The TSC2 gene encodes tuberin, a protein that plays a crucial role in cellular growth and proliferation by inhibiting the mTOR signaling pathway. Mutations in TSC2 are associated with tuberous sclerosis complex, a genetic disorder characterized by the growth of benign tumors in multiple organs.

TSC2 Gene

Tuberin

Cellular growth is the process by which cells increase in size and number, playing a critical role in development, tissue repair, and overall organismal health. It is regulated by complex signaling pathways that ensure cells grow and divide at the appropriate times and in response to specific environmental cues.

Cellular Growth

Proliferation refers to the rapid increase or spread of something, often used in contexts such as nuclear weapons, technology, or information. It involves concerns about control, regulation, and the potential impact on global stability and security.

Proliferation

The mTOR signaling pathway is a central regulator of cell growth, proliferation, metabolism, and survival, responding to nutrient availability, energy status, and growth factors. Dysregulation of this pathway is implicated in various diseases, including cancer, diabetes, and neurodegenerative disorders, making it a critical target for therapeutic interventions.

MTOR Signaling Pathway

Mutations in TSC2

Tuberous sclerosis complex (TSC) is a genetic disorder characterized by the growth of benign tumors in multiple organs, including the brain, skin, kidneys, heart, and lungs. It is caused by mutations in the TSC1 or TSC2 genes, leading to dysregulation of the mTOR pathway, which affects cell growth and proliferation.

Tuberous Sclerosis Complex

Genetic disorders are diseases caused by abnormalities in an individual's DNA, which can be inherited or occur spontaneously. These disorders can range from single-gene mutations to complex conditions involving multiple genes and environmental factors.

Genetic Disorder

Benign tumors are non-cancerous growths that do not invade nearby tissues or spread to other parts of the body, often posing less of a health threat than malignant tumors. Despite being typically less dangerous, they can still cause complications if they press on vital structures or organs, requiring medical evaluation and sometimes surgical removal.

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