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Altered sphingolipid hydrolase activities and alpha-synuclein level in late-onset schizophrenia
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  • Tatiana Usenko,
  • Anastasia Bezrukova,
  • Katerina Basharova,
  • Galina Baydakova,
  • Elena Shagimardanova,
  • Nataliya Blatt,
  • Albert Rizvanov,
  • Oleg Limankin,
  • Maxim Novitsky,
  • Natalia Shnayder,
  • Artem Izyumchenko,
  • Mikhail Nikolaev,
  • Anna Lavrinova,
  • Darya Kulabukhova,
  • Anna Zabotina,
  • Regina Nasyrova,
  • Ekaterina Palchikova,
  • Natalya Zalutskaya,
  • Irina Miliukhina,
  • Yury Barbitoff,
  • Oleg Glotov,
  • Andrey Glotov,
  • Anastasia Taraskina,
  • Nikolay Neznanov,
  • Ekatherina Zakharova,
  • Sofya Pchelina
Tatiana Usenko
Petersburg Nuclear Physics Institute named after B P Konstantinov

Corresponding Author:usenko_ts@pnpi.nrcki.ru

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Anastasia Bezrukova
Petersburg Nuclear Physics Institute named after B P Konstantinov
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Katerina Basharova
Petersburg Nuclear Physics Institute named after B P Konstantinov
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Galina Baydakova
Petersburg Nuclear Physics Institute named after B P Konstantinov
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Elena Shagimardanova
Kazan Federal University
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Nataliya Blatt
Kazan Federal University
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Albert Rizvanov
Kazanskij federal'nyj universitet
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Oleg Limankin
North-Western State Medical University named after I I Mechnikov
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Maxim Novitsky
FSBI National Medical Research Centre of Psychiatry and Neurology named after V M Bekhterev of the Ministry of Health of the Russian Federation
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Natalia Shnayder
FSBI National Medical Research Centre of Psychiatry and Neurology named after V M Bekhterev of the Ministry of Health of the Russian Federation
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Artem Izyumchenko
First Pavlov State Medical University of Saint Peterburg
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Mikhail Nikolaev
First Pavlov State Medical University of Saint Peterburg
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Anna Lavrinova
Petersburg Nuclear Physics Institute named after B P Konstantinov
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Darya Kulabukhova
Petersburg Nuclear Physics Institute named after B P Konstantinov
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Anna Zabotina
First Pavlov State Medical University of Saint Peterburg
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Regina Nasyrova
FSBIS N P Bechtereva Institute of the Human Brain of the Russian Academy of Sciences
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Ekaterina Palchikova
FSBIS N P Bechtereva Institute of the Human Brain of the Russian Academy of Sciences
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Natalya Zalutskaya
FSBIS N P Bechtereva Institute of the Human Brain of the Russian Academy of Sciences
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Irina Miliukhina
FSBIS N P Bechtereva Institute of the Human Brain of the Russian Academy of Sciences
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Yury Barbitoff
Bioinformatics Institute
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Oleg Glotov
Bioinformatics Institute
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Andrey Glotov
St Petersburg State University
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Anastasia Taraskina
First Pavlov State Medical University of Saint Peterburg
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Nikolay Neznanov
FSBI National Medical Research Centre of Psychiatry and Neurology named after V M Bekhterev of the Ministry of Health of the Russian Federation
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Ekatherina Zakharova
Research Center for Medical Genetics
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Sofya Pchelina
First Pavlov State Medical University of Saint Peterburg
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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.
30 Jun 2023Submitted to European Journal of Neuroscience
01 Jul 2023Submission Checks Completed
01 Jul 2023Assigned to Editor
01 Jul 2023Review(s) Completed, Editorial Evaluation Pending
10 Jul 2023Reviewer(s) Assigned