Defective oligomerization of arylsulfatase a as a cause of its instability in lysosomes and metachromatic leukodystrophy

J Biol Chem. 2002 Mar 15;277(11):9455-61. doi: 10.1074/jbc.M111993200. Epub 2002 Jan 2.

Abstract

In one of the most common mutations causing metachromatic leukodystrophy, the P426L-allele of arylsulfatase A (ASA), the deficiency of ASA results from its instability in lysosomes. Inhibition of lysosomal cysteine proteinases protects the P426L-ASA and restores the sulfatide catabolism in fibroblasts of the patients. P426L-ASA, but not wild type ASA, was cleaved by purified cathepsin L at threonine 421 yielding 54- and 9-kDa fragments. X-ray crystallography at 2.5-A resolution showed that cleavage is not due to a difference in the protein fold that would expose the peptide bond following threonine 421 to proteases. Octamerization, which depends on protonation of Glu-424, was impaired for P426L-ASA. The mutation lowers the pH for the octamer/dimer equilibrium by 0.6 pH units from pH 5.8 to 5.2. A second oligomerization mutant (ASA-A464R) was generated that failed to octamerize even at pH 4.8. A464R-ASA was degraded in lysosomes to catalytically active 54-kDa intermediate. In cathepsin L-deficient fibroblasts, degradation of P426L-ASA and A464R-ASA to the 54-kDa fragment was reduced, while further degradation was blocked. This indicates that defective oligomerization of ASA allows degradation of ASA to a catalytically active 54-kDa intermediate by lysosomal cysteine proteinases, including cathepsin L. Further degradation of the 54-kDa intermediate critically depends on cathepsin L and is modified by the structure of the 9-kDa cleavage product.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Amino Acid Sequence
  • Cathepsin L
  • Cathepsins / metabolism
  • Cerebroside-Sulfatase / chemistry*
  • Cerebroside-Sulfatase / metabolism
  • Cysteine Endopeptidases
  • Dimerization
  • Enzyme Stability
  • Humans
  • Hydrogen-Ion Concentration
  • Leukodystrophy, Metachromatic / enzymology*
  • Leukodystrophy, Metachromatic / therapy
  • Lysosomes / enzymology*
  • Molecular Sequence Data
  • Protein Conformation
  • Structure-Activity Relationship

Substances

  • Cerebroside-Sulfatase
  • Cathepsins
  • Cysteine Endopeptidases
  • CTSL protein, human
  • Cathepsin L

Associated data

  • PDB/1E33