GeNeuro SA’s Post

Mitochondrial Unfolded Protein Response (Mtupr) Activation by Polydatin and Nicotinamide Corrects Pathological Alterations in Cellular Models of Gfm1 Mutations https://lnkd.in/e5jKfz9n

🌟 Exciting news! 🌟 I'm excited to share that my first first-author publication is finally out! In this study, we have discovered a novel regulatory role for the deubiquitinase USP7 in protecting the transcription factor TFEB from proteasome-mediated degradation. This work highlights the importance of USP7 in maintaining the stability of TFEB, which in turn preserves TFEB-mediated transcriptional responses and positively regulates autophagy and lysosomal biogenesis - processes critical for cellular health. Our findings may pave the way for novel therapeutic strategies targeting the USP7-TFEB axis, particularly in diseases characterized by TFEB dysregulation, including some cancers. Read the full paper for more details! 👇 https://lnkd.in/ewNMsGWQ Cell Reports by Cell Press #autophagy #lysosome #deubiquitination #USP7 #TFEB #metabolism Many thanks to all of my co-authors for making this work possible! David Rubinsztein, Mariella Vicinanza and Michael Takla

Exactly one week ago, the Nobel Assembly at Karolinska Institutet awarded the 2024 Nobel Prize in Physiology or Medicine to Victor Ambros and Gary Ruvkun for their revolutionary discovery of microRNAs and their vital role in gene regulation. 🎉 MicroRNAs are small non-coding RNAs that regulate gene expression by inhibiting the translation of proteins, influencing many biological processes. In 2013, we had already published a subset of miRNAs and their target genes with important roles in endometrial receptivity. Since then, we are building on this groundbreaking research to explore how miRNAs can be utilized as biomarkers and how are they regulating gene expression in key areas, including: Endometrial and ovarian disorders Aging and cellular changes Endometrial receptivity Gynecological cancers Maternal-Embryo communication Embryo development For more on our work involving miRNAs, check out our latest publications here: https://lnkd.in/dVEsJjUX

Parkinson’s disease (PD)-relevant protein pathological alpha-synuclein triggers disruption of proteostasis and subsequently augment global protein synthesis via activation of mTOR complex (mTORC1), leading to neurodegeneration in PD. Genetic and pharmacological inhibition of mTOR rescued pathologic alpha-synuclein-induced loss of dopamine neurons, behavioral abnormalities and aberrant biochemical signaling in sporadic PD-relevant alpha-synuclein pre-formed fibril mouse model and Drosophila transgenic model. Proud to be a part of this exciting study!

Genetics may influence the body's response to low oxygen: Researchers uncovered a fundamental mechanism that controls the body's response to limited oxygen and regulates blood vessel disease of the lung. Pulmonary arterial hypertension (PAH) is regulated by the effects of hypoxia on the endothelium, but how epigenetics and metabolism are involved has been unclear. Researchers showed that the long noncoding RNA histone lysine N-methyltransferase 2E-antisense 1 (KMT2E-AS1) and its protein binding partner KMT2E act in a positive feedback loop with HIF-2α to exacerbate PAH through epigenetic and metabolic changes. And confirmed that a gene variant in KMT2E was associated with PAH risk in several patient cohorts. Pharmacologically inhibiting the epigenetic changes in a rat model of PAH reversed pathology, suggesting that this pathway may be a promising target for diagnosis and treatment of PAH in humans. Submissions are open for the upcoming issue. You may submit case reports, case studies, and research or review papers. Submit to: editor.geneticsandheredity@journalmaples.org Follow our page: https://lnkd.in/dd-AwMD8 Visit us: https://lnkd.in/dhyieEcT (Source: internet) #Pulmonaryarterialhypertension #Hypoxia #Epigenetics #Metabolism #Pharmacology

'Here, we review our present understanding of the various pathways to cell death. The literature is extensive and, at times, confusing and even contradictory. As such, at the risk of missing certain advances, we have chosen to emphasize concepts that have been pressure-tested through a combination of biochemistry and genetics and are therefore likely to stand the test of time.' #Apoptosis #CellDeath #Ferroptosis https://lnkd.in/dkRcrBvB

Is it genes or environment? A question often asked by families and physicians when a patient presents with a suspected #raredisease, triggering years of often inconclusive diagnostic odyssey. Our #milestone study just out in Genetics in Medicine, presenting first demonstration of an accurate molecular biomarker for a prenatal exposure. Using #EpiSign technology to help diagnose patients with fetal valproate syndrome caused by prenatal exposure to #epilepsy medication Valproate. Stay tuned for similar publications for alcohol, diabetes, and other prenatal teratogens. #LHSC #moleculardiagnostics #epigenetics

🔬 Did you know? Pharmacogenomics sheds light on how variations in the CYP2C19 gene impact responses to medications! 💊 For instance, certain genetic variants can affect how individuals metabolize drugs like clopidogrel, a blood thinner used to prevent heart attacks and strokes. Understanding these genetic nuances helps enable tailored treatments for better patient outcomes! 🧬 #Pharmacogenomics #CYP2C19 #PersonalizedMedicine   Reference: Brown SA, Pereira N. Pharmacogenomic Impact of CYP2C19 Variation on Clopidogrel Therapy in Precision Cardiovascular Medicine. J Pers Med. 2018;8(1):8. doi:10.3390/jpm8010008.

Check out the latest study "Correlation of Atrial Natriuretic Peptide (ANP) Coding Gene (NPPA) and Human Hypertension" by Aseel Isam AL-Nuri and Sarab Daoud AL-Shamaa. Key Insights ANP Role: Atrial Natriuretic Peptide (ANP) regulates blood pressure by counteracting the renin-angiotensin-aldosterone system (RAAS). Study Design: Blood samples from 150 males (ages <20 to 55) were collected and divided into control, untreated hypertension, and treated hypertension groups. Findings: Hormone Levels: Significant differences in serum ANP concentrations across age groups, with notable variations between treated and untreated patients. Genetic Activity: Increased amplicon copy numbers of the NPPA gene in hypertensive patients, indicating a strong correlation with hypertension. Access the full study here. https://lnkd.in/dFHtmEn8 #Hypertension #ANP #Genetics #MedicalResearch #Healthcare #OpenAccess #Biology #UniversityOfMosul #Cardiology