Astroglial calcium signaling and homeostasis in tuberous sclerosis complex
This study investigates the intricate interplay between altered Ca2+ dynamics, mTOR pathway dysregulation, and cellular metabolism in astrocytes. The transcriptional profile of TSC patients revealed significant alterations in pathways associated with cellular respiration, ER and mitochondria, and Ca2+ regulation. TSC astrocytes exhibited lack of responsiveness to various stimuli, compromised oxygen consumption rate and reserve respiratory capacity underscoring their reduced capacity to react to environmental changes or cellular stress. Furthermore, our study revealed significant reduction of store operated calcium entry (S...
Source: Acta Neuropathologica - February 28, 2024 Category: Neurology Source Type: research
A large deletion in TSC2 causes tuberous sclerosis complex by dysregulating PI3K/AKT/mTOR signaling pathway
CONCLUSION: We confirmed the pathogenicity of the large deletion in TSC2 in a three- generations family.. Deletion of exon 4 of TSC2 affected cell proliferation, migration, and cell cycle via abnormal activation of the PAM pathway. This study evaluated the pathogenic effect of deletion of exon 4 of TSC2 and investigated the underlying mechanism.PMID:38412945 | DOI:10.1016/j.gene.2024.148312 (Source: Gene)
Source: Gene - February 27, 2024 Category: Genetics & Stem Cells Authors: Jiahui Fu Peili Liang Yingchun Zheng Cailing Xu Fu Xiong Fang Yang Source Type: research
A large deletion in TSC2 causes tuberous sclerosis complex by dysregulating PI3K/AKT/mTOR signaling pathway
CONCLUSION: We confirmed the pathogenicity of the large deletion in TSC2 in a three- generations family.. Deletion of exon 4 of TSC2 affected cell proliferation, migration, and cell cycle via abnormal activation of the PAM pathway. This study evaluated the pathogenic effect of deletion of exon 4 of TSC2 and investigated the underlying mechanism.PMID:38412945 | DOI:10.1016/j.gene.2024.148312 (Source: Gene)
Source: Gene - February 27, 2024 Category: Genetics & Stem Cells Authors: Jiahui Fu Peili Liang Yingchun Zheng Cailing Xu Fu Xiong Fang Yang Source Type: research
A child with TSC2/PKD1 contiguous gene deletion syndrome successfully treated with tolvaptan for rapidly enlarging renal cysts
AbstractTolvaptan, a vasopressin receptor antagonist, has been shown to be effective in the treatment of renal cysts in ADPKD. However, tolvaptan is not indicated for pediatric patients, and reports of its use are rare, making its efficacy and adverse reactions unclear. Herein, we present the case of an 11-year-old girl who had vitiligo from birth. She was diagnosed with West syndrome at 6 months of age and tuberous sclerosis at 2 years of age. At the age of 6 years, an abdominal magnetic resonance imaging (MRI) revealed multiple bilateral renal cysts, and she was diagnosed with ADPKD. Abdominal MRI scans performed at ...
Source: CEN Case Reports - February 27, 2024 Category: Urology & Nephrology Source Type: research
Treatment guidelines for rare, early-onset conditions associated with epileptic seizures: a literature review on Rett syndrome and tuberous sclerosis complex
CONCLUSIONS: This review highlights the need for the development of international high-quality and comprehensive consensus-based guidance for the management of seizures with pharmacological therapy in RTT and TSC.TRIAL REGISTRATION: Not applicable.PMID:38409029 | DOI:10.1186/s13023-023-02994-x (Source: Epilepsy Curr)
Source: Epilepsy Curr - February 26, 2024 Category: Neurology Authors: S Amin B Ruban-Fell I Newell J Evans K Vyas C Nortvedt R F Chin Source Type: research
Treatment guidelines for rare, early-onset conditions associated with epileptic seizures: a literature review on Rett syndrome and tuberous sclerosis complex
CONCLUSIONS: This review highlights the need for the development of international high-quality and comprehensive consensus-based guidance for the management of seizures with pharmacological therapy in RTT and TSC.TRIAL REGISTRATION: Not applicable.PMID:38409029 | PMC:PMC10895812 | DOI:10.1186/s13023-023-02994-x (Source: Epilepsy Curr)
Source: Epilepsy Curr - February 26, 2024 Category: Neurology Authors: S Amin B Ruban-Fell I Newell J Evans K Vyas C Nortvedt R F Chin Source Type: research
Treatment guidelines for rare, early-onset conditions associated with epileptic seizures: a literature review on Rett syndrome and tuberous sclerosis complex
CONCLUSIONS: This review highlights the need for the development of international high-quality and comprehensive consensus-based guidance for the management of seizures with pharmacological therapy in RTT and TSC.TRIAL REGISTRATION: Not applicable.PMID:38409029 | PMC:PMC10895812 | DOI:10.1186/s13023-023-02994-x (Source: Epilepsy Curr)
Source: Epilepsy Curr - February 26, 2024 Category: Neurology Authors: S Amin B Ruban-Fell I Newell J Evans K Vyas C Nortvedt R F Chin Source Type: research
Treatment guidelines for rare, early-onset conditions associated with epileptic seizures: a literature review on Rett syndrome and tuberous sclerosis complex
CONCLUSIONS: This review highlights the need for the development of international high-quality and comprehensive consensus-based guidance for the management of seizures with pharmacological therapy in RTT and TSC.TRIAL REGISTRATION: Not applicable.PMID:38409029 | PMC:PMC10895812 | DOI:10.1186/s13023-023-02994-x (Source: Epilepsy Curr)
Source: Epilepsy Curr - February 26, 2024 Category: Neurology Authors: S Amin B Ruban-Fell I Newell J Evans K Vyas C Nortvedt R F Chin Source Type: research
Treatment guidelines for rare, early-onset conditions associated with epileptic seizures: a literature review on Rett syndrome and tuberous sclerosis complex
Rett syndrome (RTT) and tuberous sclerosis complex (TSC) are two rare disorders presenting with a range of different epileptic seizures. Seizure management requires careful therapy selection, thereby necessita... (Source: Orphanet Journal of Rare Diseases)
Source: Orphanet Journal of Rare Diseases - February 26, 2024 Category: Internal Medicine Authors: S. Amin, B. Ruban-Fell, I. Newell, J. Evans, K. Vyas, C. Nortvedt and R. F. Chin Tags: Review Source Type: research
Tuberous sclerosis, a case of multiple organ involvement is reported
Asian J Surg. 2024 Feb 19:S1015-9584(24)00204-5. doi: 10.1016/j.asjsur.2024.01.150. Online ahead of print.NO ABSTRACTPMID:38378433 | DOI:10.1016/j.asjsur.2024.01.150 (Source: Asian Journal of Surgery)
Source: Asian Journal of Surgery - February 20, 2024 Category: Surgery Authors: Kai-Yun Mao Yuan-Chao Cao Zhi-Xian Tang Shen-Yu Zhu Source Type: research
Tuberous sclerosis, a case of multiple organ involvement is reported
Asian J Surg. 2024 Feb 19:S1015-9584(24)00204-5. doi: 10.1016/j.asjsur.2024.01.150. Online ahead of print.NO ABSTRACTPMID:38378433 | DOI:10.1016/j.asjsur.2024.01.150 (Source: Asian Journal of Surgery)
Source: Asian Journal of Surgery - February 20, 2024 Category: Surgery Authors: Kai-Yun Mao Yuan-Chao Cao Zhi-Xian Tang Shen-Yu Zhu Source Type: research
Hyperactive mTORC1 in lung mesenchyme induces endothelial cell dysfunction and pulmonary vascular remodeling
Lymphangioleiomyomatosis (LAM) is a progressive cystic lung disease caused by tuberous sclerosis complex 1/2 (TSC1/2) gene mutations in pulmonary mesenchymal cells, resulting in activation of the mechanistic target of rapamycin complex 1 (mTORC1). A subset of patients with LAM develop pulmonary vascular remodeling and pulmonary hypertension. Little, however, is known regarding how LAM cells communicate with endothelial cells (ECs) to trigger vascular remodeling. In end-stage LAM lung explants, we identified EC dysfunction characterized by increased EC proliferation and migration, defective angiogenesis, and dysmorphic endo...
Source: Journal of Clinical Investigation - February 15, 2024 Category: Biomedical Science Authors: Susan M. Lin, Ryan Rue, Alexander R. Mukhitov, Akansha Goel, Maria C. Basil, Kseniya Obraztsova, Apoorva Babu, Slaven Crnkovic, Owen A. Ledwell, Laura T. Ferguson, Joseph D. Planer, Ana N. Nottingham, Kanth Swaroop Vanka, Carly J. Smith, Edward Cantu III, Source Type: research
Identification of hub genes significantly linked to tuberous sclerosis related-epilepsy and lipid metabolism via bioinformatics analysis
ConclusionsOur research unveiled potential DELMRGs (ALOX12B, CBS, CPT1C and DAGLB) in TSE, which may provide new ideas for studying the psathogenesis of epilepsy. (Source: Frontiers in Neurology)
Source: Frontiers in Neurology - February 14, 2024 Category: Neurology Source Type: research
Prevention of epileptogenesis - are we there yet?
Curr Opin Neurol. 2024 Feb 13. doi: 10.1097/WCO.0000000000001256. Online ahead of print.ABSTRACTPURPOSE OF REVIEW: To review recent progress in preventing epileptogenesis in patients with epilepsy.RECENT FINDINGS: The recent success of epilepsy prevention and disease modification in tuberous sclerosis using simple EEG biomarkers to guide treatment initiation, and the identification of biomarkers to enrich the targeted patient population has made clinical trials of epilepsy prevention after acquired central nervous system (CNS) insults such as traumatic brain injury, stroke or infection both feasible and timely. Two such tr...
Source: Epilepsy Curr - February 12, 2024 Category: Neurology Authors: Matthias Koepp Eugen Trinka Wolfgang L öscher Pavel Klein Source Type: research
