dolichol


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dolichol

[′däl·ə‚kȯl]
(biochemistry)
Any of a group of long-chain unsaturated isoprenoid alcohols containing up to 84 carbon atoms; found free or phosphorylated in membranes of the endoplasmic reticulum and Golgi apparatus.
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Ziqiang Guan, an associate research professor of biochemistry in the Duke University Medical School and a contributing author of the study, and his collaborators had previously sequenced the genome of this family and found that the children with RP carry two copies of a mutation at the dehydrodolichol diphosphate synthase (DHDDS) gene, which makes the enzyme that synthesizes organic compounds called dolichols.
It is isolated from the neutral fraction of an extract of spruce needles and belongs to the group of polyprenols: polyisoprenoid alcohols that are transformed into dolichols in the liver (Blogger et al.
The consequences of dolichol insufficiency will be felt widely throughout the body.
The key was identifying the enzyme's role in producing dolichol.
Increased urinary dolichol in newborns whose mothers were heavy alcohol users.
Dolichol phosphate mannose synthase (DPM1) mutations define congenital disorder of glycosylation Ie (CDG-Ie).
However, the fact that there was no overlap in dolichol levels between exposed and unexposed infants makes this biomarker intriguing and possibly very useful.
In the second stage, nucleotide sugars enter the endoplasmic reticulum (ER) bound to dolichol phosphate.
This enzyme is required to synthesize mannose-1-phosphate, which is a precursor to GDP-mannose, the form of mannose used in glycosylation of the dolichol oligosaccharide required for N-glycosylation of proteins (6).
CDG I, by far the most common type with >300 patients described in the literature, is characterized by defects in the assembly of dolichol pyrophosphate oligosaccharide and/or in the transfer of oligosaccharide from dolichol pyrophosphate to an Asn residue on the nascent proteins.
This precursor is linked to dolichol pyrophosphate, which acts as a carrier for the oligosaccharide.