History
The first CDG patients (twin sisters) were described in an abstract in the medical journal Pediatric Research in 1980 by Jaeken et al. Their main features were psychomotor retardation, cerebral and cerebellar atrophy and fluctuating hormone levels (e.g.prolactin, FSH and GH). During the next 15 years the underlying defect remained unknown but since the plasmaprotein transferrin was underglycosylated (as shown by e.g. isoelectric focusing), the new syndrome was named carbohydrate-deficient glycoprotein syndrome (CDGS). Its "classical" phenotype included psychomotor retardation, ataxia, strabismus, anomalies (fat pads and inverted nipples) and coagulopathy.
In 1994, a new phenotype was described and named CDGS-II. In 1995, Van Schaftingen and Jaeken showed that CDGS-I (now CDG-Ia or PMM2-CDG) was caused by the deficiency of the enzyme phosphomannomutase. This enzyme is responsible for the interconversion of mannose-6-phosphate and mannose-1-phosphate, and its deficiency leads to a shortage in GDP-mannose and dolichol (Dol)-mannose (Man), two donors required for the synthesis of the lipid-linked oligosaccharide precursor of N-linked glycosylation.
In 1998, Niehues et al. published a new CDG syndrome, CDG-Ib, which is caused by mutations in the enzyme metabolically upstream of PMM2, phosphomannose isomerase (PMI). In this paper, the authors also described a functional therapy for CDG-Ib, alimentary mannose.
The characterization of new defects took up speed and several new Type I and Type II defects were delineated.
Read more about this topic: Congenital Disorder Of Glycosylation
Famous quotes containing the word history:
“A great proportion of the inhabitants of the Cape are always thus abroad about their teaming on some ocean highway or other, and the history of one of their ordinary trips would cast the Argonautic expedition into the shade.”
—Henry David Thoreau (1817–1862)
“Humankind has understood history as a series of battles because, to this day, it regards conflict as the central facet of life.”
—Anton Pavlovich Chekhov (1860–1904)
“We are told that men protect us; that they are generous, even chivalric in their protection. Gentlemen, if your protectors were women, and they took all your property and your children, and paid you half as much for your work, though as well or better done than your own, would you think much of the chivalry which permitted you to sit in street-cars and picked up your pocket- handkerchief?”
—Mary B. Clay, U.S. suffragist. As quoted in History of Woman Suffrage, vol. 4, ch. 3, by Susan B. Anthony and Ida Husted Harper (1902)