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Related Concept Videos

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,...
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...
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...
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,...
Disorders of the Skeletal Muscle01:28

Disorders of the Skeletal Muscle

The clinical conditions affecting the skeletal muscle tissue are broadly categorized as musculoskeletal and neuromuscular disorders.
Musculoskeletal disorders
Musculoskeletal disorders involve injuries and conditions affecting the skeletal muscles and associated connective tissues. These disorders can arise from acute biomechanical stresses or chronic overuse and can occur across different age groups. Common injuries include sprains, fractures, and muscular strains, often resulting from...
Protein Glycosylation01:25

Protein Glycosylation

Glycosylation, the most common post-translational modification for proteins, serves diverse functions. Adding sugars to proteins makes the proteins more resistant to proteolytic digestion. Glycosylated proteins can act as markers and receptors to promote cell-cell adhesion. Additionally, they have many essential quality control functions in the cell, such as correct protein folding and facilitating transport of misfolded proteins to the cytosol, which can be degraded.
Glycosylation occurs in...

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Laser Capture Microdissection of Mouse Embryonic Cartilage and Bone for Gene Expression Analysis
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Genetic Skeletal Disorders with Defects in Glycosaminoglycan Biosynthesis.

Yuko Tsujioka1,2, Pelin Ozlem Simsek Kiper3, Sheila Unger4

  • 1Department of Radiology, Keio University, Tokyo, Japan.

Molecular Syndromology
|May 7, 2026
PubMed
Summary

Abnormal glycosaminoglycan (GAG) synthesis causes genetic skeletal disorders. This review details common skeletal features like distal humeral hypoplasia and joint abnormalities, aiding diagnosis.

Keywords:
Desbuquois dysplasiaDiastrophic dysplasiaGlycosaminoglycanLinkeropathyProteoglycanSkeletal dysplasia

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Area of Science:

  • Biochemistry
  • Genetics
  • Skeletal Biology

Background:

  • Proteoglycans, composed of core proteins and glycosaminoglycan (GAG) chains, are crucial for connective tissue.
  • Genetic disorders arise from impaired GAG synthesis or degradation, affecting lysosomal pathways and GAG chain formation.
  • Abnormal GAG synthesis is linked to various genetic skeletal disorders with joint and skin abnormalities.

Purpose of the Study:

  • To review the skeletal manifestations of genetic disorders caused by abnormal GAG synthesis.
  • To highlight common and distinct clinical and radiological features for improved diagnosis.
  • To aid clinicians and geneticists in managing affected individuals.

Main Methods:

  • Review of existing literature and case reports on GAG synthesis disorders.
  • Analysis of clinical and radiological findings in patients with skeletal abnormalities.
  • Correlation of molecular findings with phenotypic presentations.

Main Results:

  • Disorders like diastrophic dysplasia (abnormal GAG sulfation) and Desbuquois dysplasia (impaired GAG chain elongation) are prototypes.
  • Defects in linker formation lead to specific phenotypes (linkeropathies).
  • Common skeletal features include distal humeral hypoplasia, misshapen femora, accelerated carpal ossification, and short bone malsegmentation.

Conclusions:

  • Abnormal GAG synthesis underlies a spectrum of genetic skeletal disorders.
  • Recognizing shared and unique skeletal features is vital for accurate diagnosis and management.
  • Understanding these disorders improves clinical practice and genetic counseling.