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Genetic defects in the human glycome.

Hudson H Freeze1

  • 1Burnham Institute for Medical Research, 10901 North Torrey Pines Road, La Jolla, California 92037, USA. hudson@burnham.org

Nature Reviews. Genetics
|June 7, 2006
PubMed
Summary

The human glycome, or all glycan structures, is vast and impacts nearly all organ systems. Genetic diseases affecting glycan synthesis reveal the glycome's critical functions.

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Area of Science:

  • Glycomics
  • Human Genetics
  • Molecular Biology

Background:

  • The human glycome, encompassing all glycan structures, is significantly larger than the human genome.
  • Glycans play crucial roles in biological processes, with 1% of human genes encoding proteins involved in glycan metabolism.
  • Over 30 genetic diseases impacting glycan synthesis and structure have been identified, affecting multiple organ systems.

Purpose of the Study:

  • To summarize the current understanding of the glycome and its associated genetic disorders.
  • To highlight the expanding knowledge of glycan functions revealed through the study of glycosylation disorders.

Main Methods:

  • Review of genetic and molecular studies identifying defects in glycan synthesis.
  • Analysis of mutations affecting enzymes, chaperones, and Golgi-trafficking complexes involved in glycosylation.

Main Results:

  • Identification of over 30 genetic diseases linked to altered glycan synthesis and structure.
  • Discovery that defects in enzymes, chaperones, and trafficking complexes impair glycosylation pathways.
  • Emerging insights into the diverse functions of the glycome through patient studies.

Conclusions:

  • The glycome's complexity is immense and critical for human health.
  • Genetic defects in glycosylation pathways lead to significant disease phenotypes.
  • Ongoing research into glycosylation disorders is progressively elucidating the functions of the glycome.

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