Abstract
We have studied immunohistochemically the expression of tuberin, the protein product of the TSC2 gene, in cerebral, renal and cardiac tissues obtained from patients with tuberous sclerosis and from control patients. Tuberin immunoreactivity was moderate to strong in neurons and reactive astrocytes of control brains, but was reduced in brains with tuberous sclerosis. Staining intensity of abnormal giant cells varied from negative to moderate in cortical tubers, subependymal nodules and subependymal giant cell astrocytomas. In control kidneys, uriniferous and collecting tubules showed positive immunoreactivity, whereas a focal decrease in their staining intensity was noted in kidneys with tuberous sclerosis. Renal angiomyolipomas were negative for tuberin. In the heart, cardiac muscles in both control and tuberous sclerosis patients were strongly immunoreactive. Cardiac rhabdomyomas in the latter were stained less intensely. These results provide histological evidence for the loss of tuberin in tuberous sclerosis tissues, which is associated with the development of hamartomas in an organ-specific manner.
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