Altered sphingolipid hydrolase activities and alpha-synuclein level in
late-onset schizophrenia
Abstract
Last data described that patients with lysosomal storage disorders
(LSDs) may have clinical schizophrenia (SCZ). The lysosomal dysfunction
in SCZ pathogenesis, in particularly, due to the critical role of
lysosomal function for neuronal cells could be proposed. The current
study focused on the estimation of lysosomal enzyme activities and
alpha-synuclein level in blood cells of patients with late-onset SCZ. 52
SCZ patients with late-onset SCZ, 180 sporadic Parkinson’s disease (sPD)
patients, 176 controls were recruited. The enzymatic activity of enzymes
associated with mucopolysaccharidosis (alpha-L-Iduronidase (IDUA)),
glycogenosis (acid alpha-glucosidase (GAA)) and sphingolipidosis
(galactosylceramidase (GALC), glucocerebrosidase (GCase),
alpha-galactosidase (GLA), acid sphingomyelinase (ASMase)) was measured
by LC-MS/MS in blood. Alpha-synuclein level was estimated in
magnetically separated CD45+ blood cells by the enzyme-linked
immunosorbent assay (ELISA). NGS analysis of 11 LSDs genes was conducted
in 21 early-onset SCZ patients and 23 controls using the gene panel
PGRNseq-NDD. Decreased ASMase and increased GLA activities and increased
alpha-synuclein level were observed in late-onset SCZ patients in
comparison to controls (p<0.05). 4 rare deleterious variants
among LSDs genes causing mucopolysaccharidosis type I (IDUA
(rs532731688, rs74385837) and type III (HGSNAT (rs766835582)) and
sphingolipidosis (metachromatic leukodystrophy (ARSA (rs201251634)) were
identified in five patients from group of early-onset SCZ but not in
controls. Our findings supported the role of sphingolipid metabolism in
SCZ pathogenesis. Aberrant enzyme activities and compound of
sphingolipids associated with ceramide metabolism may lead to
accumulation of alpha-synuclein and be a critical in SCZ.