Abstract
Dolichols, polyisoprene alcohols derived from the mevalonate pathway of cholesterol synthesis, serve as carriers of glycan precursors for the formation of oligosaccharides important in protein glycosylation. Seven autosomal-recessively inherited disorders in the metabolism (synthesis, utilization, recycling) of the dolichols have recently been described, and all are associated with decreased lipid-linked oligosaccharides leading to underglycosylated proteins or lipids which facilitate their detection in the diagnostic laboratory. Multisystem pathology encompasses developmental delays and eye, heart, skin and muscle abnormalities; outcomes range from death in infancy to mild, late-onset disease.
Original language | English (US) |
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Pages (from-to) | 322-328 |
Number of pages | 7 |
Journal | American Journal of Medical Genetics, Part C: Seminars in Medical Genetics |
Volume | 160 C |
Issue number | 4 |
DOIs | |
State | Published - Nov 15 2012 |
Keywords
- Cholesterol
- Dolichol
- Glycosylation
- Ichthyosis
- Isoprene
- Isoprenoids
- Mannosylation
- Muscular dystrophy
- Retinitis pigmentosa
ASJC Scopus subject areas
- Genetics
- Genetics(clinical)