期刊
HUMAN MUTATION
卷 29, 期 11, 页码 E220-E230出版社
WILEY-BLACKWELL
DOI: 10.1002/humu.20851
关键词
Metachromatic leukodystrophy; MLD; demyelinating disorder; Arylsulfatase A; ARSA; Saposin-B; functional study; molecular analysis; modelling
资金
- Fondazione Telethon Funding Source: Custom
- Telethon [TGT06F03] Funding Source: Medline
Metachromatic leukodystrophy (MLD), the demyelinating disorder resulting from impaired sulfatide catabolism, is caused by allelic mutations of the Arylsulfatase A (ARSA) locus except for extremely rare cases of Saposin-B (Sap-B) deficiency. We characterized twenty-one unrelated Italian patients among which seventeen were due to ARSA activity deficiency and 4 others resulted from Saposin-B defect. Overall, we found 20 different mutant ARSA alleles and 2 different Sap-B alleles. The eleven new ARSA alleles (c.53C>A; c.88G>C; c.372G>A; c.409_411delCCC; c.634G>C; [c.650G>A; c.1108C>T]; c.845A>G; c.906G>C; c.919G>T; c.1102-3C>G; c.1126T>A) were functionally characterized and the novel amino acid changes were also modelled into the three-dimensional structure. The present study is aimed at providing a broader picture of the molecular basis of MLD in the Italian population. It also emphasizes the importance of a comprehensive evaluation in MLD diagnosis including biochemical, enzymatic and molecular investigations. (C) 2008 Wiley-Liss, Inc.
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