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https://lnkd.in/g86j-FtF Article title: Maturity Onset Diabetes of the Young: A Rare Monogenic Form of Diabetes   Author(s): Mini Kallarackal   Journal: International Journal of Clinical Endocrinology and Metabolism   Journal ISSN: 2640-7582 Abstract: Diabetes Mellitus is a group of metabolic disorders associated with microvascular and macrovascular complications. The rapidly increasing prevalence and incidence of this disease is causing a major worldwide health problem. Maturity onset diabetes of the young (MODY) is a rare monogenic form of diabetes resulting from mutation in a single gene. There are 13 types of MODY genes identified currently. The two main types of MODY is caused by mutations in the hepatocyte nuclear factor 1A and glycolytic enzyme glucokinase (GCK). Genetic testing is the gold standard for diagnosing MODY. It is essential to identify the MODY subtype to determine the management and treatment options. #EndocrineGlands #Hormones #HormoneMetabolism #StructureAndPhysiochemicalProperties #HormonalReceptors #SignalingMechanisms #HormoneRegulatedGeneExpression #IntracellularSteroidAndLipidMetabolism #BoneAndMineralMetabolism #Infertility #Peertechz #PeertechzPublications #SexualDifferentiation #Puberty #PediatricEndocrinology #EndocrinePharmacology #MolecularEndocrinology #GastrointestinalEndocrinology #Neuroendocrinology #ComparativeEndocrinology #CardiovascularEndocrinology #ReproductiveEndocrinology

Alterations in human gene TRPC5 cause obesity and postpartum depression Researchers have discovered that alterations in the human gene TRPC5 cause obesity and postpartum depression. Taken together, their studies in cells, animal models and humans showed that TRPC5 acts on distinct neuronal populations in the hypothalamus, a brain region that regulates multiple innate behaviors including feeding, anxiety, socialization and maternal care. The findings, published in the journal Cell, identify TRPC5 as a diagnostic marker of obesity and postpartum depression as well as potential therapeutic strategies to treat these conditions. “Our investigation into the role of TRPC5 in obesity and postpartum depression began with the finding that the X chromosomes of two unrelated boys with intense food-seeking behavior, severe obesity and other altered behaviors were missing a small piece that included this gene,” said a co-corresponding author. “Their mothers had obesity, anxiety and postpartum depression. We found that they were carriers – one of their two X chromosomes was missing the TRPC5 gene.” #ScienceMission #sciencenewshighlights https://lnkd.in/g8rs7Drc

Zinc is a micronutrient integral to various physiological processes related to growth and immune function. Zinc deficiency is common among pregnant women and has long been associated with growth and developmental disruptions in their fetuses. Our study examined the impact of combined maternal and paternal zinc deficiency on the metabolic outcomes and gene expression in offspring. Offspring from zinc-deficient parents showed increased body weight and zinc levels, disrupted glucose metabolism, altered lipid homeostasis, and reduced antioxidant enzyme activity. Read the full article here https://lnkd.in/diFCzNG9

The summary of genes where altered DNA methylation was described in the offspring as a result of modified individual nutrient intake of the mother during pregnancy in the different tissues. Pparα, Peroxisome proliferator-activated receptor alpha; LXRα, Liver X receptor alpha; G6PC, glucose-6-phosphatase gene; Fgf21, Fibroblast growth factor 21; Ppargc1β, Peroxisome proliferator-activated receptor gamma coactivator 1-beta; VWF, von Willebrand factor; Ephb2, Ephrin type-B receptor 2; Irs2, Insulin Receptor Substrate 2; Map2k4, mitogen-activated protein kinase 4; Drd1, Dopamine receptor D1 ; Igf2, Insulin-like growth factor 2; Grb10, Growth factor receptor-bound protein 10; MEG3, Maternally Expressed 3. Bokor S, Csölle I, Felső R, Vass RA, Funke S, Ertl T, Molnár D. Dietary nutrients during gestation cause obesity and related metabolic changes by altering DNA methylation in the offspring. Front Endocrinol (Lausanne). 2024 Feb 20;15:1287255. doi: 10.3389/fendo.2024.1287255. PMID: 38449848; PMCID: PMC10916691. #Gesundheit #Bildung #Fuehrung #Coaching #Mindset #Motivation #Gehirn #Neuroscience #Psychologie #Persoenlichkeitsentwicklung #Kindheit #KeyNoteSpeaker #Humangenetik #Biochemie #Neuroleadership #Ernaehrung #Transformation #Stress #Demografie #Gender #Age #interkulturelleKompetenz #Epigenetik #Veraenderung #EmotionaleIntelligenz #Change #Gesellschaft #Organisationsentwicklung #Philosophie #Beratung # Quantum

Stoke Therapeutics’ treatment for Dravet syndrome — a rare, genetic epilepsy that begins in infancy — helped reduce seizures in an early-stage study... By targeting the "CAUSE", instead of just treating the symptoms, Stoke’s goal is to tackle the underlying genetic cause of Dravet syndrome, which is the insufficient expression of a sodium channel protein. Currently, available medicines just treat the seizure symptoms. This approach led to “clinically meaningful” improvements in cognition and behavior compared to a natural history study. This was achieved with the experimental medicine, STK-001, a short nucleotide strand that essentially “stokes” a still functional copy of the gene to make more of that sodium channel protein. Next, Stoke plans to run a registrational study, which could be used for FDA approval. Congratulations Stoke Therapeutics and CEO Ed Kaye for these hopeful developments! #GeneTherapy!

Study finds youth-onset diabetes is a genetically distinct form of the disorder; "Researchers suggest diabetes exists in multiple forms on a spectrum of varying genetic factors and symptoms."; "The diabetes field has long classified the disorder into genetically distinct groups, including type 1 and type 2. However, new genetics research focused on a form of type 2 diabetes (T2D) that is becoming more common in adolescents suggests a more complicated picture. Researchers at the Broad Institute of MIT and Harvard, Boston Children's Hospital, and Harvard Medical School analyzed DNA from more than 3,000 T2D participants between 12 and 18-years-old and nearly 9,800 adult controls, more than three-quarters of whom were of African American or Hispanic ancestry. They found that youth-onset T2D is a genetically intermediate form of the disorder that lies on a spectrum between adult-onset T2D and rare forms of the disorder caused by a single gene."; By Claire Hendershot, February 16, 2024, Broad Institute: https://lnkd.in/evswyqzu

How We Treat Primary Hyperoxaluria Type 1 Primary hyperoxaluria is a family of rare, autosomal recessive disorders. This article emphasizes the utility of genetic testing in routine diagnostic evaluation of patients suspected of having primary hyperoxaluria and at-risk family members Clinical Journal of the American Society of Nephrology 19(6):p 800-802, June 2024. DOI: 10.2215/CJN.0000000000000460

Asians have more side effects to antidepressants. On reason: 20-40% metabolize them slower in the liver. The enzyme associated with the slower metabolism of antidepressants in some Asian populations is primarily CYP2C19 (Cytochrome P450 2C19). CYP2C19 is a liver enzyme that plays a significant role in the metabolism of various medications, including certain antidepressants. Genetic variations in the CYP2C19 gene can lead to differences in how individuals metabolize these drugs. People with certain genetic variants of CYP2C19 are known as “poor metabolizers,” meaning they break down these medications more slowly. This slower metabolism can result in higher concentrations of the medication in the body for a longer period, potentially increasing the risk of side effects. Desvenlafaxine (Pristiq) isn't metabolized there, which may explain why it was better tolerated than duloxetine (Cymbalta) in this large 2023 trial from China: https://lnkd.in/gAv9xrfW Here's more on ethnicity, genetic testing, and antidepressant response: https://lnkd.in/gsjTvHi6

Pseudohypoparathyroidism Explained: Symptoms, Causes, and Treatment By: Ayman Al Sabha. In this short video, I humbly explore pseudohypoparathyroidism, a rare and often misunderstood condition. We’ll cover the key symptoms, causes, and treatment options, hoping to shed some light on this complex disorder. I invite you to watch and learn with me, and if you find the information helpful, please feel free to like and share it to help spread awareness. For those interested in further reading, here are some valuable references: 1. Mantovani, G., & Spada, A. (2020). Pseudohypoparathyroidism: Clinical aspects and treatment. *Endocrine*, 70(3), 479-488. 2. Linglart, A., & Levine, M. A. (2018). Diagnosis and management of pseudohypoparathyroidism and related disorders: First International Consensus Statement. *Endocrine Reviews*, 39(6), 671-704. 3. Thiele, S., & Werner, R. (2019). Pseudohypoparathyroidism: Molecular genetics and epigenetics. *Journal of Inherited Metabolic Disease*, 42(2), 184-193. 4. Bastepe, M., & Jüppner, H. (2020). GNAS locus and pseudohypoparathyroidism: New insights into complex gene regulation and its implications for disease. *Journal of Clinical Endocrinology & Metabolism*, 105(8), 2728-2740. Thank you for watching and supporting the spread of knowledge. #Pseudohypoparathyroidism #Endocrinology #PatientCare #m42 #Awareness #ICLDC

This review examines the genetic and epigenetic regulation of inflammasomes, the intersection of macrophage cholesterol accumulation with inflammasome activation and their roles in atherosclerosis 🔗 https://lnkd.in/dUdarUXJ #AtherosclerosisJournal #ATHJournal