A novel arylsulfatase A protein variant and genotype in two patients with major depression

J Affect Disord. 1996 Oct 14;40(3):137-47. doi: 10.1016/0165-0327(96)00051-1.


A new, 'diffuse, multiple banding', electrophoretic variant of arylsulfatase A protein was found in two patients with major depression. Protein analyses showed that this variant and the normal enzyme differed in amino acid sequence and/or post-translational modifications unrelated to phosphate groups and oligomannose glycans. Analysis of the arylsulfatase A genes from a subject with the new variant identified three mutations; one gene had the two mutations associated with arylsulfatase A pseudodeficiency, and the other had a G to T transversion which changes a tryptophan to cysteine in the protein. These mutations result in an arylsulfatase A protein heteromer with diffuse electrophoretic banding. The possible association of these mutations with major depression is discussed.

Publication types

  • Research Support, Non-U.S. Gov't
  • Research Support, U.S. Gov't, P.H.S.

MeSH terms

  • Adult
  • Aged
  • Blood Protein Electrophoresis
  • Cerebroside-Sulfatase / deficiency
  • Cerebroside-Sulfatase / genetics*
  • DNA Mutational Analysis
  • Depressive Disorder / diagnosis
  • Depressive Disorder / enzymology
  • Depressive Disorder / genetics*
  • Female
  • Genetic Variation
  • Humans
  • Isoenzymes / genetics*
  • Leukodystrophy, Metachromatic / diagnosis
  • Leukodystrophy, Metachromatic / enzymology
  • Leukodystrophy, Metachromatic / genetics
  • Male
  • Middle Aged
  • Pedigree


  • Isoenzymes
  • Cerebroside-Sulfatase