分子遺伝医学

Intraductal papillary neoplasm of the pancreas (IPMN) is a frequently found, pancreatic cystic neoplasm. IPMN has relatively high malignant potential, and its therapeutic strategy is limited to surgical resection. It is well known that mutations of GNAS and KRAS play important roles in its malignant progression, but its molecular mechanisms have not been well elucidated. In this review, clinical features and molecular alterations of IPMN were summarized. Then, crosstalk between KRAS signaling and phosphatidylinositol 3-kinase (PI3K) signaling was clarified. Finally, it was indicated that the final effector of KRAS mutant IPMN could be carbon anhydrase IX (CA9), and the possibility of molecular targeted therapy against IPMN by means of CA9 inhibitors was discussed.

Inflammatory bowel disease (IBD) is a chronic autoimmune disorder that affects the gastrointestinal tract. It includes two primary forms of inflammatory bowel disease - Crohn's disease (CD) and ulcerative colitis (UC) - that share some common clinical features such as abdominal pain, diarrhea, and rectal bleeding. Although the precise etiology of IBD remains unclear, it is believed that genetic, environmental, and immunological factors play a role in the development of this condition. Recent studies have suggested that epigenetic modifications in immune cells may contribute to the pathogenesis of IBD. This article will discuss the role of immunoepigenetic regulation in the development of IBD. Epigenetic modifications are heritable changes in gene expression that do not involve alterations to the DNA sequence. Epigenetic mechanisms include DNA methylation, histone modifications, and non-coding RNA expression, all of which play important roles in the regulation of gene expression. Dysregulation of epigenetic mechanisms can lead to aberrant gene expression and contribute to the development of diseases such as cancer, autoimmune disorders, and neurodegenerative diseases. In the context of IBD, recent studies have highlighted the importance of epigenetic modifications in immune cells.

Over the past few decades, stem cell-based cardiac regeneration has emerged as a promising therapy for patients with heart failure, a condition that affects millions of people worldwide. Stem cells have the ability to differentiate into various types of cells, including heart cells, and can potentially be used to replace damaged or dead heart tissue. One of the challenges in using stem cells for cardiac regeneration is creating a suitable environment for their growth and differentiation. Traditional two-dimensional (2D) culture methods have limitations in mimicking the complex three-dimensional (3D) environment of the heart. This is where 3D organoid models come into play. Organoids are 3D structures that can be grown from stem cells, which can self-organize and differentiate into specific cell types, mimicking the structure and function of organs. In the context of cardiac regeneration, 3D organoids can be used to model heart tissue, providing a more accurate representation of the complex 3D architecture of the heart. Recent advances in 3D organoid models for stem cell-based cardiac regeneration have shown promising results. For example, researchers have been able to create 3D heart organoids from human induced pluripotent stem cells (iPSCs), which can be used for drug screening, disease modeling, and potentially for transplantation.

New A*33 allele has the closest match with HLA-A*33:03:01:01, except for a mismatch at position 270 in Exon 2. Instead of the expected T, an A was detected at this position. This information was included in the full Nomenclature report and contributed to the immunogenetic study.