Renal cystic disease in tuberous sclerosis complex.

Abstract

Tuberous sclerosis complex (TSC) is associated with TSC1 or TSC2 gene mutations resulting in hyperactivation of the mTORC1 pathway. This mTORC1 activation is associated with abnormal tissue development and proliferation such that in the kidney there are both solid tumors and cystic lesions. This review summarizes recent advances in tuberous sclerosis complex nephrology and focuses on the genetics and cell biology of tuberous sclerosis complex renal disease, highlighting a role of extracellular vesicles and the innate immune system in disease pathogenesis.

• Authors: Prashant Kumar, Fahad Zadjali, Ying Yao, John J Bissler
• Journal: Experimental biology and medicine (Maywood, N.J.) (Exp Biol Med (Maywood)) Vol. 246 Issue 19 Pg. 2111-2117 (10 2021) ISSN: 1535-3699 [Electronic] England
• PMID: 34488473 (Publication Type: Journal Article, Research Support, Non-U.S. Gov't, Research Support, U.S. Gov't, Non-P.H.S., Review)

Chemical References

• Tumor Suppressor Proteins

Topics

• Animals
• Humans
• Immunity, Innate (genetics)
• Kidney (pathology)
• Kidney Diseases (genetics, pathology)
• Mutation (genetics)
• Signal Transduction (genetics)
• Tuberous Sclerosis (metabolism)
• Tumor Suppressor Proteins (genetics)