tuberous sclerosis complex
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2022 ◽  
Vol 17 (2) ◽  
pp. 399-403
Kreshnike Dedushi ◽  
Fjolla Hyseni ◽  
Juna Musa ◽  
Kristi Saliaj ◽  
Valon Vokshi ◽  

2022 ◽  
Vol 14 (1) ◽  
Anatoly Korotkov ◽  
Mark J. Luinenburg ◽  
Alessia Romagnolo ◽  
Till S. Zimmer ◽  
Jackelien van Scheppingen ◽  

Abstract Background The genetic disorder tuberous sclerosis complex (TSC) is frequently accompanied by the development of neuropsychiatric disorders, including autism spectrum disorder and intellectual disability, with varying degrees of impairment. These co-morbidities in TSC have been linked to the structural brain abnormalities, such as cortical tubers, and recurrent epileptic seizures (in 70–80% cases). Previous transcriptomic analysis of cortical tubers revealed dysregulation of genes involved in cell adhesion in the brain, which may be associated with the neurodevelopmental deficits in TSC. In this study we aimed to investigate the expression of one of these genes – cell-adhesion molecule contactin-3. Methods Reverse transcription quantitative polymerase chain reaction for the contactin-3 gene (CNTN3) was performed in resected cortical tubers from TSC patients with drug-resistant epilepsy (n = 35, age range: 1–48 years) and compared to autopsy-derived cortical control tissue (n = 27, age range: 0–44 years), as well as by western blot analysis of contactin-3 (n = 7 vs n = 7, age range: 0–3 years for both TSC and controls) and immunohistochemistry (n = 5 TSC vs n = 4 controls). The expression of contactin-3 was further analyzed in fetal and postnatal control tissue by western blotting and in-situ hybridization, as well as in the SH-SY5Y neuroblastoma cell line differentiation model in vitro. Results CNTN3 gene expression was lower in cortical tubers from patients across a wide range of ages (fold change = − 0.5, p < 0.001) as compared to controls. Contactin-3 protein expression was lower in the age range of 0–3 years old (fold change = − 3.8, p < 0.001) as compared to the age-matched controls. In control brain tissue, contactin-3 gene and protein expression could be detected during fetal development, peaked around birth and during infancy and declined in the adult brain. CNTN3 expression was induced in the differentiated SH-SY5Y neuroblastoma cells in vitro (fold change = 6.2, p < 0.01). Conclusions Our data show a lower expression of contactin-3 in cortical tubers of TSC patients during early postnatal period as compared to controls, which may affect normal brain development and might contribute to neuropsychiatric co-morbidities observed in patients with TSC.

E. Fidalgo da Silva ◽  
J. Fong ◽  
A. Roye-Azar ◽  
A. Nadi ◽  
C. Drouillard ◽  

The ability of cells to sense diverse environmental signals, including nutrient availability and conditions of stress, is critical for both prokaryotes and eukaryotes to mount an appropriate physiological response. While there is a great deal known about the different biochemical pathways that can detect and relay information from the environment, how these signals are integrated to control progression through the cell cycle is still an expanding area of research. Over the past three decades the proteins Tuberin, Hamartin and TBC1D7 have emerged as a large protein complex called the Tuberous Sclerosis Complex. This complex can integrate a wide variety of environmental signals to control a host of cell biology events including protein synthesis, cell cycle, protein transport, cell adhesion, autophagy, and cell growth. Worldwide efforts have revealed many molecular pathways which alter Tuberin post-translationally to convey messages to these important pathways, with most of the focus being on the regulation over protein synthesis. Herein we review the literature supporting that the Tuberous Sclerosis Complex plays a critical role in integrating environmental signals with the core cell cycle machinery.

Demitre Serletis ◽  
Carling MacDonald ◽  
Qi Xu ◽  
Colin J. Kazina ◽  
Shyamala Dakshinamurti ◽  

Efthymia Vargiami ◽  
Stella Stabouli ◽  
Christina Sidira ◽  
Maria Kyriazi ◽  
Athanasia Anastasiou ◽  

2022 ◽  
Dan Boitor Borza ◽  
Roxana Popa Stanila ◽  
Gabriela Zaharie ◽  
Monica Hasmasanu ◽  
Daniel Muresan

Fetal cardiac rhabdomyomas should trigger the awareness of a potential coexisting tuberous sclerosis complex that can lead to a poor neurological outcome. This condition is not only uncommon but can be easily unrecognized prenatally in the absence of a meticulous neurosonogram and MRI. We emphasize that careful consideration of all prenatal facilities is required to confirm the diagnosis of tuberous sclerosis complex as early as possible during pregnancy.

2022 ◽  
Vol 126 ◽  
pp. 108431
Xuezhi Tong ◽  
Xiongfei Wang ◽  
Lang Qin ◽  
Jian Zhou ◽  
Yuguang Guan ◽  

2022 ◽  
Vol 17 (1) ◽  
pp. 27-31
Shu Syi Lim ◽  
Muhammad Zahid Abdul Muien ◽  
Shaun Darren Aeria ◽  
Chiak Yot Ng ◽  
Yong Guang Teh

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