Esclerosis Tuberosa: patogénesis molecular y modelos animales

Leandro Piedimonte

doi:10.47924/neurotarget2006440

Authors

Leandro Piedimonte NYU Medical Center New York, USA

DOI:

https://doi.org/10.47924/neurotarget2006440

Abstract

Mutations in one of two genes, TSC1 or TSC2, result in a disease of similar phenotype by disrupting the normal interaction of their protein products, hamartin and tuberin, which form a functional complex of intracellular signals. Disruption of these genes in the brain results in abnormal cell differentiation, proliferation, and migration, giving rise to brain lesions characteristic of tuberous sclerosis complex called cortical tuberosities. The most devastating complications of tuberous sclerosis complex affect the central nervous system and include epilepsy, mental retardation, autism, and glial tumors. Relevant animal models, such as knocked out mice, are valuable tools for studying the normal functions of hamartin and tuberin and how disruption of their expression gives rise to the variety of clinical features that characterize tuberous sclerosis complex. In the future, these animals will be very valuable preclinical models for the development of highly specific and effective treatments for children affected with tuberous sclerosis complex.

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References

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