Identification of red blood cell membrane defects in a patient with hereditary spherocytosis using next-generation sequencing technology and matrix-assisted laser desorption/ionization time-of-flight mass spectrometry

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dc.authorid0000-0002-0060-2859
dc.contributor.authorTürker Şener, Leyla
dc.contributor.authorAktan, Melih
dc.contributor.authorAlbeniz, Gürcan
dc.contributor.authorŞener, Aziz
dc.contributor.authorÜstek, Duran
dc.contributor.authorAlbeniz, Işıl
dc.date.accessioned10.07.201910:49:13
dc.date.accessioned2019-07-10T19:49:35Z
dc.date.available10.07.201910:49:13
dc.date.available2019-07-10T19:49:35Z
dc.date.issued2019
dc.departmentİstanbul Medipol Üniversitesi, Rektörlük, Rejeneratif ve Restoratif Tıp Araştırmaları Merkezi (REMER)
dc.descriptionWOS: 000465868800060
dc.descriptionPubMed ID: 30896804
dc.description.abstractHereditary spherocytosis (HS) is characterized by the morphological transformation of erythrocytes into a spherical shape due to a hereditary defect in cell membrane proteins (ghosts) associated with disruption of erythrocyte skeletal structures. Contrary to the literature, pores were detected in the erythrocytes of a patient with HS. The aim of the present study was to determine the affected proteins and genes that were responsible for the pores. Ghost isolation was performed to determine the proteins responsible for the pores observed on the erythrocytes of the patient. Erythrocyte membrane proteins were visualized using SDS-PAGE. Exome and matrix-assisted laser desorption/ionization time-of-flight mass spectrometry (MALDI TOF MS) analyses were used to identify the genes and proteins responsible for the observed defect. Quantitative protein assessments were performed using MALDI TOF MS. A difference was detected in the components of the erythrocyte membrane proteins. Band 3 and protein 4.2, which serve a particular role in membrane structure, decreased 4.573 and 4.106 fold, respectively. Through proteomic analyses, a non-synonymous exonic mutation region was identified in the Golgi membrane protein 1 (GOLM1) gene (Chr9 rs142242230). Sorting Intolerant From Tolerant and Polymorphism Phenotyping Scores, Likelihood Ratio Tests and MutationTaster revealed that the mutation was deleterious. The pores observed in the morphology of the erythrocytes may have developed due to the decrease in these proteins, which reside in the erythrocyte membrane structure. Furthermore, genetic profiling of the patient with HS and her family was conducted in the present study. Next-generation sequencing was used, and the genetic source of HS was identified as a GOLM1 gene mutation. The assessment of specific molecular defects is often not performed as the majority of mutations are unique to a family. However, molecular analyses should be performed in severe cases where prenatal diagnosis is required, or for unique HS phenotypes to aid scientific investigation.
dc.description.sponsorshipIstanbul University [35214]en_US
dc.description.sponsorshipThe present study was supported by the research fund of Istanbul University (grant no. 35214).en_US
dc.identifier.citationŞener, L. T., Aktan, M., Albeniz, G., Şener, A., Üstek, D. ve Albeniz, I. (2019). Identification of red blood cell membrane defects in a patient with hereditary spherocytosis using next-generation sequencing technology and matrix-assisted laser desorption/ionization time-of-flight mass spectrometry. Molecular Medicine Reports, 19(5), 3912-3922. https://dx.doi.org/10.3892/mmr.2019.10036
dc.identifier.doi10.3892/mmr.2019.10036
dc.identifier.endpage3922
dc.identifier.issn1791-2997
dc.identifier.issn1791-3004
dc.identifier.issue5
dc.identifier.scopusqualityQ3
dc.identifier.startpage3912
dc.identifier.urihttps://dx.doi.org/10.3892/mmr.2019.10036
dc.identifier.urihttps://hdl.handle.net/20.500.12511/1662
dc.identifier.volume19
dc.identifier.wosqualityQ3
dc.indekslendigikaynakWeb of Science
dc.indekslendigikaynakScopus
dc.indekslendigikaynakPubMed
dc.language.isoen
dc.publisherSpandidos Publ Ltd
dc.relation.ispartofMolecular Medicine Reportsen_US
dc.relation.publicationcategoryMakale - Uluslararası Hakemli Dergi - Kurum Öğretim Elemanı
dc.rightsinfo:eu-repo/semantics/openAccess
dc.subjectHereditary Spherocytosis
dc.subjectMatrix-Assisted Laser Desorption
dc.subjectIonization Time-Of-Flight Mass Spectrometry
dc.subjectNext-Generation Sequencing
dc.subjectExome Capture
dc.subjectScanning Electron Microscopy
dc.titleIdentification of red blood cell membrane defects in a patient with hereditary spherocytosis using next-generation sequencing technology and matrix-assisted laser desorption/ionization time-of-flight mass spectrometry
dc.typeArticle

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