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

Michael H. Ricketts, Jay D. Amsterdam, David S. Park, Rong Sheng Yang, Ronald D. Poretz, Xiaoping Zhang, Michelle Fanale, Andrew Baddoo, Paul Manowitz

Research output: Contribution to journalArticlepeer-review

9 Scopus citations


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.

Original languageEnglish (US)
Pages (from-to)137-147
Number of pages11
JournalJournal of Affective Disorders
Issue number3
StatePublished - Oct 14 1996
Externally publishedYes

All Science Journal Classification (ASJC) codes

  • Clinical Psychology
  • Psychiatry and Mental health


  • Arylsulfatase A
  • Depression
  • Gene mutation
  • Metachromatic leukodystrophy
  • Pseudodeficiency

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