Abstract
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 language | English (US) |
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Pages (from-to) | 137-147 |
Number of pages | 11 |
Journal | Journal of Affective Disorders |
Volume | 40 |
Issue number | 3 |
DOIs | |
State | Published - Oct 14 1996 |
Keywords
- Arylsulfatase A
- Depression
- Gene mutation
- Metachromatic leukodystrophy
- Pseudodeficiency
ASJC Scopus subject areas
- Clinical Psychology
- Psychiatry and Mental health