Related Experiment Video
Updated: Aug 7, 2026
08:23
Characterization of Sickling During Controlled Automated Deoxygenation with Oxygen Gradient Ektacytometry
Published on: November 5, 2019
Erythrocyte membrane cation carrier in Down syndrome
G J Naylor1, M Semple, E A Irvine
1Royal Dundee Liff Hospital, UK.
Clinical Genetics
|January 1, 1993
Summary
Researchers investigated the erythrocyte sodium pump in individuals with Down syndrome and compared them to matched controls. No significant differences in sodium pump activity were found between the two groups.
Area of Science:
- Biochemistry
- Genetics
- Physiology
Background:
- Down syndrome is a genetic disorder associated with intellectual disability.
- Erythrocyte sodium pump function is crucial for maintaining cellular homeostasis.
- Alterations in ion transport have been suggested in various genetic conditions.
Purpose of the Study:
- To compare erythrocyte sodium pump activity in individuals with Down syndrome versus matched controls.
- To investigate potential correlations between Down syndrome and sodium pump function.
Main Methods:
- Erythrocyte sodium pump activity was measured using established biochemical assays.
- Subjects were individuals diagnosed with Down syndrome.
- Control group comprised mentally handicapped individuals matched for relevant demographic factors.
Main Results:
- No statistically significant differences were observed in erythrocyte sodium pump measures between the Down syndrome group and the control group.
- This suggests that the sodium pump is not significantly altered in Down syndrome.
Conclusions:
- Erythrocyte sodium pump activity does not appear to be significantly affected by Down syndrome.
- Further research may explore other cellular mechanisms or specific ion transporters in Down syndrome.
More Related Videos
Related Concept Videos
01:49Meiosis I
Meiosis is a carefully orchestrated set of cell divisions, the goal of which—in humans—is to produce haploid sperm or eggs, each containing half the number of chromosomes present in somatic cells elsewhere in the body. Meiosis I is the first such division, and involves several key steps, among them: condensation of replicated chromosomes in diploid cells; the pairing of homologous chromosomes and their exchange of information; and finally, the separation of homologous chromosomes by a...
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...
01:42The ADP/ATP Carrier Protein
ADP/ATP carrier or AAC protein is the most abundant carrier protein in the inner mitochondrial membrane. It transports large quantities of ADP and ATP, equivalent to the average human body weight, every day. Among other transporters, ACC protein is one of the best-studied members of the mitochondrial carrier protein family. The ADP/ATP carrier protein comprises two transmembrane helices connected to a loop and a single alpha-helix on the matrix side. It switches between two conformational...
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:
01:19Membrane Asymmetry Regulating Transporters
Enzymes like flippase, floppase, and scramblase transfer phospholipids from one layer to another in the membrane, thereby affecting membrane asymmetry.
Flippase
Eukaryotic flippases are type-IV P-type ATPases or P4-ATPases belonging to P-type ATPase family proteins that are membrane-bound pumps involved in the ATP-mediated transport of ions and molecules across the membrane. Flippases flip specific phospholipids from the outer to the inner leaflet of a membrane. All P4-ATPases have one...
Flippase
Eukaryotic flippases are type-IV P-type ATPases or P4-ATPases belonging to P-type ATPase family proteins that are membrane-bound pumps involved in the ATP-mediated transport of ions and molecules across the membrane. Flippases flip specific phospholipids from the outer to the inner leaflet of a membrane. All P4-ATPases have one...
01:16Facilitated Diffusion
The plasma membrane, a critical structure in cellular biology, houses an array of transporters, or carrier proteins, interspersed within its lipid bilayer. These proteins play a crucial role in solute transport through facilitated diffusion, a form of passive diffusion that uses transporters to move the molecules across the membrane.
In this process, substrates such as organic compounds and ions interact with a transporter on one side, triggering conformational changes in proteins that enable...
In this process, substrates such as organic compounds and ions interact with a transporter on one side, triggering conformational changes in proteins that enable...