Understanding the Mechanism of Diabetes Mellitus in a LRBA-Deficient Patient
<div><p>The scope of this study is to show that DM in a LRBA-deficient patient with a stop codon mutation (c.3999 G > A) was not mediated through autoimmunity. We have evaluated the ability of the proband’s T cells to be activated by assessing their CTLA-4 expression. A nonsignificant...
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| مؤلفون آخرون: | , , , , , , , |
| منشور في: |
2022
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| _version_ | 1864513519677865984 |
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| author | Iman Hawari (12561958) |
| author2 | Johan Ericsson (49714) Basirudeen Syed Ahamed Kabeer (9676280) Damien Chaussabel (26369) Asma Alsulaiti (18281824) Sanaa A. Sharari (18281827) Cristina Maccalli (2632465) Faiyaz Ahmad Khan (18281830) Khalid Hussain (110443) |
| author2_role | author author author author author author author author |
| author_facet | Iman Hawari (12561958) Johan Ericsson (49714) Basirudeen Syed Ahamed Kabeer (9676280) Damien Chaussabel (26369) Asma Alsulaiti (18281824) Sanaa A. Sharari (18281827) Cristina Maccalli (2632465) Faiyaz Ahmad Khan (18281830) Khalid Hussain (110443) |
| author_role | author |
| dc.creator.none.fl_str_mv | Iman Hawari (12561958) Johan Ericsson (49714) Basirudeen Syed Ahamed Kabeer (9676280) Damien Chaussabel (26369) Asma Alsulaiti (18281824) Sanaa A. Sharari (18281827) Cristina Maccalli (2632465) Faiyaz Ahmad Khan (18281830) Khalid Hussain (110443) |
| dc.date.none.fl_str_mv | 2022-04-18T03:00:00Z |
| dc.identifier.none.fl_str_mv | 10.3390/biology11040612 |
| dc.relation.none.fl_str_mv | https://figshare.com/articles/journal_contribution/Understanding_the_Mechanism_of_Diabetes_Mellitus_in_a_LRBA-Deficient_Patient/25516195 |
| dc.rights.none.fl_str_mv | CC BY 4.0 info:eu-repo/semantics/openAccess |
| dc.subject.none.fl_str_mv | Agricultural, veterinary and food sciences Agricultural biotechnology Biological sciences Biochemistry and cell biology Biomedical and clinical sciences Immunology diabetes mellitus autoimmunity LRBA CTLA-4 blood transcriptomics insulin secretion |
| dc.title.none.fl_str_mv | Understanding the Mechanism of Diabetes Mellitus in a LRBA-Deficient Patient |
| dc.type.none.fl_str_mv | Text Journal contribution info:eu-repo/semantics/publishedVersion text contribution to journal |
| description | <div><p>The scope of this study is to show that DM in a LRBA-deficient patient with a stop codon mutation (c.3999 G > A) was not mediated through autoimmunity. We have evaluated the ability of the proband’s T cells to be activated by assessing their CTLA-4 expression. A nonsignificant difference was seen in the CTLA-4 expression on CD3+ T cells compared to the healthy control at basal level and after stimulation with PMA/ionomycin. Blood transcriptomic analysis have shown a remarkable increase in abundance of transcripts related to CD71+ erythroid cells. There were no differences in the expression of modules related to autoimmunity diseases between the proband and pooled healthy controls. In addition, our novel findings show that siRNA knockdown of LRBA in mouse pancreatic β-cells leads reduced cellular proinsulin, insulin and consequently insulin secretion, without change in cell viability in cultured MIN6 cells.</p><p> </p></div><h2>Other Information</h2> <p> Published in: Biology<br> License: <a href="https://creativecommons.org/licenses/by/4.0/" target="_blank">https://creativecommons.org/licenses/by/4.0/</a><br>See article on publisher's website: <a href="https://dx.doi.org/10.3390/biology11040612" target="_blank">https://dx.doi.org/10.3390/biology11040612</a></p> |
| eu_rights_str_mv | openAccess |
| id | Manara2_2f786237eb9f3818587ad0362a053a5d |
| identifier_str_mv | 10.3390/biology11040612 |
| network_acronym_str | Manara2 |
| network_name_str | Manara2 |
| oai_identifier_str | oai:figshare.com:article/25516195 |
| publishDate | 2022 |
| repository.mail.fl_str_mv | |
| repository.name.fl_str_mv | |
| repository_id_str | |
| rights_invalid_str_mv | CC BY 4.0 |
| spelling | Understanding the Mechanism of Diabetes Mellitus in a LRBA-Deficient PatientIman Hawari (12561958)Johan Ericsson (49714)Basirudeen Syed Ahamed Kabeer (9676280)Damien Chaussabel (26369)Asma Alsulaiti (18281824)Sanaa A. Sharari (18281827)Cristina Maccalli (2632465)Faiyaz Ahmad Khan (18281830)Khalid Hussain (110443)Agricultural, veterinary and food sciencesAgricultural biotechnologyBiological sciencesBiochemistry and cell biologyBiomedical and clinical sciencesImmunologydiabetes mellitusautoimmunityLRBACTLA-4blood transcriptomicsinsulin secretion<div><p>The scope of this study is to show that DM in a LRBA-deficient patient with a stop codon mutation (c.3999 G > A) was not mediated through autoimmunity. We have evaluated the ability of the proband’s T cells to be activated by assessing their CTLA-4 expression. A nonsignificant difference was seen in the CTLA-4 expression on CD3+ T cells compared to the healthy control at basal level and after stimulation with PMA/ionomycin. Blood transcriptomic analysis have shown a remarkable increase in abundance of transcripts related to CD71+ erythroid cells. There were no differences in the expression of modules related to autoimmunity diseases between the proband and pooled healthy controls. In addition, our novel findings show that siRNA knockdown of LRBA in mouse pancreatic β-cells leads reduced cellular proinsulin, insulin and consequently insulin secretion, without change in cell viability in cultured MIN6 cells.</p><p> </p></div><h2>Other Information</h2> <p> Published in: Biology<br> License: <a href="https://creativecommons.org/licenses/by/4.0/" target="_blank">https://creativecommons.org/licenses/by/4.0/</a><br>See article on publisher's website: <a href="https://dx.doi.org/10.3390/biology11040612" target="_blank">https://dx.doi.org/10.3390/biology11040612</a></p>2022-04-18T03:00:00ZTextJournal contributioninfo:eu-repo/semantics/publishedVersiontextcontribution to journal10.3390/biology11040612https://figshare.com/articles/journal_contribution/Understanding_the_Mechanism_of_Diabetes_Mellitus_in_a_LRBA-Deficient_Patient/25516195CC BY 4.0info:eu-repo/semantics/openAccessoai:figshare.com:article/255161952022-04-18T03:00:00Z |
| spellingShingle | Understanding the Mechanism of Diabetes Mellitus in a LRBA-Deficient Patient Iman Hawari (12561958) Agricultural, veterinary and food sciences Agricultural biotechnology Biological sciences Biochemistry and cell biology Biomedical and clinical sciences Immunology diabetes mellitus autoimmunity LRBA CTLA-4 blood transcriptomics insulin secretion |
| status_str | publishedVersion |
| title | Understanding the Mechanism of Diabetes Mellitus in a LRBA-Deficient Patient |
| title_full | Understanding the Mechanism of Diabetes Mellitus in a LRBA-Deficient Patient |
| title_fullStr | Understanding the Mechanism of Diabetes Mellitus in a LRBA-Deficient Patient |
| title_full_unstemmed | Understanding the Mechanism of Diabetes Mellitus in a LRBA-Deficient Patient |
| title_short | Understanding the Mechanism of Diabetes Mellitus in a LRBA-Deficient Patient |
| title_sort | Understanding the Mechanism of Diabetes Mellitus in a LRBA-Deficient Patient |
| topic | Agricultural, veterinary and food sciences Agricultural biotechnology Biological sciences Biochemistry and cell biology Biomedical and clinical sciences Immunology diabetes mellitus autoimmunity LRBA CTLA-4 blood transcriptomics insulin secretion |