A NOVEL ARYLSULFATASE-A PROTEIN VARIANT AND GENOTYPE IN 2 PATIENTS WITH MAJOR DEPRESSION

A new, 'diffuse, multiple banding', electrophoretic Variant of arylsul fatase A protein was found in two patients with major depression. Prot ein analyses showed that this variant and the normal enzyme differed i n amino acid sequence and/or post-translational modifications unrelate d to phosphate groups and oligomannose glycans. Analysis of the arylsu lfatase A genes from a subject with the new variant identified three m utations; one gene had the two mutations associated with arylsulfatase A pseudodeficiency, and the other had a G to T transversion which cha nges a tryptophan to cysteine in the protein, These mutations result i n an arylsulfatase A protein heteromer with diffuse eIectrophoretic ba nding. The possible association of these mutations with major depressi on is discussed.