Articles tagged with Tuberous Sclerosis
Researchers have identified a widespread source of error in a popular genome study method and created a machine-learning tool to correct it. PATTY uses machine learning to reduce artifacts while preserving real signals in noisy data, giving researchers a clearer view of gene activity control.
Researchers have discovered that Schwann Cell Precursors are the origin of tuberous sclerosis complex tumours in the kidney. Lab-grown 'mini-kidneys' were used to create a genetic profile similar to TSC tumours, revealing the diversity in tumour size and cellular makeup within patients.
Breakthrough research reveals Tuberous Sclerosis Complex arises from human-specific progenitor cells, explaining its pathology. Human-derived cerebral organoid models shed light on complex brain development and potential mechanisms for other diseases.
A recent study found that mTORC1 enhances neuronal network activity in TSC neurons by increasing Ca2+ influx via L-type Ca2+ channels. This increase promotes axonal extensions and triggers sustained activation of CREB, a transcription factor important for synaptic plasticity.
A Canadian research team has identified a critical period in postnatal brain development that contributes to neurodevelopmental disorders associated with tuberous sclerosis. The study suggests that a mutation in the TSC1 gene disrupts the mTOR signaling pathway, leading to abnormal cell proliferation and synaptic connections defects.
Researchers at Massachusetts General Hospital have developed a gene therapy strategy that effectively treats mice with a mutated TSC2 gene, causing the growth of noncancerous tumors. The treatment extends survival to 462 days and reduces brain damage in mice, suggesting potential for human clinical trials.
Researchers found that mutation and loss of TSC1 leads to decreased sensitivity to Hsp90 inhibitors, causing hypoacetylation of Hsp90. Co-targeting HDACs may restore Hsp90 acetylation and sensitivity in bladder cancer patients with TSC1 mutations.
A new study by Baylor College of Medicine researchers discovered two independent mechanisms contributing to tuberous sclerosis, a rare genetic disease. Glycogen accumulation is linked to mTORC1 hyperactivity in some cases, while other TSC2 mutations trigger defects in lysosome formation and glycogen digestion.
A new cream containing rapamycin has been shown to significantly reduce disfiguring facial tumors in people with tuberous sclerosis complex, with 80% of patients experiencing a significant improvement. The treatment offers hope for individuals affected by the condition, which affects over 50,000 people in the US.
Researchers at Boston Children's Hospital have identified a new cause of brain defects in tuberous sclerosis complex (TSC) patients. The study reveals that a protein called connective tissue growth factor (CTGF) impedes oligodendrocyte development and myelination in the brains of TSC patients.
A phase 3 study found that the drug everolimus significantly reduces seizure frequency in patients with treatment-resistant epilepsy and TSC. Nearly half of patients had failed previous antiepileptic drugs before participating in the study.
A drug originally developed to prevent organ rejection has been shown to dramatically reduce a particular kind of brain tumor in patients with tuberous sclerosis complex (TSC). The study found that 35% of patients experienced at least a 50% reduction in tumor volume after treatment with everolimus.
A study at Boston Children's Hospital found that autism spectrum disorders may involve disordered white matter in the brain, with patients exhibiting higher radial diffusivity values and disorganized axon pathways compared to healthy controls.
Notch signaling pathway activation has been linked to tuberous sclerosis complex (TSC) tumors. Inhibition of Notch was shown to suppress tumor growth in rat cells deficient in either TSC1 or TSC2. These findings support a role for TSC proteins in regulating Notch activity.
Researchers discovered that a rare genetic disorder, tuberous sclerosis complex, may be linked to neurological disorders such as autism, epilepsy, and mental retardation. The study found that abnormal neuronal structure can lead to excess brain connections, which may contribute to these conditions.
Researchers at UCLA discovered that rapamycin reverses learning deficits caused by tuberous sclerosis complex (TSC), a genetic disorder also linked to autism. The study shows that the disease's impact can be reversed through biochemical changes, restoring normal brain function and memory.
Researchers at Cardiff University have made promising progress in treating tuberous sclerosis, an inherited disease that causes tumours to grow in organs. After a year of Sirolimus treatment, kidney tumour diameters shrunk by 26% on average.
Researchers studied brain lesions in children with tuberous sclerosis complex and found autism results from complex brain events, not single source. Biochemical abnormalities in outer layer of the brain impacted communication skills, while subcortical changes led to stereotypical behaviors.