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Epidemiology and Genetics of Mucopolysaccharidosis Type VI in Russia

Mucopolysaccharidosis VI (MPS VI) is an autosomal recessive lysosomal storage disease caused by mutations in the arylsulfatase B gene (ARSB) and consequent deficient activity of ARSB, a lysosomal enzyme involved in the glycosaminoglycan (s) (GAGs) metabolism. Here, we present the results of the stud...

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Autores principales: Voskoboeva, Elena, Semyachkina, Alla, Miklyaev, Ochir, Gamzatova, Amina, Mikhaylova, Svetlana, Vashakmadze, Nato, Baydakova, Galina, Omzar, Olga, Pichkur, Natalia, Zakharova, Ekaterina, Kutsev, Sergey
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2022
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8804521/
https://www.ncbi.nlm.nih.gov/pubmed/35118118
http://dx.doi.org/10.3389/fmolb.2021.780184
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author Voskoboeva, Elena
Semyachkina, Alla
Miklyaev, Ochir
Gamzatova, Amina
Mikhaylova, Svetlana
Vashakmadze, Nato
Baydakova, Galina
Omzar, Olga
Pichkur, Natalia
Zakharova, Ekaterina
Kutsev, Sergey
author_facet Voskoboeva, Elena
Semyachkina, Alla
Miklyaev, Ochir
Gamzatova, Amina
Mikhaylova, Svetlana
Vashakmadze, Nato
Baydakova, Galina
Omzar, Olga
Pichkur, Natalia
Zakharova, Ekaterina
Kutsev, Sergey
author_sort Voskoboeva, Elena
collection PubMed
description Mucopolysaccharidosis VI (MPS VI) is an autosomal recessive lysosomal storage disease caused by mutations in the arylsulfatase B gene (ARSB) and consequent deficient activity of ARSB, a lysosomal enzyme involved in the glycosaminoglycan (s) (GAGs) metabolism. Here, we present the results of the study of ARSB DNA analysis in MPS VI patients in the Russian Federation (RF) and other republics of the Former Soviet Union. In a cohort of 68 patients (57 families) with MPS VI, a total of 28 different pathogenic alleles were found. The most prevalent nucleotide changes included NM_000046.5:c.194C>T and NM_000046.5:c.454C>T. Five pathogenic alleles were novel, not previously reported (NM_000046.5:c.304C>G, NM_000046.5:c.533A>G, NM_000046.5:c.941T>C, NM_000046.5:c.447_456del10, and NM_000046.5:c.990_10003del14). The nucleotide variant NM_000045.6:c.454C>T was the prevalent allele among Slavic Russian patients. The nucleotide variant NM_000045.6:c.194C>T was found only in MPS VI families from the Republic of Dagestan. Based on the analysis of dry blood spots (DBSs) collected from newborns in this RF region, we showed the frequency of this mutant allele in the Republic of Dagestan to be 0.01 corresponding to the MPS VI frequency of nearly 1:10,000, which is one of the highest worldwide. This may eventually make the selective asymptomatic carrier test and newborn screening highly feasible in this region of the country.
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spelling pubmed-88045212022-02-02 Epidemiology and Genetics of Mucopolysaccharidosis Type VI in Russia Voskoboeva, Elena Semyachkina, Alla Miklyaev, Ochir Gamzatova, Amina Mikhaylova, Svetlana Vashakmadze, Nato Baydakova, Galina Omzar, Olga Pichkur, Natalia Zakharova, Ekaterina Kutsev, Sergey Front Mol Biosci Molecular Biosciences Mucopolysaccharidosis VI (MPS VI) is an autosomal recessive lysosomal storage disease caused by mutations in the arylsulfatase B gene (ARSB) and consequent deficient activity of ARSB, a lysosomal enzyme involved in the glycosaminoglycan (s) (GAGs) metabolism. Here, we present the results of the study of ARSB DNA analysis in MPS VI patients in the Russian Federation (RF) and other republics of the Former Soviet Union. In a cohort of 68 patients (57 families) with MPS VI, a total of 28 different pathogenic alleles were found. The most prevalent nucleotide changes included NM_000046.5:c.194C>T and NM_000046.5:c.454C>T. Five pathogenic alleles were novel, not previously reported (NM_000046.5:c.304C>G, NM_000046.5:c.533A>G, NM_000046.5:c.941T>C, NM_000046.5:c.447_456del10, and NM_000046.5:c.990_10003del14). The nucleotide variant NM_000045.6:c.454C>T was the prevalent allele among Slavic Russian patients. The nucleotide variant NM_000045.6:c.194C>T was found only in MPS VI families from the Republic of Dagestan. Based on the analysis of dry blood spots (DBSs) collected from newborns in this RF region, we showed the frequency of this mutant allele in the Republic of Dagestan to be 0.01 corresponding to the MPS VI frequency of nearly 1:10,000, which is one of the highest worldwide. This may eventually make the selective asymptomatic carrier test and newborn screening highly feasible in this region of the country. Frontiers Media S.A. 2022-01-18 /pmc/articles/PMC8804521/ /pubmed/35118118 http://dx.doi.org/10.3389/fmolb.2021.780184 Text en Copyright © 2022 Voskoboeva, Semyachkina, Miklyaev, Gamzatova, Mikhaylova, Vashakmadze, Baydakova, Omzar, Pichkur, Zakharova and Kutsev. https://creativecommons.org/licenses/by/4.0/This is an open-access article distributed under the terms of the Creative Commons Attribution License (CC BY). The use, distribution or reproduction in other forums is permitted, provided the original author(s) and the copyright owner(s) are credited and that the original publication in this journal is cited, in accordance with accepted academic practice. No use, distribution or reproduction is permitted which does not comply with these terms.
spellingShingle Molecular Biosciences
Voskoboeva, Elena
Semyachkina, Alla
Miklyaev, Ochir
Gamzatova, Amina
Mikhaylova, Svetlana
Vashakmadze, Nato
Baydakova, Galina
Omzar, Olga
Pichkur, Natalia
Zakharova, Ekaterina
Kutsev, Sergey
Epidemiology and Genetics of Mucopolysaccharidosis Type VI in Russia
title Epidemiology and Genetics of Mucopolysaccharidosis Type VI in Russia
title_full Epidemiology and Genetics of Mucopolysaccharidosis Type VI in Russia
title_fullStr Epidemiology and Genetics of Mucopolysaccharidosis Type VI in Russia
title_full_unstemmed Epidemiology and Genetics of Mucopolysaccharidosis Type VI in Russia
title_short Epidemiology and Genetics of Mucopolysaccharidosis Type VI in Russia
title_sort epidemiology and genetics of mucopolysaccharidosis type vi in russia
topic Molecular Biosciences
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8804521/
https://www.ncbi.nlm.nih.gov/pubmed/35118118
http://dx.doi.org/10.3389/fmolb.2021.780184
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