Lysosomal storage diseases. Glycoproteinoses — oligosaccharidoses

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The epidemiology, clinical, biochemical and molecular genetic characteristics of oligosaccharidoses are presented — a group of rare autosomal recessive lysosomal diseases, includes sialidosis, mannosidosis, fucosidosis, aspartylglucosaminuria and α-N-acetylgalactosaminidase deficiency. All these diseases are caused by impaired catabolism of glycoproteins and excessive accumulation of various types of oligosaccharides in lysosomes. Clinically, they are characterized by progressive neuropsychiatric disorders combined with a mild gurler-like phenotype. Two genetically heterogeneous variants of alpha- and beta-mannosidosis are caused by mutations in the MAN2B1 and MANBA genes, respectively, and hereditary deficiency of two related α- and β-mannosidases. The cause of the development of fucosidosis is inactivating mutations in the FUCA1 gene, leading to deficiency of lysosomal α-L-fucosidase and accumulation of fucoglycoproteins and fucoglycolipids. The pathogenesis of aspartylglucosaminuria is associated with impaired catabolism of aspartylglucosamine and its accumulation in the lysosomes of liver, spleen, thyroid, kidney and brain cells. The cause of α-N-acetylgalactosaminidase deficiency is mutations in the NAGA gene and the accumulation of uncleaved glycoconjugants in lysosomes. A description of existing experimental models is presented and their role in studying the pathogenesis of these severe lysosomal diseases and the development of various therapeutic approaches is discussed. The most successful treatment for alpha-mannosidosis has been enzyme replacement therapy using a recombinant enzyme — velmanase alfa, which has already passed phase III clinical trials and is used in clinical practice. Pathogenetic treatments for the other oligosaccharidoses discussed here have not been described, although preclinical trials have shown promise for hematopoietic stem cell transplantation and gene therapy for the treatment of β-mannosidosis and aspartyl glucosaminuria, respectively.

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作者简介

Victoria Gorbunova

Saint Petersburg State Pediatric Medical University

编辑信件的主要联系方式.
Email: vngor@mail.ru

PhD, Dr. Sci. (Biology), Professor, Department of Medical Genetics

俄罗斯联邦, Saint Petersburg

Natalia Buchinskaia

Saint Petersburg State Pediatric Medical University; Medical Diagnostic Center (Genetic medical center)

Email: nbuchinskaia@gmail.com
ORCID iD: 0000-0002-2335-3023
SPIN 代码: 4820-4246

MD, PhD, pediatrician, geneticist, Сonsulting Department, Medical Diagnostic Center (Genetic medical center); Assistant, Department of Hospital Pediatrics, Saint Petersburg State Pediatric Medical University, Ministry of Health of the Russian Federation

俄罗斯联邦, Saint Petersburg; Saint Petersburg

Anastasia Vechkasova

Medical Diagnostic Center (Genetic medical center)

Email: vechkasova.nastia@mail.ru
ORCID iD: 0009-0004-8775-9630
SPIN 代码: 2642-3514

geneticist, Consulting Department

俄罗斯联邦, Saint Petersburg

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Регистрационный номер и дата принятия решения о регистрации СМИ: серия ПИ № ФС 77 - 69634 от 15.03.2021 г.