Study of a panel of genetic mutations in fibrocalcific pancreatic diabetes (FCPD): SPINK1 (N34S) mutation unlikely to be relevant
Abstract Panel of known genetic mutations (SPINK1, PRSS1, PRSS2, CTRC, and CFTR) in patients with Fibrocalcific pancreatic diabetes (FCPD)compared to Type 2 Diabetes (T2DM) and healthy controls with emphasis on SPINK1 (N34S) mutations. Whole blood samples were used to detect mutations by PCR followe...
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Nature Portfolio
2024-12-01
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| Online Access: | https://doi.org/10.1038/s41598-024-83113-z |
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| author | Vijay Budhwar Susmita Dutta Kaushik Pandit Pradip Mukhopadhyay Nitai P. Bhattacharyya Sujoy Ghosh |
| author_facet | Vijay Budhwar Susmita Dutta Kaushik Pandit Pradip Mukhopadhyay Nitai P. Bhattacharyya Sujoy Ghosh |
| author_sort | Vijay Budhwar |
| collection | DOAJ |
| description | Abstract Panel of known genetic mutations (SPINK1, PRSS1, PRSS2, CTRC, and CFTR) in patients with Fibrocalcific pancreatic diabetes (FCPD)compared to Type 2 Diabetes (T2DM) and healthy controls with emphasis on SPINK1 (N34S) mutations. Whole blood samples were used to detect mutations by PCR followed by Sanger sequencing. In-silico analysis of N34S performed, to explore role in pathogenesis. Isolated SPINK1 N34S mutations found in 5.88%, 6% and 2% in FCPD, T2DM, controls respectively (p = ns). In-silico analysis of N34S variant: conflicting role. 2/51 (3.92%) SPINK1 (IVS1-37 T > C) positive, 2/51 (3.92%) SPINK1 P55S positive, 1/51 (2%) SPINK 1 (IVS3 + 2 T > C) positive and none of them SPINK1 (IV3-69insTTT) positive and none of these variants found in T2DM & healthy individuals. PRSS1, CTRC exon 2–3 mutation was found 4/51 (7.8%) and 1/51 (2%) patients of FCPD respectively. None of the patient had mutations in PRSS2, CTRC Promoter region & exon 1, CTRC exon 4–5, CTRC exon 6, CTRC exon 7–8, CFTR ΔF508, CFTR G551D, CFTR G542X, CFTR R117H and CFTR W1282X. Different variants of SPINK1, PRRS1 and CTRC were found in FCPD. Isolated SPINK1 N34S unlikely to cause disease by itself. |
| format | Article |
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| institution | Kabale University |
| issn | 2045-2322 |
| language | English |
| publishDate | 2024-12-01 |
| publisher | Nature Portfolio |
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| series | Scientific Reports |
| spelling | doaj-art-04dc166bcb5d4762956bc98d1b8c14d12025-01-05T12:24:25ZengNature PortfolioScientific Reports2045-23222024-12-0114111010.1038/s41598-024-83113-zStudy of a panel of genetic mutations in fibrocalcific pancreatic diabetes (FCPD): SPINK1 (N34S) mutation unlikely to be relevantVijay Budhwar0Susmita Dutta1Kaushik Pandit2Pradip Mukhopadhyay3Nitai P. Bhattacharyya4Sujoy Ghosh5Department of Endocrinology and Metabolism, Institute of Post Graduate Medical Education & ResearchDepartment of Endocrinology and Metabolism, Institute of Post Graduate Medical Education & ResearchDepartment of Endocrinology and Metabolism, Institute of Post Graduate Medical Education & ResearchDepartment of Endocrinology and Metabolism, Institute of Post Graduate Medical Education & ResearchDepartment of Endocrinology and Metabolism, Institute of Post Graduate Medical Education & ResearchDepartment of Endocrinology and Metabolism, Institute of Post Graduate Medical Education & ResearchAbstract Panel of known genetic mutations (SPINK1, PRSS1, PRSS2, CTRC, and CFTR) in patients with Fibrocalcific pancreatic diabetes (FCPD)compared to Type 2 Diabetes (T2DM) and healthy controls with emphasis on SPINK1 (N34S) mutations. Whole blood samples were used to detect mutations by PCR followed by Sanger sequencing. In-silico analysis of N34S performed, to explore role in pathogenesis. Isolated SPINK1 N34S mutations found in 5.88%, 6% and 2% in FCPD, T2DM, controls respectively (p = ns). In-silico analysis of N34S variant: conflicting role. 2/51 (3.92%) SPINK1 (IVS1-37 T > C) positive, 2/51 (3.92%) SPINK1 P55S positive, 1/51 (2%) SPINK 1 (IVS3 + 2 T > C) positive and none of them SPINK1 (IV3-69insTTT) positive and none of these variants found in T2DM & healthy individuals. PRSS1, CTRC exon 2–3 mutation was found 4/51 (7.8%) and 1/51 (2%) patients of FCPD respectively. None of the patient had mutations in PRSS2, CTRC Promoter region & exon 1, CTRC exon 4–5, CTRC exon 6, CTRC exon 7–8, CFTR ΔF508, CFTR G551D, CFTR G542X, CFTR R117H and CFTR W1282X. Different variants of SPINK1, PRRS1 and CTRC were found in FCPD. Isolated SPINK1 N34S unlikely to cause disease by itself.https://doi.org/10.1038/s41598-024-83113-zFCPDGenetic mutations and SPINK1 (N34S) |
| spellingShingle | Vijay Budhwar Susmita Dutta Kaushik Pandit Pradip Mukhopadhyay Nitai P. Bhattacharyya Sujoy Ghosh Study of a panel of genetic mutations in fibrocalcific pancreatic diabetes (FCPD): SPINK1 (N34S) mutation unlikely to be relevant Scientific Reports FCPD Genetic mutations and SPINK1 (N34S) |
| title | Study of a panel of genetic mutations in fibrocalcific pancreatic diabetes (FCPD): SPINK1 (N34S) mutation unlikely to be relevant |
| title_full | Study of a panel of genetic mutations in fibrocalcific pancreatic diabetes (FCPD): SPINK1 (N34S) mutation unlikely to be relevant |
| title_fullStr | Study of a panel of genetic mutations in fibrocalcific pancreatic diabetes (FCPD): SPINK1 (N34S) mutation unlikely to be relevant |
| title_full_unstemmed | Study of a panel of genetic mutations in fibrocalcific pancreatic diabetes (FCPD): SPINK1 (N34S) mutation unlikely to be relevant |
| title_short | Study of a panel of genetic mutations in fibrocalcific pancreatic diabetes (FCPD): SPINK1 (N34S) mutation unlikely to be relevant |
| title_sort | study of a panel of genetic mutations in fibrocalcific pancreatic diabetes fcpd spink1 n34s mutation unlikely to be relevant |
| topic | FCPD Genetic mutations and SPINK1 (N34S) |
| url | https://doi.org/10.1038/s41598-024-83113-z |
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