Related Experiment Video

Updated: Apr 11, 2026

Metabolic Glycoengineering of Sialic Acid Using N-acyl-modified Mannosamines
12:06

Metabolic Glycoengineering of Sialic Acid Using N-acyl-modified Mannosamines

Published on: November 25, 2017

13.6K

Mental retardation in mucopolysaccharidoses correlates with high molecular weight urinary heparan sulphate derived

G V Coppa1, O Gabrielli1, L Zampini1

  • 1Pediatric Division, Department of Clinical Sciences, Polytechnic University of the Marche, Ospedali Riuniti, Presidio Salesi, Ancona, Italy.

Metabolic Brain Disease
|May 29, 2015
PubMed

Insights

Severe mucopolysaccharidoses (MPS) with high molecular weight heparan sulfate (HS) accumulation correlate with mental retardation. Low molecular weight HS fragments and other GAGs do not impact cognitive function in MPS patients.

Area of Science:

  • Biochemistry
  • Genetics
  • Neurology

Background:

  • Mucopolysaccharidoses (MPS) are a group of genetic disorders characterized by the accumulation of glycosaminoglycans (GAGs).
  • Mental retardation is a common feature in severe forms of MPS I, II, and III, but absent in MPS IV and VI.
  • Heparan sulfate (HS) accumulation is linked to cognitive impairment in affected MPS patients.

Purpose of the Study:

  • To investigate the correlation between urinary HS-derived glucosamine (GlcN) levels and mental retardation in MPS patients.
  • To determine if the molecular weight of accumulated HS fragments influences cognitive outcomes.

Main Methods:

  • Analysis of urinary HS composition (high vs. low molecular weight) in 44 MPS patients and 83 healthy controls.
  • Correlation of HS-GlcN levels and molecular weight with the presence and severity of mental retardation.

Main Results:

  • Healthy individuals excrete low molecular weight HS fragments.
  • MPS patients excrete high molecular weight HS polymers and fragments of varying lengths.
  • A positive correlation was found between high molecular weight HS accumulation and mental retardation in severe MPS forms.

Conclusions:

  • High molecular weight HS accumulation is associated with mental retardation in MPS.
  • Low molecular weight HS fragments and other GAGs do not appear to affect central nervous system development in MPS.
Keywords:
GlucosamineGlycosaminoglycansHeparan sulfateMental retardationMucopolysaccharidosis

More Related Videos

Detection of Glycosaminoglycans by Polyacrylamide Gel Electrophoresis and Silver Staining05:57

Detection of Glycosaminoglycans by Polyacrylamide Gel Electrophoresis and Silver Staining

Published on: February 25, 2021

5.4K
Mucin Agarose Gel Electrophoresis: Western Blotting for High-molecular-weight Glycoproteins09:24

Mucin Agarose Gel Electrophoresis: Western Blotting for High-molecular-weight Glycoproteins

Published on: June 14, 2016

27.5K

Related Concept Videos

Glycosaminoglycans01:23

Glycosaminoglycans

Glycosaminoglycans (GAGs), also known as mucopolysaccharides, are long and linear polymers comprising of specific repeating disaccharides - the amino sugar that can be N-acetylglucosamine or N-acetylgalactosamine, and a uronic acid that is usually glucuronic acid or iduronic acid.
GAGS are found in the extracellular matrix of vertebrates, invertebrates, and bacteria. Due to their polar nature they attract water, and serve as excellent lubricants or shock absorbers in an animal body.
Hyaluronic...
8.0K
Proteoglycans01:05

Proteoglycans

Glycans, a class of complex heterogeneous molecules, can be covalently attached to proteins to form glycosylated proteins that regulate various physiological and pathological processes. Glycosylated proteins or glycoproteins comprise N-linked and O-linked oligosaccharides. O-glycosylation is the most common type of protein glycosylation. Here, glycans attach to the oxygen atom of the hydroxyl groups of Serine or Threonine residues. O-linked glycosylation occurs later in protein processing,...
5.3K
Oligosaccharide Assembly01:24

Oligosaccharide Assembly

Protein glycosylation starts in the ER lumen and continues in the Golgi apparatus. Glycosyltransferases catalyze the addition of sugar molecules or glycosylation of proteins. Usually, these enzymes add sugars to the hydroxyl groups of selected serine or threonine residues to form O-linked glycans or the amino groups of asparagine residues to form N-linked glycans. Different positions on the same polypeptide chain can contain differently linked glycans.
Multiple sugar molecules that may or may...
3.9K
Lysosomal Hydrolases01:22

Lysosomal Hydrolases

Lysosomes are the site for the degradation of macromolecules and biological polymers released during membrane trafficking events such as secretory, endocytic, autophagic, and phagocytic pathways. The membrane-enclosed area of the lysosome, called the lumen, contains hydrolytic enzymes active in an acidic environment. These acid hydrolases are functional at a pH between 4.5 and 5 and are involved in cellular processes such as cell signaling, energy metabolism, restoration of the plasma membrane,...
4.8K
Inborn Errors of Metabolism01:20

Inborn Errors of Metabolism

Phenylketonuria (PKU) is a protein metabolism disorder characterized by high blood levels of the amino acid phenylalanine. This results from a mutation in the gene responsible for phenylalanine hydroxylase, an enzyme that converts phenylalanine into tyrosine. When this enzyme is deficient, phenylalanine builds up in the blood, leading to symptoms such as vomiting, rashes, seizures, growth deficiency, and severe mental retardation. An early diagnosis and a diet restricting phenylalanine intake...
1.0K
Glucose Transporters01:27

Glucose 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:
28.4K