Related Experiment Video
Updated: Oct 21, 2025
07:35
Use of Ultra-high Field MRI in Small Rodent Models of Polycystic Kidney Disease for In Vivo Phenotyping and Drug Monitoring
Published on: June 23, 2015
11.6K
Renal cystic disease in tuberous sclerosis complex
Prashant Kumar1,2, Fahad Zadjali1,2,3, Ying Yao1,2
1Department of Pediatrics, University of Tennessee Health Science Center and Le Bonheur Children's Hospital, Memphis, TN 38105, USA.
Experimental Biology and Medicine (Maywood, N.J.)
|September 7, 2021
Summary
Tuberous sclerosis complex (TSC) involves gene mutations leading to mTORC1 pathway overactivation. This review covers TSC kidney disease genetics, cell biology, and the roles of extracellular vesicles and the immune system in its development.
Area of Science:
- Nephrology
- Genetics
- Cell Biology
Background:
- Tuberous sclerosis complex (TSC) is a genetic disorder caused by mutations in TSC1 or TSC2 genes.
- These mutations lead to the hyperactivation of the mechanistic target of rapamycin complex 1 (mTORC1) pathway.
- mTORC1 hyperactivation drives abnormal cell growth and proliferation, manifesting as renal tumors and cysts in TSC patients.
Purpose of the Study:
- To review recent advancements in the nephrology of tuberous sclerosis complex.
- To focus on the genetic and cellular mechanisms underlying TSC-related kidney disease.
- To highlight the involvement of extracellular vesicles and the innate immune system in TSC renal pathogenesis.
Main Methods:
- Literature review of recent research on tuberous sclerosis complex nephrology.
- Analysis of genetic and cell biology studies related to TSC renal disease.
- Synthesis of findings on the role of extracellular vesicles and innate immunity.
Main Results:
- Recent studies have elucidated the genetic underpinnings of TSC renal lesions.
- The role of mTORC1 pathway dysregulation in TSC kidney disease is further detailed.
- Emerging evidence points to extracellular vesicles and innate immune responses as key contributors to disease progression.
Conclusions:
- Understanding the genetics and cell biology of TSC renal disease is crucial for developing targeted therapies.
- Extracellular vesicles and the innate immune system represent novel therapeutic targets for TSC nephropathy.
- Continued research into these pathways will advance the management of kidney complications in tuberous sclerosis complex.
More Related Videos
Related Concept Videos
01:28Urinary Tract Calculi I: Introduction
160
Renal calculi, or kidney stones, are solid deposits of minerals and salts formed inside the kidneys. In medical terminology, "calculus" refers to the stone itself, while "lithiasis" describes the process of stone formation. Depending on their location within the urinary system, these stones may be classified as either urolithiasis, when situated within the urinary tract, or nephrolithiasis, when located within the kidneys. Each term signifies the specific impact of the stone.Predisposition...
160
01:23Cystic Fibrosis: Pathogenesis
434
Cystic fibrosis (CF), an autosomal recessive disorder, significantly affects the function of exocrine glands. This genetically inherited disease is characterized by the production of thick and sticky mucus, which can severely affect various organs and systems in the body.
CF is primarily caused by a genetic mutation in a chromosome 7 gene coding for the cystic fibrosis transmembrane conductance regulator (CFTR) protein. The most common gene mutation leading to CF is the ΔF508 mutation,...
CF is primarily caused by a genetic mutation in a chromosome 7 gene coding for the cystic fibrosis transmembrane conductance regulator (CFTR) protein. The most common gene mutation leading to CF is the ΔF508 mutation,...
434
01:24Renal Tubule and Collecting Duct
1.9K
The renal tubule is divided into three parts: the proximal convoluted tubule (PCT), the Loop of Henle (LOH), and the distal convoluted tubule (DCT).
Proximal Convoluted Tubule (PCT):
The PCT is the initial segment of the renal tubule, extending from the Bowman's capsule that encloses the glomerulus. Its convoluted structure and microvilli-lined cells increase the surface area for reabsorption. The PCT reabsorbs glucose, amino acids, sodium, and water from the filtrate, ensuring essential...
Proximal Convoluted Tubule (PCT):
The PCT is the initial segment of the renal tubule, extending from the Bowman's capsule that encloses the glomerulus. Its convoluted structure and microvilli-lined cells increase the surface area for reabsorption. The PCT reabsorbs glucose, amino acids, sodium, and water from the filtrate, ensuring essential...
1.9K
01:30Urinary Tract Calculi III: Medical Management
55
The diagnosis of renal calculi involves several imaging techniques, including non-contrast CT scans and ultrasound. These methods help visualize kidney stones, assess their size and location, and detect possible obstructions. Additionally, Measuring urine pH is useful for diagnosing specific stone types, such as struvite (alkaline pH) and uric acid stones (acidic pH). Cystine stones are primarily linked to cystinuria, a genetic condition. A urinalysis helps detect blood in the urine (hematuria)...
55
01:10Nephrons
4.0K
The kidneys are intricate organs with millions of working units known as nephrons. Each nephron features two major structures: the renal corpuscle, which facilitates blood plasma filtration, and the renal tubule, which handles the glomerular filtrate. Blood supply is directly linked to the nephrons. The renal corpuscle consists of the glomerulus, a capillary network, and the Bowman's capsule, a double-walled epithelial structure that encases the glomerulus. The filtering of blood plasma...
4.0K
01:27Imaging Studies III: Computed Tomography
91
DefinitionComputed Tomography (CT) of the genitourinary (GU) tract is a non-invasive imaging modality that utilizes X-rays and computer processing to generate detailed cross-sectional images of the urinary system, encompassing the kidneys, ureters, bladder, and adjacent structures such as the adrenal glands.PurposeCT scans of the GU tract serve several diagnostic and therapeutic purposes, including:Diagnosis of Urinary Tract Diseases: Detects kidney stones, tumors, cysts, and congenital...
91