Rescue of impaired blood-brain barrier in tuberous sclerosis complex patient derived neurovascular unit.

ABSTRACT:

Background

Tuberous sclerosis complex (TSC) is a multi-system genetic disease that causes benign tumors in the brain and other vital organs. The most debilitating symptoms result from involvement of the central nervous system and lead to a multitude of severe symptoms including seizures, intellectual disability, autism, and behavioral problems. TSC is caused by heterozygous mutations of either the TSC1 or TSC2 gene and dysregulation of mTOR kinase with its multifaceted downstream signaling alterations is central to disease pathogenesis. Although the neurological sequelae of the disease are well established, little is known about how these mutations might affect cellular components and the function of the blood-brain barrier (BBB).

Methods

We generated TSC disease-specific ce

SUBMITTER: Brown JA 

PROVIDER: S-EPMC11112784 | biostudies-literature | 2024 May

REPOSITORIES: biostudies-literature