| Autor: |
Beesley CE; Biochemistry, Endocrinology and Metabolism Unit, Institute of Child Health, University College London, London, UK. C.Beesley@ich.ucl.ac.uk, Jackson M, Young EP, Vellodi A, Winchester BG |
| Jazyk: |
angličtina |
| Zdroj: |
Journal of inherited metabolic disease [J Inherit Metab Dis] 2005; Vol. 28 (5), pp. 759-67. |
| DOI: |
10.1007/s10545-005-0093-y |
| Abstrakt: |
Sanfilippo syndrome type B (mucopolysaccharidosis IIIB) is an autosomal recessive disease that is caused by the deficiency of the lysosomal enzyme alpha-N-acetylglucosaminidase (NAGLU). NAGLU is involved in the degradation of the glycosaminoglycan (GAG) heparan sulphate, and a deficiency results in the accumulation of partially degraded GAGs inside lysosomes. Early clinical symptoms include hyperactivity, aggressiveness and delayed development, followed by progressive mental deterioration, although there are a small number of late-onset attenuated cases. The gene for NAGLU has been fully characterized and we report the molecular analysis of 18 Sanfilippo B families. In total, 34 of the 36 mutant alleles were characterized in this study and 20 different mutations were identified including 8 novel changes (R38W, V77G, 407-410del4, 703delT, A246P, Y335C, 1487delT, E639X). The four novel missense mutations were transiently expressed in Chinese hamster ovary cells and all were shown to decrease the NAGLU activity markedly, although A246P did produce 12.7% residual enzyme activity. |
| Databáze: |
MEDLINE |
| Externí odkaz: |
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