Robert, Bruno Charpentier, Stephane Labialle
Summary: The eutherian-specific SNORD116 family of repeated box C/D snoRNA genes is believed to play a major role in Prader-Willi syndrome (PWS), and their molecular function has been further confirmed by analysis of eutherian orthologs in RNA target identification and function verification. There are extensive birth-and-death and conversion events in the history of SNORD116 gene, affecting the phylogenetic conservation along the gene sequence. Despite this, the standard snoRNA elements essential for RNA stability and protein association are highly conserved, supporting the hypothesis that SNORD116 generate genuine snoRNAs. In addition, SNORD116 has been shown to control the expression and splicing levels of certain mRNAs, revealing unexpected molecular links with Fragile X syndrome and autism spectrum disorders.
MOLECULAR BIOLOGY AND EVOLUTION
(2022)
Review
Cell Biology
Ursula White
Summary: White adipose tissue (WAT) expansion plays a crucial role in metabolic health, and impaired WAT expansion can lead to metabolic disorders. While increased hyperplasia is considered important for healthy WAT expansion, the role of adipogenesis remains debated. This mini-review will summarize recent developments and highlight the significance of WAT expansion in obesity and disease.
FRONTIERS IN CELL AND DEVELOPMENTAL BIOLOGY
(2023)
Article
Nutrition & Dietetics
Brittney Knott, Matthew A. Kocher, Henry A. Paz, Shelby E. Hamm, William Fink, Jordan Mason, Robert W. Grange, Umesh D. Wankhade, Deborah J. Good
Summary: This study demonstrated that Snord116(m+/p-) mice and mice with a deletion of both Snord116 alleles showed weight and fat loss on a high-fat/CLA diet, indicating that the genotype did not interfere with CLA actions. There were no changes in food intake or metabolic rate, and only moderate differences in exercise performance. RNA-seq and microbiome analyses identified hypothalamic mRNAs and differentially populated gut bacteria, supporting future mechanistic analyses.
Review
Biochemistry & Molecular Biology
Delf-Magnus Kummerfeld, Carsten A. Raabe, Juergen Brosius, Dingding Mo, Boris Skryabin, Timofey S. Rozhdestvensky
Summary: PWS is a neurogenetic disorder caused by the deletion of paternally imprinted genes on chromosome 15q11-q13, with mouse models playing a crucial role in understanding the syndrome's pathogenesis. Through murine models, the contribution of each affected gene to PWS has been unveiled, shedding light on the importance of non-protein coding genes in the locus.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
(2021)
Review
Biochemistry & Molecular Biology
Ranim Mahmoud, Virginia Kimonis, Merlin G. Butler
Summary: Prader-Willi syndrome (PWS) is a complex neurodevelopmental disorder caused by genetic abnormalities. The most common defect is a deletion of genetic material on chromosome 15. PWS is characterized by hyperphagia and food-seeking behavior, leading to obesity and associated health issues. Currently, there are no approved treatments for PWS, but various clinical trials are investigating potential therapeutic agents.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
(2023)
Review
Nutrition & Dietetics
Eva Erhardt, Denes Molnar
Summary: Prader-Willi syndrome is a complex genetic disorder that affects endocrine and neurologic systems, metabolism, and behavior. Current research focuses on dietary management and treatment to prevent excessive weight gain.
Article
Biochemistry & Molecular Biology
Matthew A. Kocher, Fenix W. Huang, Erin Le, Deborah J. Good
Summary: The smallest genomic region causing Prader-Willi Syndrome (PWS) deletes the non-coding RNA SNORD116 cluster, which may regulate NHLH2 expression by enhancing the stability of NHLH2 mRNA. In silico modeling also suggests that a single nucleotide variant (SNV) in NHLH2 mRNA could impact the interaction between NHLH2 and SNORD116, providing insight into the mechanism underlying PWS phenotypes.
HUMAN MOLECULAR GENETICS
(2021)
Article
Medicine, General & Internal
Jessica Latorre, Jordi Mayneris-Perxachs, Nuria Oliveras-Canellas, Francisco Ortega, Ferran Comas, Jose Manuel Fernandez-Real, Jose Maria Moreno-Navarrete
Summary: This study investigated the role of CDO1 gene expression in adipose tissue and found that higher CDO1 expression was associated with improved metabolic profiles, decreased fasting triglycerides and blood HbA1c levels, as well as gene expression markers of adipocyte function and inflammation in both visceral and subcutaneous adipose tissue.
Article
Medicine, General & Internal
Jesus Cobo, Ramon Coronas, Esther Pousa, Joan-Carles Oliva, Olga Gimenez-Palop, Susanna Esteba-Castillo, Ramon Novell, Diego J. Palao, Assumpta Caixas
Summary: The study found that patients with Prader-Willi Syndrome (PWS) had good awareness of the illness and medication effects, but lacked awareness of the social consequences of the disease. They were well aware of obesity/overweight and excessive appetite, but only mildly aware of excessive food intake. Insight was correlated with age and functionality, but not with BMI. PWS patients showed better insight into the illness compared to schizophrenia-spectrum patients, but similar awareness of medication effects and social consequences.
JOURNAL OF CLINICAL MEDICINE
(2021)
Review
Biochemistry & Molecular Biology
Claudia Camerino
Summary: The Oxytocin/Vasopressin system originated around 600 million years ago and regulates various physiological functions. Invertebrate models may be useful for studying functions of Oxytocin not related to pregnancy. Oxytocin affects uteri contractility, milk ejection, metabolism, energy homeostasis, skeletal muscle tonicity, and body temperature.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
(2021)
Review
Medicine, General & Internal
Marta Ramon-Krauel, Montse Amat-Bou, Mercedes Serrano, Antonio F. Martinez-Monseny, Carles Lerin
Summary: The gut microbiome plays an important role in Prader-Willi syndrome, with probiotic supplementation potentially improving metabolic and mental health aspects. Further research is needed to ensure the safety and efficacy of targeting the gut microbiome in individuals with Prader-Willi syndrome.
JOURNAL OF CLINICAL MEDICINE
(2021)
Article
Medicine, Research & Experimental
Jessica Latorre, Cristina Martinez, Francisco Ortega, Nuria Oliveras-Canellas, Francisco Diaz-Saez, Julian Aragones, Marta Camps, Anna Guma, Wifredo Ricart, Jose Manuel Fernandez-Real, Jose Maria Moreno-Navarrete
Summary: This study investigates the potential role of EGFR, ErbBs receptors and neuregulins in human adipose tissue physiology in obesity. The results show the association between adipose tissue ERBB2 and obesity, the relevance of EGFR on human adipogenesis, and suggest a possible adipogenic role of NRG2.
BIOMEDICINE & PHARMACOTHERAPY
(2022)
Article
Endocrinology & Metabolism
Munkh-Erdene Bayartai, Hannu Luomajoki, Gabriella Tringali, Roberta De Micheli, Graziano Grugni, Alessandro Sartorio
Summary: This study compared the spinal postures and mobility characteristics of patients with Prader-Willi syndrome, obese individuals, and normal-weight individuals. The results showed that patients with Prader-Willi syndrome exhibited greater thoracic kyphosis, less lumbar lordosis, and reduced lumbar and hip mobility compared to individuals with normal weight.
FRONTIERS IN ENDOCRINOLOGY
(2023)
Article
Medicine, General & Internal
David E. Godler, Ling Ling, Dinusha Gamage, Emma K. Baker, Minh Bui, Michael J. Field, Carolyn Rogers, Merlin G. Butler, Alessandra Murgia, Emanuela Leonardi, Roberta Polli, Charles E. Schwartz, Cindy D. Skinner, Angelica M. Alliende, Lorena Santa Maria, James Pitt, Ronda Greaves, David Francis, Ralph Oertel, Min Wang, Cas Simons, David J. Amor
Summary: The findings of this study suggest that screening for all chromosome 15 imprinting disorders using SNRPN methylation analysis is feasible, with 5 individuals identified out of 16,579 infants screened.
Article
Pharmacology & Pharmacy
Jessica Latorre, Aina Lluch, Francisco J. Ortega, Aleix Gavalda-Navarro, Ferran Comas, Samantha Moron-Ros, Amaia Rodriguez, Sara Becerril, Francesc Villarroya, Gema Fruhbeck, Wifredo Ricart, Marta Giralt, Jose Manuel Fernandez-Real, Jose Maria Moreno-Navarrete
Summary: The study found that lysozyme is highly expressed in adipose tissue of obese individuals, associated with chronic inflammation, adipose tissue inflammation, and metabolic disturbances. Knocking down the lysozyme gene in experimental models improved adipose tissue inflammation and reduced weight gain.
PHARMACOLOGICAL RESEARCH
(2021)
Article
Endocrinology & Metabolism
Emilie Steinbach, Davide Masi, Agnes Ribeiro, Patricia Serradas, Tiphaine Le Roy, Karine Clement
Summary: The study of the gut microbiome is crucial for understanding and treating metabolic diseases. While research on the fecal microbiome has provided valuable insights, relying solely on this may not be enough to draw comprehensive conclusions. The microbiome in the proximal part of the small intestine may play a significant role in metabolic regulation, but further exploration is needed due to limited accessibility.
METABOLISM-CLINICAL AND EXPERIMENTAL
(2024)
Article
Endocrinology & Metabolism
Evangelia Chavdoula, Vollter Anastas, Alessandro La Ferlita, Julian Aldana, Giuseppe Carota, Mariarita Spampinato, Burak Soysal, Ilaria Cosentini, Sameer Parashar, Anuvrat Sircar, Giovanni Nigita, Lalit Sehgal, Michael A. Freitas, Philip N. Tsichlis
Summary: This study reveals the important role of KDM2B in triple-negative breast cancer (TNBC). KDM2B affects cellular resistance to oxidative stress by regulating a network of genes and metabolic enzymes, in collaboration with ATF4 and MYC. Additionally, high expression of KDM2B is associated with poor prognosis in patients.
METABOLISM-CLINICAL AND EXPERIMENTAL
(2024)
Article
Endocrinology & Metabolism
Joongmin Kim, Hyeongsoo Kim, Sang Hyun Park, Yura Kang, Kyungdo Han, Sang-Hak Lee
Summary: This study aimed to investigate the optimal LDL-C level after statin therapy in individuals with intermediate cardiovascular risk. The results showed that achieving LDL-C levels <120 mg/dL after statin therapy could lower the event risk.
METABOLISM-CLINICAL AND EXPERIMENTAL
(2024)
Review
Endocrinology & Metabolism
Ze Chen, Li -Ping Xia, Lang Shen, Dan Xu, Yu Guo, Hui Wang
Summary: Accumulating evidence suggests that NAFLD has an intrauterine origin, with adverse prenatal environments and glucocorticoid exposure playing a crucial role in the developmental programming of fetal hepatic lipid metabolism. The offspring's glucocorticoid-insulin-like growth factor 1 (GC-IGF1) axis is programmed in utero, leading to postnatal catch-up growth and disrupted glucose and lipid metabolism, increasing susceptibility to NAFLD. Mismatch between intrauterine and postnatal environments can further disturb the programmed endocrine axes and accelerate the onset of NAFLD.
METABOLISM-CLINICAL AND EXPERIMENTAL
(2024)
Article
Endocrinology & Metabolism
Fuwen Zuo, Youzhao Wang, Xinlei Xu, Ruihao Ding, Wei Tang, Yu Sun, Xiaojie Wang, Yan Zhang, Jichao Wu, Yusheng Xie, Min Liu, Ziying Wang, Fan Yi
Summary: This study investigates the role of CCDC92 in the pathogenesis of diabetic kidney disease (DKD). The expression of CCDC92 was found to increase in kidney biopsies from patients with DKD and was correlated with glomerular lipid accumulation. Animal studies further confirmed the induction of CCDC92 in the kidney, particularly in podocytes, and the podocyte-specific deletion of Ccdc92 ameliorated podocyte injury and lipid deposition. CCDC92 was shown to promote podocyte lipotoxicity through ABCA1 signaling-mediated lipid homeostasis. Therefore, CCDC92 may serve as a potential biomarker of podocyte injury in DKD and targeting CCDC92 could be an innovative therapeutic strategy for DKD patients.
METABOLISM-CLINICAL AND EXPERIMENTAL
(2024)
Review
Endocrinology & Metabolism
Khanyisani Ziqubu, Phiwayinkosi Dludla, Sihle E. Mabhida, Babalwa U. Jack, Susanne Keipert, Martin Jastroch, Sithandiwe E. Mazibuko-Mbeje
Summary: The discovery and revival of brown adipose tissue (BAT) in adult humans have opened up new possibilities for treating obesity and metabolic diseases. BAT not only plays a role in generating heat, but also secretes signaling molecules known as batokines, which regulate overall metabolism. This review highlights the importance of BAT-derived metabolites in controlling thermogenesis, substrate metabolism, and other biological processes, as well as their potential to alleviate obesity and related metabolic complications.
METABOLISM-CLINICAL AND EXPERIMENTAL
(2024)