A novel arylsulfatase A protein variant and genotype in two patients with major depression.
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.
Ricketts
M H
MH
Department of Psychiatry, University of Medicine and Dentistry of New Jersey-Robert Wood Johnson Medical School, Piscataway 08854, USA.
Amsterdam
J D
JD
Park
D S
DS
Yang
R S
RS
Poretz
R D
RD
Zhang
X
X
Fanale
M
M
Baddoo
A
A
Manowitz
P
P
D000328:Adult; D000368:Aged; D001797:Blood Protein Electrophoresis; D002553:Cerebroside-Sulfatase / Q000172:deficiency / Q000235:genetics*; D004252:DNA Mutational Analysis; D003866:Depressive Disorder / Q000175:diagnosis / Q000201:enzymology / Q000235:genetics*; D005260:Female; D014644:Genetic Variation; D006801:Humans; D007527:Isoenzymes / Q000235:genetics*; D007966:Leukodystrophy, Metachromatic / Q000175:diagnosis / Q000201:enzymology / Q000235:genetics; D008297:Male; D008875:Middle Aged; D010375:Pedigree
D007527:Isoenzymes; D002553:Cerebroside-Sulfatase