Related Experiment Video
Updated: Jul 5, 2026
11:27
Methods to Study Epithelial Transport Protein Function and Expression in Native Intestine and Caco-2 Cells Grown in 3D
Published on: March 16, 2017
Inherited epithelial transporter disorders--an overview.
M J Bergeron1, A Simonin, M Bürzle
1Institute of Biochemistry and Molecular Medicine, University of Berne, Berne, Switzerland.
Journal of Inherited Metabolic Disease
|April 17, 2008
Summary
Genetic defects in epithelial transporters, including glucose and amino acid transporters, cause inherited human diseases. This review highlights key genetic transporter defects and their roles in disease pathogenesis.
Area of Science:
- Molecular Biology
- Genetics
- Human Physiology
Background:
- Advancements in cloning techniques and the human genome project significantly improved the identification of transporter genes starting in the late 1990s.
- The roles of numerous transporter genes in various human diseases have been identified since their discovery.
- Epithelial transporters play crucial roles in nutrient absorption and waste excretion, and their dysfunction can lead to disease.
Purpose of the Study:
- To provide an overview of inherited disorders affecting epithelial transporters.
- To focus on genetic defects within the solute carrier (SLC) gene families responsible for transporting glucose and amino acids.
- To review specific genetic mutations in glucose transporters (SLC2 and SLC5 families) and amino acid transporters (SLC1, SLC3, SLC6, and SLC7 families).
Main Methods:
- Literature review of scientific publications on transporter genes and inherited disorders.
- Analysis of genetic data related to solute carrier (SLC) families involved in epithelial transport.
- Focus on expression cloning and human genome project-derived data for gene identification.
Main Results:
- Identification of numerous transporter genes and their association with human diseases.
- Elucidation of the genetic basis for several inherited disorders linked to epithelial transporter dysfunction.
- Specific examples of genetic defects in glucose transporters (SLC2, SLC5) and amino acid transporters (SLC1, SLC3, SLC6, SLC7) and their disease associations.
Conclusions:
- Genetic defects in epithelial transporters are a significant cause of inherited human diseases.
- Understanding these genetic defects is crucial for diagnosing and potentially treating related disorders.
- Further research into transporter function and dysfunction will continue to advance our knowledge of human health and disease.
More Related Videos
07:06Isolation of Primary Human Proximal Tubule Epithelial Cells and Their Use in Creating a Microphysiological Model of the Renal Proximal Tubule
Published on: May 9, 2025
06:43Functional Assessment of Intestinal Tight Junction Barrier and Ion Permeability in Native Tissue by Ussing Chamber Technique
Published on: May 26, 2021
Related Concept Videos
01:06Carrier-Mediated Transport
Carrier-mediated transport is a pivotal process in drug absorption, particularly for lipid-insoluble drugs, and encompasses facilitated diffusion and active transport. Facilitated diffusion allows drugs to move along their concentration gradient without energy expenditure, while active transport utilizes ATP to drive drug movement against this gradient.
Active transport involves two types of membrane-spanning transporters: uptake and efflux. Uptake transporters are expressed in the small...
Active transport involves two types of membrane-spanning transporters: uptake and efflux. Uptake transporters are expressed in the small...
01:31Membrane Transporters
Transporters are essential membrane transport proteins with functions related to cell nutrition, homeostasis, communication, etc. Approximately 7% of all genes in the human genome code for transporters or transporter-related proteins.
Transporters are mainly composed of alpha-helices, built from bundles of ten or more helices traversing the plasma membrane. The solute-binding sites are located midway, where some of the helices are broken or distorted, making space for the binding site through...
Transporters are mainly composed of alpha-helices, built from bundles of ten or more helices traversing the plasma membrane. The solute-binding sites are located midway, where some of the helices are broken or distorted, making space for the binding site through...
01:27Glucose Transporters
Glucose transporters facilitate the transport of glucose across the cell membrane. In addition to glucose, some glucose transporters can also aid the movement of other hexoses such as fructose, mannose, and galactose.
Facilitated diffusion-glucose transporters (GLUTs) are encoded by the solute-linked carrier (SLC) family 2, subfamily A gene family, or SLC2A. The 14 GLUT protein members are distributed into three classes:
Facilitated diffusion-glucose transporters (GLUTs) are encoded by the solute-linked carrier (SLC) family 2, subfamily A gene family, or SLC2A. The 14 GLUT protein members are distributed into three classes:
01:23Transcellular Transport of Solutes
Transcellular transport of solutes is the movement of substances like monosaccharides and amino acids through polarized cells. This transport mechanism is primarily seen in epithelial and endothelial cells aided by membrane transport proteins such as channels and transporters. The tight junctions between these cells confine the membrane proteins to the two sides of the cell. The epithelial cells have distinct apical and basolateral domains. In contrast, the endothelial cells show the luminal...
01:31ABC Transporters: Exporter
ATP-binding cassette or ABC transporter is the largest superfamily of integral membrane proteins. The transporters have transmembrane-binding domains (TMDs) and nucleotide-binding domains (NBDs). The TMDs are specific to their substrates, whereas the NBDs are similar to engines that complete ATP hydrolysis to complete the substrate transport. They can be full transporters consisting of two TMDs and NBDs, half transporters with one TMD and NBD, while some encoded with a single TMD or NBD are...
01:16Pharmacogenetics of Drug Transporters: P-Glycoprotein and Solute Carrier Transporters
The pharmacogenetics of drug transporters is increasingly recognized as a critical factor influencing interindividual variability in drug absorption, distribution, and elimination. These membrane-bound proteins regulate drugs' movement across cellular barriers by actively pumping them out (efflux) or facilitating their uptake (influx). Among the major transporter families, ATP-binding cassette (ABC) and solute carrier (SLC) transporters play particularly prominent roles. Genetic polymorphisms...