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Tuberous Sclerosis Complex

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https://www.readbyqxmd.com/read/28646232/inhibition-of-erk1-2-restores-gsk3%C3%AE-activity-and-protein-synthesis-levels-in-a-model-of-tuberous-sclerosis
#1
Rituraj Pal, Vitaliy V Bondar, Carolyn J Adamski, George G Rodney, Marco Sardiello
Tuberous sclerosis (TS) is a multi-organ autosomal dominant disorder that is best characterized by neurodevelopmental deficits and the presence of benign tumors. TS pathology is caused by mutations in tuberous sclerosis complex (TSC) genes and is associated with insulin resistance, decreased glycogen synthase kinase 3β (GSK3β) activity, activation of the mammalian target of rapamycin complex 1 (mTORC1), and subsequent increase in protein synthesis. Here, we show that extracellular signal-regulated kinases (ERK1/2) respond to insulin stimulation and integrate insulin signaling to phosphorylate and thus inactivate GSK3β, resulting in increased protein synthesis that is independent of Akt/mTORC1 activity...
June 23, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28643795/the-genomic-landscape-of-tuberous-sclerosis-complex
#2
Katie R Martin, Wanding Zhou, Megan J Bowman, Juliann Shih, Kit Sing Au, Kristin E Dittenhafer-Reed, Kellie A Sisson, Julie Koeman, Daniel J Weisenberger, Sandra L Cottingham, Steven T DeRoos, Orrin Devinsky, Mary E Winn, Andrew D Cherniack, Hui Shen, Hope Northrup, Darcy A Krueger, Jeffrey P MacKeigan
Tuberous sclerosis complex (TSC) is a rare genetic disease causing multisystem growth of benign tumours and other hamartomatous lesions, which leads to diverse and debilitating clinical symptoms. Patients are born with TSC1 or TSC2 mutations, and somatic inactivation of wild-type alleles drives MTOR activation; however, second hits to TSC1/TSC2 are not always observed. Here, we present the genomic landscape of TSC hamartomas. We determine that TSC lesions contain a low somatic mutational burden relative to carcinomas, a subset feature large-scale chromosomal aberrations, and highly conserved molecular signatures for each type exist...
June 15, 2017: Nature Communications
https://www.readbyqxmd.com/read/28643793/genomic-rearrangements-in-sporadic-lymphangioleiomyomatosis-an-evolving-genetic-story
#3
Stephen J Murphy, Simone B Terra, Faye R Harris, Aqsa Nasir, Jesse S Voss, James B Smadbeck, Sarah H Johnson, Vishnu Serla, Jay H Ryu, Eunhee S Yi, Benjamin R Kipp, George Vasmatzis, Eva M Carmona
Sporadic lymphangioleiomyomatosis is a progressive pulmonary cystic disease resulting from the infiltration of smooth muscle-like lymphangioleiomyomatosis cells into the lung. The migratory/metastasizing properties of the lymphangioleiomyomatosis cell together with the presence of somatic mutations, primarily in the tuberous sclerosis complex gene (TSC2), lead many to consider this a low-grade malignancy. As malignant tumors characteristically accumulate somatic structural variations, which have not been well studied in sporadic lymphangioleiomyomatosis, we utilized mate pair sequencing to define structural variations within laser capture microdissected enriched lymphangioleiomyomatosis cell populations from five sporadic lymphangioleiomyomatosis patients...
June 23, 2017: Modern Pathology: An Official Journal of the United States and Canadian Academy of Pathology, Inc
https://www.readbyqxmd.com/read/28638431/erzhi-pill%C3%A2-repairs-experimental-liver-injury-via-tsc-mtor-signaling-pathway-inhibiting-excessive-apoptosis
#4
Bu-Gao Zhou, Hai-Mei Zhao, Xiu-Yun Lu, Xin Wang, Yong Zou, Rong Xu, Hai-Yang Yue, Yi Liu, Zheng-Yun Zuo, Duan-Yong Liu
The present study aimed to investigate the mechanism of hepatoprotective effect of Erzhi Pill (EZP) on the liver injury via observing TSC/mTOR signaling pathway activation. The experimental liver injury was induced by 2-acetylaminofluorene (2-AAF) treatment combined with partial hepatectomy (PH). EZP treated 2-AAF/PH-induced liver injury by the therapeutic and prophylactic administration. After the administration of EZP, the activities of aspartic transaminase (AST), alanine aminotransferase (ALT), alkaline phosphatase (AKP), and gamma-glutamyl transpeptidase (γ-GT) were decreased, followed by the decreased levels of hepatocyte apoptosis and caspase-3 expression...
2017: Evidence-based Complementary and Alternative Medicine: ECAM
https://www.readbyqxmd.com/read/28637240/tfeb-activation-restores-migration-ability-to-tsc1-deficient-adult-neural-stem-progenitor-cells
#5
Alessandro Magini, Alice Polchi, Danila Di Meo, Giuseppina Mariucci, Krizia Sagini, Federico De Marco, Tommaso Cassano, Stefano Giovagnoli, Diego Dolcetta, Carla Emiliani
Tuberous sclerosis complex (TSC) is an autosomal dominant genetic disorder caused by mutations in either of two genes, TSC1 or TSC2, resulting in the constitutive activation of the mammalian target of rapamycin complex 1 (mTORC1). mTOR inhibitors are now considered the treatment of choice for TSC disease. A major pathological feature of TSC is the development of subependymal giant cell astrocytomas (SEGAs) in the brain. Nowadays, it is thought that SEGAs could be a consequence of aberrant aggregation and migration of neural stem/progenitor cells (NSPCs)...
June 14, 2017: Human Molecular Genetics
https://www.readbyqxmd.com/read/28627597/significance-of-dynamic-changes-in-gastric-smooth-muscle-cell-apoptosis-pi3k-akt-mtor-and-ampk-mtor-signaling-in-a-rat-model-of-diabetic-gastroparesis
#6
Mo-Han Zhang, Jing-Zhi Jiang, Ying-Lan Cai, Li-Hua Piao, Zheng Jin
The aim of the present study was to investigate the significance of cell apoptosis, the phosphoinositide-3-kinase (PI3K)-protein kinase B (AKT)-mammalian target of rapamycin (mTOR) pathway, and the 5' adenosine monophosphate-activated protein kinase (AMPK)‑mTOR pathways in the process of diabetic gastroparesis. Changes in gastric smooth muscle cells of diabetic rats with induced gastroparesis were examined. The diabetic rat model was established by dividing animals into a normal control group and diabetic model groups examined at 2, 4 and 6 weeks...
June 13, 2017: Molecular Medicine Reports
https://www.readbyqxmd.com/read/28626124/two-cases-of-tuberous-sclerosis-complex-suggestive-of-complicating-multifocal-micronodular-pneumocyte-hyperplasia-a-case-report
#7
Chinatsu Nishida, Kazuhiro Yatera, Takashi Kido, Shingo Noguchi, Kentaro Akata, Minako Hanaka, Kei Yamasaki, Teppei Hoshino, Masayuki Shimono, Hiroshi Ishimoto, Noriho Sakamoto, Hiroshi Mukae
Multifocal micronodular pneumocyte hyperplasia (MMPH) is pathologically characterized by multifocal nodular hyperplasia of type Ⅱ pneumocyte-like cells. MMPH is usually complicated with tuberous sclerosis complex (TSC). MMPH patients tend to be asymptomatic or only slightly symptomatic. MMPH tends to progress slowly and needs no treatment. We herein describe two cases of MMPH with its characteristic radiological features and clinical manifestations of TSC. Case 1: a 20-year-old female with definitive TSC in infancy...
2017: Journal of UOEH
https://www.readbyqxmd.com/read/28623545/analysis-of-genotypes-and-phenotypes-in-chinese-children-with-tuberous-sclerosis-complex
#8
Dayong Bai, Junyang Zhao, Li Li, Jun Gao, Xu Wang
Tuberous sclerosis complex (TSC) is a neurocutaneous syndrome with serious clinical presentations, an autosomal dominant genetic disorder involving multiple organs and systems. We retrospectively investigated the clinical manifestations and genotypes of 20 Chinese children with TSC to enable informed diagnostic and surveillance recommendations in China. A retrospective analysis of clinical manifestations in 20 children (7.00±5.30 years old) with TSC was conducted. A genetic testing of the genes TSC1 and TSC2 was performed in 14 children...
June 14, 2017: Science China. Life Sciences
https://www.readbyqxmd.com/read/28616385/neurophysiological-evidence-of-preserved-connectivity-in-tuber-tissue
#9
H L Kaye, J M Peters, R Gersner, M Chamberland, A Sansevere, A Rotenberg
We present a case of preserved corticospinal connectivity in a cortical tuber, in a 10 year-old boy with intractable epilepsy and tuberous sclerosis complex (TSC). The patient had multiple subcortical tubers, one of which was located in the right central sulcus. In preparation for epilepsy surgery, motor mapping, by neuronavigated transcranial magnetic stimulation (nTMS) coupled with surface electromyography (EMG) was performed to locate the primary motor cortical areas. The resulting functional motor map revealed expected corticospinal connectivity in the left precentral gyrus...
2017: Epilepsy & Behavior Case Reports
https://www.readbyqxmd.com/read/28614114/primary-intestinal-lymphangiectasia-as-a-first-manifestation-of-tuberous-sclerosis-complex
#10
Natalie Boon Lin Tan, Simon Tamblyn, Rupert Hinds
No abstract text is available yet for this article.
June 13, 2017: Journal of Pediatric Gastroenterology and Nutrition
https://www.readbyqxmd.com/read/28611587/downregulation-of-microrna-193b-3p-promotes-autophagy-and-cell-survival-by-targeting-tsc1-mtor-signaling-in-nsc-34-cells
#11
ChunYu Li, YongPing Chen, XuePing Chen, QianQian Wei, Bei Cao, HuiFang Shang
Amyotrophic lateral sclerosis (ALS) is a fatal neurodegenerative disease characterized by the death of upper and lower motor neurons. MicroRNAs (miRNAs) are reported to be closely related to the development of ALS. However, the precise functions of miRNAs in the pathogenesis of ALS remain largely unknown. In previous studies, we determined that miRNA-193b-3p was significantly downregulated in patients with sporadic ALS (sALS). Here, we observed that miRNA-193b-3p was downregulated in the SOD1(G93A) mouse model of ALS and promoted cell death in NSC-34 cells...
2017: Frontiers in Molecular Neuroscience
https://www.readbyqxmd.com/read/28611315/the-tuberous-sclerosis-complex-gets-fatter
#12
Prashanth Gokare, Wafik S El-Deiry
No abstract text is available yet for this article.
June 11, 2017: Oncotarget
https://www.readbyqxmd.com/read/28608234/genomics-guided-precise-anti-epileptic-drug-development
#13
Norman Delanty, Gianpiero Cavallleri
Traditional antiepileptic drug development approaches have yielded many important clinically valuable anti-epileptic drugs. However, the screening of promising compounds has been naturally agnostic to epilepsy etiology in individual human patients. Now, genomic medicine is changing the way we view human disease. International collaborations are unraveling the many molecular genetic causes of the epilepsies, including the early onset epileptic encephalopathies, and some of the familial focal epilepsies. Further advances in precision diagnostics will be facilitated by ongoing large collaborations and the wider availability of whole exome and whole genome sequencing in clinical practice...
June 12, 2017: Neurochemical Research
https://www.readbyqxmd.com/read/28600153/improvement-in-renal-cystic-disease-of-tuberous-sclerosis-complex-after-treatment-with-mammalian-target-of-rapamycin-inhibitor
#14
Brian J Siroky, Alexander J Towbin, Andrew T Trout, Hannah Schäfer, Anna R Thamann, Karen D Agricola, Cynthia Tudor, Jamie Capal, Bradley P Dixon, Darcy A Krueger, David N Franz
Renal cysts occur in approximately 50% of patients with tuberous sclerosis complex, but their clinical significance and response to treatment are unknown. Abdominal imaging of 15 patients with tuberous sclerosis complex-associated renal cystic disease who had received mammalian target of rapamycin inhibitor therapy for other tuberous sclerosis complex-related indications was evaluated. Reductions in cyst number, sum diameter, and volume were observed.
June 6, 2017: Journal of Pediatrics
https://www.readbyqxmd.com/read/28598544/dermatological-manifestations-of-tuberous-sclerosis-complex-tsc
#15
REVIEW
Daniel Ebrahimi-Fakhari, Sascha Meyer, Thomas Vogt, Claudia Pföhler, Cornelia Sigrid Lissi Müller
Tuberous sclerosis complex (TSC) is a genetic multisystem disorder with prominent skin involvement that frequently occurs in early childhood. Dermatologic manifestations include facial angiofibromas, hypomelanotic macules, fibrous cephalic plaques, shagreen patches, and ungual fibromas. The International TSC Consensus Conference in 2012 provided guidelines for standardized baseline evaluation and follow-up. Detailed clinical dermatological evaluation at the time of diagnosis and annual skin examination is recommended for both pediatric and adult populations...
June 9, 2017: Journal der Deutschen Dermatologischen Gesellschaft, Journal of the German Society of Dermatology: JDDG
https://www.readbyqxmd.com/read/28594706/diagnosis-of-tuberous-sclerosis-complex-in-a-patient-referred-for-uncontrolled-hypertension-and-renal-dysfunction-a-case-highlighting-the-importance-of-proper-diagnostic-work-up-of-hypertensive-patients
#16
Pantelis A Sarafidis, Athanasios Bikos, Charalampos Loutradis, Stergios Tzikas, Efstratios Vakirlis, Eugenia Avdelidou, Dimitrios Zafeiriou, Aikaterini Papagianni, Vasileios Vassilikos
: We report a case of a 39-year-old woman with resistant hypertension and renal dysfunction. The patient was hospitalized 3 months earlier for dyspnea at the Department of Cardiology, where she was diagnosed with heart failure (left ventricle injection fraction: 25-30%), pulmonary hypertension, chronic kidney disease (serum creatinine: 1.58 mg/dl), and resistant hypertension and discharged with optimal heart failure treatment. At presentation to our clinic, apart from uncontrolled hypertension for more than 10 years and history of pre-eclampsia and fetal loss, the patient had obesity (BMI: 38 kg/m) and facial fibromas...
June 7, 2017: Journal of Hypertension
https://www.readbyqxmd.com/read/28591720/brsk2-induced-by-nutrient-deprivation-promotes-akt-activity-in-pancreatic-cancer-via-downregulation-of-mtor-activity
#17
Hexige Saiyin, Ning Na, Xu Han, Yuan Fang, Yanhua Wu, Wenhui Lou, Xianmei Yang
Neoplastic cells in pancreatic ductual adenocarcinoma (PDAC) survive in an energy-deprived milieu, and hyper-activation of Akt is thought to contribute to the neoplastic cell survival in PDAC. Kras activating mutations, common in PDAC, was believed to be the major driver of Akt activation. However, the inhibitor to Kras was not therapeutic for PDAC patients. This implied that PDAC cells might harbor an intrinsic merit that strengthens Akt activity. Here we showed that BRSK2, a serine/threonine-protein kinase of AMPK family, was induced by nutrient deprivation in PDAC cells and suppressed mTORC1 activity via phosphorylation of tuberous sclerosis complex 2 (TSC2)...
May 18, 2017: Oncotarget
https://www.readbyqxmd.com/read/28588230/characterization-of-developmental-defects-in-the-forebrain-resulting-from-hyperactivated-mtor-signaling-by-integrative-analysis-of-transcriptomic-and-proteomic-data
#18
Jiheon Shin, Minhyung Kim, Hee-Jung Jung, Hye Lim Cha, Haeyoung Suh-Kim, Sanghyun Ahn, Jaehoon Jung, YounAh Kim, Yukyung Jun, Sanghyuk Lee, Daehee Hwang, Jaesang Kim
Hyperactivated mTOR signaling in the developing brain has been implicated in multiple forms of pathology including tuberous sclerosis complex (TSC). To date, various phenotypic defects such as cortical lamination irregularity, subependymal nodule formation, dysmorphic astrocyte differentiation and dendritic malformation have been described for patients and animal models. However, downstream networks affected in the developing brain by hyperactivated mTOR signaling have yet to be characterized. Here, we present an integrated analysis of transcriptomes and proteomes generated from wild-type and Tsc1/Emx1-Cre forebrains...
June 6, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28584686/extra-pituitary-cerebral-anomalies-in-pediatric-patients-of-ectopic-neurohypophysis-an-uncommon-association
#19
Deb K Boruah, Shantiranjan Sanyal, Arjun Prakash, Sashidhar Achar, Rajanikant R Yadav, T Pravakaran, Dhaval D Dhingani, Barun K Sarmah
CONTEXT: Ectopic neurohypophysis (EN) refers to an interrupted, nonvisualized, and thinned out pituitary stalk with ectopic location of the posterior pituitary gland. Concurrent extra-pituitary cerebral and extra-cranial anomalies have been rarely reported in patients of EN. AIM: The aim of this study was to evaluate the magnetic resonance imaging (MRI) findings of extra-pituitary cerebral anomalies in pediatric patients of EN. SETTINGS AND DESIGN: A hospital-based cross-sectional study was conducted in a tertiary care center...
2017: Journal of Clinical Imaging Science
https://www.readbyqxmd.com/read/28584685/renal-epithelioid-angiomyolipoma-associated-with-pulmonary-lymphangioleiomyomatosis-imaging-findings
#20
Athina C Tsili, Alexandra Ntorkou, Maria I Argyropoulou
Renal angiomyolipomas (AMLs) and pulmonary lymphangioleiomyomatosis (LAM) are the most common tumors of the perivascular epithelioid cell (PEComa) family. Both may be associated with tuberous sclerosis (TS) complex. Epithelioid AML (EAML) is a rare variety of AMLs, with a potential aggressive behavior. There are few reports in the English literature addressing on the imaging findings of renal EAMLs, which are considered nonspecific. We present the sonographic, computed tomographic, and magnetic resonance imaging findings of a renal EAML in a pregnant woman with concomitant pulmonary lesions indicative of LAM, without stigmata of TS...
2017: Journal of Clinical Imaging Science
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