Chitotriosidase activity as additional biomarker in the diagnosis of lysosomal storage diseases
To date, several genetic variants that lead to a deficiency of chitotriosidase activity have been described. The duplication of 24 bp (dup24bp) in exon 10 of the CHIT1 gene, which causes a complete loss of enzymatic activity of the gene product, is the most common among the European population. The...
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| Format: | Article |
| Language: | English |
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National Academy of Sciences of Ukraine, Palladin Institute of Biochemistry
2016-02-01
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| Series: | The Ukrainian Biochemical Journal |
| Online Access: | http://ukrbiochemjournal.org/wp-content/uploads/2016/03/Olkhovych_1_16.pdf |
| _version_ | 1797422273794146304 |
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| author | N. V. Olkhovych |
| author_facet | N. V. Olkhovych |
| author_sort | N. V. Olkhovych |
| collection | DOAJ |
| description | To date, several genetic variants that lead to a deficiency of chitotriosidase activity have been described. The duplication of 24 bp (dup24bp) in exon 10 of the CHIT1 gene, which causes a complete loss of enzymatic activity of the gene product, is the most common among the European population. The aim of the study was to evaluate the possibility of using chitotriosidase activity as an additional biomarker in diagnosis of lysosomal storage diseases (LSDs) in Ukraine, to determine this parameter in blood plasma of the patients with various lysosomal diseases and to assess the effect of the presence of dup24bp in the CHIT1 gene on this parameter. It has been shown that chitotriosidase activity in blood plasma is a convenient additional biochemical marker in the diagnosis of some LSDs, namely Gaucher disease, Niemann-Pick disease A, B, C and GM1-gangliosidosis. Reference ranges of the normal chitotriosidase activity were determined in blood plasma of Ukrainian population and found to be 8.0-53.1 nmol 4-methylumbelliferone/h·ml of plasma. The total allele frequency of the dup24bp in the CHIT1 gene in Ukrainian population was determined, which amounted to 0.26 (323/1244) that is higher than in European population. It was indicated that molecular-genetic screening of dup24bp in the CHIT1 gene is a necessary stage in a protocol for the laboratory diagnosis of Gaucher disease, Niemann-Pick disease A, B, C as well as GM1-gangliosidosis to avoid incorrect diagnosis. |
| first_indexed | 2024-03-09T07:29:50Z |
| format | Article |
| id | doaj.art-0b465a1f4e0847ca8dd40a9142eb03e1 |
| institution | Directory Open Access Journal |
| issn | 2409-4943 2413-5003 |
| language | English |
| last_indexed | 2024-03-09T07:29:50Z |
| publishDate | 2016-02-01 |
| publisher | National Academy of Sciences of Ukraine, Palladin Institute of Biochemistry |
| record_format | Article |
| series | The Ukrainian Biochemical Journal |
| spelling | doaj.art-0b465a1f4e0847ca8dd40a9142eb03e12023-12-03T06:27:16ZengNational Academy of Sciences of Ukraine, Palladin Institute of BiochemistryThe Ukrainian Biochemical Journal2409-49432413-50032016-02-01881697810.15407/ubj88.01.069Chitotriosidase activity as additional biomarker in the diagnosis of lysosomal storage diseasesN. V. Olkhovych0State Institute of Genetic and Regenerative Medicine of NAMS of Ukraine, Kyiv; National Children’s Hospital “OHMATDYT”, Ministry of Health of Ukraine, KyivTo date, several genetic variants that lead to a deficiency of chitotriosidase activity have been described. The duplication of 24 bp (dup24bp) in exon 10 of the CHIT1 gene, which causes a complete loss of enzymatic activity of the gene product, is the most common among the European population. The aim of the study was to evaluate the possibility of using chitotriosidase activity as an additional biomarker in diagnosis of lysosomal storage diseases (LSDs) in Ukraine, to determine this parameter in blood plasma of the patients with various lysosomal diseases and to assess the effect of the presence of dup24bp in the CHIT1 gene on this parameter. It has been shown that chitotriosidase activity in blood plasma is a convenient additional biochemical marker in the diagnosis of some LSDs, namely Gaucher disease, Niemann-Pick disease A, B, C and GM1-gangliosidosis. Reference ranges of the normal chitotriosidase activity were determined in blood plasma of Ukrainian population and found to be 8.0-53.1 nmol 4-methylumbelliferone/h·ml of plasma. The total allele frequency of the dup24bp in the CHIT1 gene in Ukrainian population was determined, which amounted to 0.26 (323/1244) that is higher than in European population. It was indicated that molecular-genetic screening of dup24bp in the CHIT1 gene is a necessary stage in a protocol for the laboratory diagnosis of Gaucher disease, Niemann-Pick disease A, B, C as well as GM1-gangliosidosis to avoid incorrect diagnosis.http://ukrbiochemjournal.org/wp-content/uploads/2016/03/Olkhovych_1_16.pdf |
| spellingShingle | N. V. Olkhovych Chitotriosidase activity as additional biomarker in the diagnosis of lysosomal storage diseases The Ukrainian Biochemical Journal |
| title | Chitotriosidase activity as additional biomarker in the diagnosis of lysosomal storage diseases |
| title_full | Chitotriosidase activity as additional biomarker in the diagnosis of lysosomal storage diseases |
| title_fullStr | Chitotriosidase activity as additional biomarker in the diagnosis of lysosomal storage diseases |
| title_full_unstemmed | Chitotriosidase activity as additional biomarker in the diagnosis of lysosomal storage diseases |
| title_short | Chitotriosidase activity as additional biomarker in the diagnosis of lysosomal storage diseases |
| title_sort | chitotriosidase activity as additional biomarker in the diagnosis of lysosomal storage diseases |
| url | http://ukrbiochemjournal.org/wp-content/uploads/2016/03/Olkhovych_1_16.pdf |
| work_keys_str_mv | AT nvolkhovych chitotriosidaseactivityasadditionalbiomarkerinthediagnosisoflysosomalstoragediseases |