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Glycosaminoglycans01:23

Glycosaminoglycans

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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.
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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,...
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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,...
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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.
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Mucopolysaccharidosis.

Kusumitha Bhakthaganesh1, Manumuraleekrishna1, Murugesan Vanathi1

  • 1Cornea and Ocular Surface, Cataract and Refractive Services, Dr. R P Centre for Ophthalmic Sciences, All India Institute of Medical Sciences, New Delhi, India.

Taiwan Journal of Ophthalmology
|January 22, 2024
PubMed
Summary
This summary is machine-generated.

Mucopolysaccharidoses (MPS) are inherited disorders causing glycosaminoglycan buildup, leading to organ damage. This review focuses on ocular manifestations, particularly corneal and anterior segment changes, in MPS patients.

Keywords:
Anterior segment optical coherence tomographycorneal opacification measurement scoreenzyme replacement therapyglycosaminoglycanshematopoietic stem cell transplantin vivo confocal microscopymucopolysaccharidosesultrasound biomicroscopy

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Area of Science:

  • Ophthalmology
  • Genetics
  • Metabolic Disorders

Background:

  • Mucopolysaccharidoses (MPS) are inherited metabolic diseases.
  • Lysosomal enzyme deficiencies cause glycosaminoglycan accumulation, damaging cells and organs.
  • MPS affects multiple organ systems, including the eyes.

Purpose of the Study:

  • To review ocular changes in MPS patients, focusing on the cornea and anterior segment.
  • To discuss clinical and investigative modalities for ocular manifestations.
  • To explore current management strategies and research developments.

Main Methods:

  • Literature review of ocular findings in Mucopolysaccharidoses.
  • Analysis of clinical presentations and diagnostic approaches.
  • Evaluation of therapeutic interventions and emerging research.

Main Results:

  • Visual impairment in MPS is diverse, stemming from corneal clouding, glaucoma, retinopathy, and optic neuropathy.
  • Corneal and anterior segment changes are common ocular features across MPS types.
  • Systemic therapies like HSCT and ERT show potential impact on ocular health.

Conclusions:

  • Ocular manifestations significantly impact vision in MPS patients.
  • Comprehensive understanding of corneal and anterior segment changes is crucial for management.
  • Ongoing research and novel therapies offer hope for improved visual outcomes.