SMPD1 gene variants in patients with β-Thalassemia major
Background β-thalassemia major and Niemann-Pick diseases have similar clinical and laboratory findings. We aimed to investigate the effects of sphingomyelin phosphodiesterase 1 ( SMPD1 ) gene variants on the clinical and laboratory findings in patients with β-thalassemia major. Methods and results T...
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| Veröffentlicht in: | Molecular biology reports 2023-04, Vol.50 (4), p.3355-3363 |
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| creator | Dursun, Fadime Ersoy Özen, Filiz |
| description | Background
β-thalassemia major and Niemann-Pick diseases have similar clinical and laboratory findings. We aimed to investigate the effects of sphingomyelin phosphodiesterase 1 (
SMPD1
) gene variants on the clinical and laboratory findings in patients with β-thalassemia major.
Methods and results
This study included 45 patients who were followed up for β-thalassemia major in our clinic. Plasma chitotriosidase, leukocyte acid sphingomyelinase, liver enzymes, ferritin, hemogram, biochemical parameters,
SMPD1
gene variant analysis, cardiac T2* MRI, and liver R2 MRI were assessed in all patients. The
SMPD1
gene
c.132_143del, p.A46_L49del (c.108GCTGGC
[
4
]
(p.38AL
[
4
]
)) (rs3838786)
variant was detected in 9 of 45 (20.0%) patients. Plasma chitotriosidase, ferritin, acetyl aminotransferase, and alanine aminotransferase levels were significantly higher in patients with the gene variant than in those without (p |
| doi_str_mv | 10.1007/s11033-023-08275-x |
| format | Article |
| fullrecord | <record><control><sourceid>proquest_pubme</sourceid><recordid>TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_10042979</recordid><sourceformat>XML</sourceformat><sourcesystem>PC</sourcesystem><sourcerecordid>2771942467</sourcerecordid><originalsourceid>FETCH-LOGICAL-c459t-952adfe6499dd75e5f5bb2d57743a2f5db8f4815606ec3d7e6538000c85becee3</originalsourceid><addsrcrecordid>eNqFkctOHDEQRS0UFCYkP8AiaikbNg1-dtmrCEECSCCQQtaWu7t6xqN-DHYPIb-VD-GbMAzvBVlYtlSnbl3XJWSL0R1GKexGxqgQOeXpaA4qv14jE6ZA5NKA_kAmVFCWS63YBvkU45xSKhmoj2RDFMAVSJgQ8-v0_IBlU-wxu3LBu36Mme-zhRs93r3_-HGW3fzLL2audTFi513WufkQPpP1xrURvzzcm-T3zx8X-0f5ydnh8f7eSV5JZcbcKO7qBgtpTF2DQtWosuS1ApDC8UbVpW6kZqqgBVaiBiyU0MlppVWJFaLYJN9Xuotl2WFdJVfBtXYRfOfCXzs4b19Xej-z0-HKph1JbsAkhe0HhTBcLjGOtvOxwrZ1PQ7LaLmWRpu0puL_KAAzkssCEvrtDToflqFPq0iUYVIIbUSi-IqqwhBjwObJOKN3DsGuUrQpRXufor1OTV9ffvmp5TG2BIgVEFOpn2J4nv2O7C0U3Kg3</addsrcrecordid><sourcetype>Open Access Repository</sourcetype><iscdi>true</iscdi><recordtype>article</recordtype><pqid>2791433893</pqid></control><display><type>article</type><title>SMPD1 gene variants in patients with β-Thalassemia major</title><source>MEDLINE</source><source>SpringerLink Journals - AutoHoldings</source><creator>Dursun, Fadime Ersoy ; Özen, Filiz</creator><creatorcontrib>Dursun, Fadime Ersoy ; Özen, Filiz</creatorcontrib><description>Background
β-thalassemia major and Niemann-Pick diseases have similar clinical and laboratory findings. We aimed to investigate the effects of sphingomyelin phosphodiesterase 1 (
SMPD1
) gene variants on the clinical and laboratory findings in patients with β-thalassemia major.
Methods and results
This study included 45 patients who were followed up for β-thalassemia major in our clinic. Plasma chitotriosidase, leukocyte acid sphingomyelinase, liver enzymes, ferritin, hemogram, biochemical parameters,
SMPD1
gene variant analysis, cardiac T2* MRI, and liver R2 MRI were assessed in all patients. The
SMPD1
gene
c.132_143del, p.A46_L49del (c.108GCTGGC
[
4
]
(p.38AL
[
4
]
)) (rs3838786)
variant was detected in 9 of 45 (20.0%) patients. Plasma chitotriosidase, ferritin, acetyl aminotransferase, and alanine aminotransferase levels were significantly higher in patients with the gene variant than in those without (p < 0.05). Leukocyte acid sphingomyelinase levels were significantly lower in patients with the gene variant than in those without (p < 0.05).
Conclusion
These results imply that the clinical and laboratory findings and some features of disease progression in patients with β-thalassemia major are similar to those of Niemann-Pick disease. They also suggest that
SMPD1
gene
c.132_143del, p.A46_L49del (c.108GCTGGC
[
4
]
(p.38AL
[
4
]
)) (rs3838786)
variant may underlie these clinical findings in patients with β-thalassemia major.</description><identifier>ISSN: 0301-4851</identifier><identifier>EISSN: 1573-4978</identifier><identifier>DOI: 10.1007/s11033-023-08275-x</identifier><identifier>PMID: 36725747</identifier><language>eng</language><publisher>Dordrecht: Springer Netherlands</publisher><subject>Alanine transaminase ; Animal Anatomy ; Animal Biochemistry ; beta-Thalassemia - genetics ; Biomedical and Life Sciences ; Blood diseases ; disease progression ; Exons ; Ferritin ; genes ; Histology ; Humans ; Laboratories ; leukocytes ; Life Sciences ; Liver ; Magnetic resonance imaging ; Morphology ; Mutation - genetics ; Niemann-Pick disease ; Original ; Original Article ; Sphingomyelin phosphodiesterase ; Sphingomyelin Phosphodiesterase - genetics ; sphingomyelins ; Thalassemia</subject><ispartof>Molecular biology reports, 2023-04, Vol.50 (4), p.3355-3363</ispartof><rights>The Author(s) 2023</rights><rights>2023. The Author(s).</rights><rights>The Author(s) 2023. This work is published under http://creativecommons.org/licenses/by/4.0/ (the “License”). Notwithstanding the ProQuest Terms and Conditions, you may use this content in accordance with the terms of the License.</rights><lds50>peer_reviewed</lds50><oa>free_for_read</oa><woscitedreferencessubscribed>false</woscitedreferencessubscribed><cites>FETCH-LOGICAL-c459t-952adfe6499dd75e5f5bb2d57743a2f5db8f4815606ec3d7e6538000c85becee3</cites><orcidid>0000-0001-9187-5387 ; 0000-0002-3577-188X</orcidid></display><links><openurl>$$Topenurl_article</openurl><openurlfulltext>$$Topenurlfull_article</openurlfulltext><thumbnail>$$Tsyndetics_thumb_exl</thumbnail><linktopdf>$$Uhttps://link.springer.com/content/pdf/10.1007/s11033-023-08275-x$$EPDF$$P50$$Gspringer$$Hfree_for_read</linktopdf><linktohtml>$$Uhttps://link.springer.com/10.1007/s11033-023-08275-x$$EHTML$$P50$$Gspringer$$Hfree_for_read</linktohtml><link.rule.ids>230,314,780,784,885,27915,27916,41479,42548,51310</link.rule.ids><backlink>$$Uhttps://www.ncbi.nlm.nih.gov/pubmed/36725747$$D View this record in MEDLINE/PubMed$$Hfree_for_read</backlink></links><search><creatorcontrib>Dursun, Fadime Ersoy</creatorcontrib><creatorcontrib>Özen, Filiz</creatorcontrib><title>SMPD1 gene variants in patients with β-Thalassemia major</title><title>Molecular biology reports</title><addtitle>Mol Biol Rep</addtitle><addtitle>Mol Biol Rep</addtitle><description>Background
β-thalassemia major and Niemann-Pick diseases have similar clinical and laboratory findings. We aimed to investigate the effects of sphingomyelin phosphodiesterase 1 (
SMPD1
) gene variants on the clinical and laboratory findings in patients with β-thalassemia major.
Methods and results
This study included 45 patients who were followed up for β-thalassemia major in our clinic. Plasma chitotriosidase, leukocyte acid sphingomyelinase, liver enzymes, ferritin, hemogram, biochemical parameters,
SMPD1
gene variant analysis, cardiac T2* MRI, and liver R2 MRI were assessed in all patients. The
SMPD1
gene
c.132_143del, p.A46_L49del (c.108GCTGGC
[
4
]
(p.38AL
[
4
]
)) (rs3838786)
variant was detected in 9 of 45 (20.0%) patients. Plasma chitotriosidase, ferritin, acetyl aminotransferase, and alanine aminotransferase levels were significantly higher in patients with the gene variant than in those without (p < 0.05). Leukocyte acid sphingomyelinase levels were significantly lower in patients with the gene variant than in those without (p < 0.05).
Conclusion
These results imply that the clinical and laboratory findings and some features of disease progression in patients with β-thalassemia major are similar to those of Niemann-Pick disease. They also suggest that
SMPD1
gene
c.132_143del, p.A46_L49del (c.108GCTGGC
[
4
]
(p.38AL
[
4
]
)) (rs3838786)
variant may underlie these clinical findings in patients with β-thalassemia major.</description><subject>Alanine transaminase</subject><subject>Animal Anatomy</subject><subject>Animal Biochemistry</subject><subject>beta-Thalassemia - genetics</subject><subject>Biomedical and Life Sciences</subject><subject>Blood diseases</subject><subject>disease progression</subject><subject>Exons</subject><subject>Ferritin</subject><subject>genes</subject><subject>Histology</subject><subject>Humans</subject><subject>Laboratories</subject><subject>leukocytes</subject><subject>Life Sciences</subject><subject>Liver</subject><subject>Magnetic resonance imaging</subject><subject>Morphology</subject><subject>Mutation - genetics</subject><subject>Niemann-Pick disease</subject><subject>Original</subject><subject>Original Article</subject><subject>Sphingomyelin phosphodiesterase</subject><subject>Sphingomyelin Phosphodiesterase - genetics</subject><subject>sphingomyelins</subject><subject>Thalassemia</subject><issn>0301-4851</issn><issn>1573-4978</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>2023</creationdate><recordtype>article</recordtype><sourceid>C6C</sourceid><sourceid>EIF</sourceid><sourceid>ABUWG</sourceid><sourceid>AFKRA</sourceid><sourceid>AZQEC</sourceid><sourceid>BENPR</sourceid><sourceid>CCPQU</sourceid><sourceid>DWQXO</sourceid><sourceid>GNUQQ</sourceid><recordid>eNqFkctOHDEQRS0UFCYkP8AiaikbNg1-dtmrCEECSCCQQtaWu7t6xqN-DHYPIb-VD-GbMAzvBVlYtlSnbl3XJWSL0R1GKexGxqgQOeXpaA4qv14jE6ZA5NKA_kAmVFCWS63YBvkU45xSKhmoj2RDFMAVSJgQ8-v0_IBlU-wxu3LBu36Mme-zhRs93r3_-HGW3fzLL2audTFi513WufkQPpP1xrURvzzcm-T3zx8X-0f5ydnh8f7eSV5JZcbcKO7qBgtpTF2DQtWosuS1ApDC8UbVpW6kZqqgBVaiBiyU0MlppVWJFaLYJN9Xuotl2WFdJVfBtXYRfOfCXzs4b19Xej-z0-HKph1JbsAkhe0HhTBcLjGOtvOxwrZ1PQ7LaLmWRpu0puL_KAAzkssCEvrtDToflqFPq0iUYVIIbUSi-IqqwhBjwObJOKN3DsGuUrQpRXufor1OTV9ffvmp5TG2BIgVEFOpn2J4nv2O7C0U3Kg3</recordid><startdate>20230401</startdate><enddate>20230401</enddate><creator>Dursun, Fadime Ersoy</creator><creator>Özen, Filiz</creator><general>Springer Netherlands</general><general>Springer Nature B.V</general><scope>C6C</scope><scope>CGR</scope><scope>CUY</scope><scope>CVF</scope><scope>ECM</scope><scope>EIF</scope><scope>NPM</scope><scope>AAYXX</scope><scope>CITATION</scope><scope>3V.</scope><scope>7TK</scope><scope>7TM</scope><scope>7X7</scope><scope>7XB</scope><scope>88A</scope><scope>88E</scope><scope>88I</scope><scope>8AO</scope><scope>8FD</scope><scope>8FE</scope><scope>8FH</scope><scope>8FI</scope><scope>8FJ</scope><scope>8FK</scope><scope>ABUWG</scope><scope>AFKRA</scope><scope>AZQEC</scope><scope>BBNVY</scope><scope>BENPR</scope><scope>BHPHI</scope><scope>CCPQU</scope><scope>DWQXO</scope><scope>FR3</scope><scope>FYUFA</scope><scope>GHDGH</scope><scope>GNUQQ</scope><scope>HCIFZ</scope><scope>K9.</scope><scope>LK8</scope><scope>M0S</scope><scope>M1P</scope><scope>M2P</scope><scope>M7P</scope><scope>P64</scope><scope>PQEST</scope><scope>PQQKQ</scope><scope>PQUKI</scope><scope>PRINS</scope><scope>Q9U</scope><scope>RC3</scope><scope>7X8</scope><scope>7S9</scope><scope>L.6</scope><scope>5PM</scope><orcidid>https://orcid.org/0000-0001-9187-5387</orcidid><orcidid>https://orcid.org/0000-0002-3577-188X</orcidid></search><sort><creationdate>20230401</creationdate><title>SMPD1 gene variants in patients with β-Thalassemia major</title><author>Dursun, Fadime Ersoy ; Özen, Filiz</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-c459t-952adfe6499dd75e5f5bb2d57743a2f5db8f4815606ec3d7e6538000c85becee3</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng</language><creationdate>2023</creationdate><topic>Alanine transaminase</topic><topic>Animal Anatomy</topic><topic>Animal Biochemistry</topic><topic>beta-Thalassemia - genetics</topic><topic>Biomedical and Life Sciences</topic><topic>Blood diseases</topic><topic>disease progression</topic><topic>Exons</topic><topic>Ferritin</topic><topic>genes</topic><topic>Histology</topic><topic>Humans</topic><topic>Laboratories</topic><topic>leukocytes</topic><topic>Life Sciences</topic><topic>Liver</topic><topic>Magnetic resonance imaging</topic><topic>Morphology</topic><topic>Mutation - genetics</topic><topic>Niemann-Pick disease</topic><topic>Original</topic><topic>Original Article</topic><topic>Sphingomyelin phosphodiesterase</topic><topic>Sphingomyelin Phosphodiesterase - genetics</topic><topic>sphingomyelins</topic><topic>Thalassemia</topic><toplevel>peer_reviewed</toplevel><toplevel>online_resources</toplevel><creatorcontrib>Dursun, Fadime Ersoy</creatorcontrib><creatorcontrib>Özen, Filiz</creatorcontrib><collection>Springer Nature OA Free Journals</collection><collection>Medline</collection><collection>MEDLINE</collection><collection>MEDLINE (Ovid)</collection><collection>MEDLINE</collection><collection>MEDLINE</collection><collection>PubMed</collection><collection>CrossRef</collection><collection>ProQuest Central (Corporate)</collection><collection>Neurosciences Abstracts</collection><collection>Nucleic Acids Abstracts</collection><collection>ProQuest Health & Medical Collection</collection><collection>ProQuest Central (purchase pre-March 2016)</collection><collection>Biology Database (Alumni Edition)</collection><collection>Medical Database (Alumni Edition)</collection><collection>Science Database (Alumni Edition)</collection><collection>ProQuest Pharma Collection</collection><collection>Technology Research Database</collection><collection>ProQuest SciTech Collection</collection><collection>ProQuest Natural Science Collection</collection><collection>Hospital Premium Collection</collection><collection>Hospital Premium Collection (Alumni Edition)</collection><collection>ProQuest Central (Alumni) (purchase pre-March 2016)</collection><collection>ProQuest Central (Alumni)</collection><collection>ProQuest Central</collection><collection>ProQuest Central Essentials</collection><collection>Biological Science Collection</collection><collection>ProQuest Central</collection><collection>ProQuest Natural Science Collection</collection><collection>ProQuest One Community College</collection><collection>ProQuest Central</collection><collection>Engineering Research Database</collection><collection>Health Research Premium Collection</collection><collection>Health Research Premium Collection (Alumni)</collection><collection>ProQuest Central Student</collection><collection>SciTech Premium Collection</collection><collection>ProQuest Health & Medical Complete (Alumni)</collection><collection>ProQuest Biological Science Collection</collection><collection>Health & Medical Collection (Alumni Edition)</collection><collection>PML(ProQuest Medical Library)</collection><collection>ProQuest Science Journals</collection><collection>Biological Science Database</collection><collection>Biotechnology and BioEngineering Abstracts</collection><collection>ProQuest One Academic Eastern Edition (DO NOT USE)</collection><collection>ProQuest One Academic</collection><collection>ProQuest One Academic UKI Edition</collection><collection>ProQuest Central China</collection><collection>ProQuest Central Basic</collection><collection>Genetics Abstracts</collection><collection>MEDLINE - Academic</collection><collection>AGRICOLA</collection><collection>AGRICOLA - Academic</collection><collection>PubMed Central (Full Participant titles)</collection><jtitle>Molecular biology reports</jtitle></facets><delivery><delcategory>Remote Search Resource</delcategory><fulltext>fulltext</fulltext></delivery><addata><au>Dursun, Fadime Ersoy</au><au>Özen, Filiz</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>SMPD1 gene variants in patients with β-Thalassemia major</atitle><jtitle>Molecular biology reports</jtitle><stitle>Mol Biol Rep</stitle><addtitle>Mol Biol Rep</addtitle><date>2023-04-01</date><risdate>2023</risdate><volume>50</volume><issue>4</issue><spage>3355</spage><epage>3363</epage><pages>3355-3363</pages><issn>0301-4851</issn><eissn>1573-4978</eissn><abstract>Background
β-thalassemia major and Niemann-Pick diseases have similar clinical and laboratory findings. We aimed to investigate the effects of sphingomyelin phosphodiesterase 1 (
SMPD1
) gene variants on the clinical and laboratory findings in patients with β-thalassemia major.
Methods and results
This study included 45 patients who were followed up for β-thalassemia major in our clinic. Plasma chitotriosidase, leukocyte acid sphingomyelinase, liver enzymes, ferritin, hemogram, biochemical parameters,
SMPD1
gene variant analysis, cardiac T2* MRI, and liver R2 MRI were assessed in all patients. The
SMPD1
gene
c.132_143del, p.A46_L49del (c.108GCTGGC
[
4
]
(p.38AL
[
4
]
)) (rs3838786)
variant was detected in 9 of 45 (20.0%) patients. Plasma chitotriosidase, ferritin, acetyl aminotransferase, and alanine aminotransferase levels were significantly higher in patients with the gene variant than in those without (p < 0.05). Leukocyte acid sphingomyelinase levels were significantly lower in patients with the gene variant than in those without (p < 0.05).
Conclusion
These results imply that the clinical and laboratory findings and some features of disease progression in patients with β-thalassemia major are similar to those of Niemann-Pick disease. They also suggest that
SMPD1
gene
c.132_143del, p.A46_L49del (c.108GCTGGC
[
4
]
(p.38AL
[
4
]
)) (rs3838786)
variant may underlie these clinical findings in patients with β-thalassemia major.</abstract><cop>Dordrecht</cop><pub>Springer Netherlands</pub><pmid>36725747</pmid><doi>10.1007/s11033-023-08275-x</doi><tpages>9</tpages><orcidid>https://orcid.org/0000-0001-9187-5387</orcidid><orcidid>https://orcid.org/0000-0002-3577-188X</orcidid><oa>free_for_read</oa></addata></record> |
| fulltext | fulltext |
| identifier | ISSN: 0301-4851 |
| ispartof | Molecular biology reports, 2023-04, Vol.50 (4), p.3355-3363 |
| issn | 0301-4851 1573-4978 |
| language | eng |
| recordid | cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_10042979 |
| source | MEDLINE; SpringerLink Journals - AutoHoldings |
| subjects | Alanine transaminase Animal Anatomy Animal Biochemistry beta-Thalassemia - genetics Biomedical and Life Sciences Blood diseases disease progression Exons Ferritin genes Histology Humans Laboratories leukocytes Life Sciences Liver Magnetic resonance imaging Morphology Mutation - genetics Niemann-Pick disease Original Original Article Sphingomyelin phosphodiesterase Sphingomyelin Phosphodiesterase - genetics sphingomyelins Thalassemia |
| title | SMPD1 gene variants in patients with β-Thalassemia major |
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