The Genetic Landscape of Hereditary Pancreatitis: A Review
Hereditary Pancreatitis
DOI:
https://doi.org/10.1071/ejmbs.v6i1.74Anahtar Kelimeler:
Hereditary- Genetics- Mutations- Pancreatitis- VariantsÖzet
Hereditary pancreatitis, or HP, can be described as a rare genetic disorder that often presents with repeated occurrences of pancreatitis. This disorder is generally seen in children and adolescents. The genetic basis of HP has been studied in great detail, and as a result, researchers have discovered several important genes that are involved in the onset of the disease. Hereditary pancreatitis is mainly inherited through the autosomal dominant way, and the PRSS1 gene is the one that has been most often pointed out as the gene that is linked to HP. The PRSS1 gene is the one that codes for the trypsinogen enzyme. The mutations in the PRSS1 gene are probably the main factor responsible for the increased trypsin activity that is found before the manifestation of pancreatitis. In addition to PRSS1, alterations in other genes have also been revealed to be associated with HP. For instance, the SPINK1 gene, which produces the pancreatic secretory trypsin inhibitor, is also the frequently found partner with HP. Mutations found in SPINK1 can turn into an uncontrolled trypsin activity that can lead to an increased risk of pancreatitis. Mutations that are present in the CFTR gene, which is well-known in terms of its relationship with cystic fibrosis, have been shown to have a modifying effect on the risk of getting pancreatitis in individuals with HP. Certain CFTR variations, such as ΔF508 and G551D, have been linked to the development of other clinical problems. Moreover, there are some other rare genetic variants that are implied for HP and could have connections as well. It is important to understand the genetic aspect of HP for the purpose of early identification, genetic counseling, and targeted therapy development. More studies are necessary to elaborate on the complex relationship between the genetic variables and environmental factors related to the development of hereditary pancreatitis. In order to give the most precise overview of the entire literature, the semantic parsimony and eigenfactor-based query search approach were utilized.
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