Study of a Panel of Genetic Mutations in Fibrocalcific Pancreatic Diabetes (FCPD): SPINK1 (N34S) Mutation Unlikely to Be Relevant

Overview

Journal Sci Rep

Specialty Science

Date 2024 Dec 31

PMID 39738564

Authors

Vijay Budhwar

Susmita Dutta

Kaushik Pandit

Pradip Mukhopadhyay

Nitai P Bhattacharyya

Sujoy Ghosh

Affiliations

Soon will be listed here.

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.

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