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 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-

SUBMITTER: Budhwar V 

PROVIDER: S-EPMC11686347 | biostudies-literature | 2024 Dec

REPOSITORIES: biostudies-literature