Pathogenesis of Human Tuberous Sclerosis

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Human tuberous sclerosis is an autosomal dominant multisystem disorder characterized by phacomatosis with manifestations that include mental retardation, seizures and neoplastic lesions.Although their nature and pathogenesis had been obscure for more than a century since their fist description in the medical literature, recent advancements in molecular biology and genetics has enabled identification of the responsible gene or genes of these diseases and allowed insight into their pathogenesis and especially their neoplastic process.Because nothing is known about the molecular mechanism of human tuberous sclerosis, the Tsc2 gene mutant (Eker) rat has great potential for elucidating the TSC2 gene role in renal carcinogenesis, as well as studying species-specific differences in tumorigenesis and/or cell-type specific carcinogenesis. Moreover, there are effects of genetic background on renal carcinogenesis in the Eker rat model.These data indicate there is a modifier gene(s) that suppresses the growth of tumors.The identification of such a modifier gene(s) might help to understand diverse phenotypes in humans.