The number of neural stem cells and neuronal precursor cells was essentially unchanged in MPS IIIA dog brain (c.f. There was a significant elevation in secondarily stored ganglioside (GM3 36:1) in ≤9.5-week-old MPS IIIA pup cerebellum, and other brain regions also exhibited accumulation of this lipid with time. A significant elevation in primarily stored heparan sulphate was observed in all brain regions assessed in MPS IIIA pups ≤9.5 weeks of age. Here, we utilised the Huntaway dog model of MPS IIIA to evaluate disease lesion development from 2 to 24 weeks of age.
Post-mortem studies have been carried out on human MPS IIIA brain, but little is known about early disease development. Mucopolysaccharidosis IIIA (MPS IIIA) is an inherited neurodegenerative disease of childhood that results in early death. Winner, Leanne K Marshall, Neil R Jolly, Robert D Trim, Paul J Duplock, Stephen K Snel, Marten F Hemsley, Kim M The physical properties of coarseness of those hair specimen seems to be due to differences in the structural assembly of hair fibres and storage of heparan sulfate.Įvaluation of Disease Lesions in the Developing Canine MPS IIIA Brain. Though morphological-macroscopically and microscopically-changes were described for Sanfilippo hair samples, we could not find any change in supramolecular structure. Also on X-ray diffraction analysis no differences could be detected. In healthy subjects as well as in the affected hair samples we found the wave numbers of structural relevance 1450, 1500, 1630, 1730, the pair 23, the quadruplet 2850, 2870, 2917, 29 cm-1. We applied X-ray diffraction and infrared spectroscopy to characterize the conformation of hair samples of Sanfilippo patients. Besides severe psychomotor retardation hair changes are obligatory.
Sanfilippo disease type IIIA is an inborn error of metabolism with a deficiency in the heparan sulfamidase.
Physicochemical hair conformation of patients with Sanfilippo disease type IIIA.Ĭharan, R K Nauer, G Wagner, U Klabuschnig, A Lubec, G
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