Investigation on the Effects of Modifying Genes on the Spinal Muscular Atrophy Phenotype

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dc.authoridatli, emine ikbal/0000-0001-9003-1449
dc.authoridZHURI, DRENUSHE/0000-0002-8370-1990
dc.authorwosidDemir, Selma/A-1500-2018
dc.authorwosidatli, emine ikbal/AAN-5060-2020
dc.contributor.authorZhuri, Drenushe
dc.contributor.authorGurkan, Hakan
dc.contributor.authorEker, Damla
dc.contributor.authorKaral, Yasemin
dc.contributor.authorYalcintepe, Sinem
dc.contributor.authorAtli, Engin
dc.contributor.authorDemir, Selma
dc.date.accessioned2024-06-12T11:15:30Z
dc.date.available2024-06-12T11:15:30Z
dc.date.issued2022
dc.departmentTrakya Üniversitesien_US
dc.description.abstractIntroduction Spinal muscular atrophy (SMA) is an autosomal recessive neuromuscular disorder caused by the degeneration of motor neurons, muscle weakness, and atrophy that leads to infant's death. The duplication of exon 7/8 in the SMN2 gene reduces the clinical severity of disease, and it is defined as modifying effect. In this study, we aim to investigate the expression of modifying genes related to the prognosis of SMA like PLS3 , PFN2 , ZPR1 , CORO1C , GTF2H2 , NRN1 , SERF1A , NCALD , NAIP , and TIA1. Methods Seventeen patients, who came to Trakya University, Faculty of Medicine, Medical Genetics Department, with a preliminary diagnosis of SMA disease, and eight healthy controls were included in this study after multiplex ligation-dependent probe amplification analysis. Gene expression levels were determined by real-time reverse transcription polymerase chain reaction and delta-delta CT method by the isolation of RNA from peripheral blood of patients and controls. Results SERF1A and NAIP genes compared between A group and B + C + D groups, and A group of healthy controls, showed statistically significant differences ( p = 0.037, p = 0.001). Discussion PLS3, NAIP , and NRN1 gene expressions related to SMA disease have been reported before in the literature. In our study, the expression levels of SERF1A , GTF2H2 , NCALD , ZPR1 , TIA1 , PFN2 , and CORO1C genes have been studied for the first time in SMA patients.en_US
dc.description.sponsorshipTrakya Scientific Research Projects Unit of Trakya University Faculty of Medicine [2018/326]en_US
dc.description.sponsorshipThis work was supported by the Trakya Scientific Research Projects Unit of Trakya University Faculty of Medicine (2018/326).en_US
dc.identifier.doi10.1055/s-0042-1751302
dc.identifier.endpage236en_US
dc.identifier.issn2699-9404
dc.identifier.issue3en_US
dc.identifier.pmid36071912en_US
dc.identifier.startpage226en_US
dc.identifier.urihttps://doi.org/10.1055/s-0042-1751302
dc.identifier.urihttps://hdl.handle.net/20.500.14551/23967
dc.identifier.volume9en_US
dc.identifier.wosWOS:000849909200001en_US
dc.identifier.wosqualityN/Aen_US
dc.indekslendigikaynakWeb of Scienceen_US
dc.indekslendigikaynakPubMeden_US
dc.language.isoenen_US
dc.publisherThieme Medical Publ Incen_US
dc.relation.ispartofGlobal Medical Geneticsen_US
dc.relation.publicationcategoryMakale - Uluslararası Hakemli Dergi - Kurum Öğretim Elemanıen_US
dc.rightsinfo:eu-repo/semantics/openAccessen_US
dc.subjectSpinal Muscular Atrophyen_US
dc.subjectModifying Genesen_US
dc.subjectNeuromuscular Disorderen_US
dc.subjectSMN1en_US
dc.subjectSMN2en_US
dc.subjectModifier Genesen_US
dc.subjectDisease Severityen_US
dc.subjectSmn2en_US
dc.subjectExpressionen_US
dc.subjectChildrenen_US
dc.subjectNaipen_US
dc.subjectHnrnpen_US
dc.subjectPls3en_US
dc.subjectZpr1en_US
dc.subjectH4f5en_US
dc.titleInvestigation on the Effects of Modifying Genes on the Spinal Muscular Atrophy Phenotypeen_US
dc.typeArticleen_US

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