APC and Associated Diseases

Creative Biolabs is a reputable biotechnology company focused on providing cutting-edge scientific tools for gene therapy research to assist our clients to achieve remarkable breakthroughs. As a leader in the field of gene therapy, Creative Biolabs is pleased to share background information on the adenomatous polyposis coli (APC) gene.

Overview of APC

APC is defined as a tumor suppressor gene because its alteration is an early event of tumor transformation. It was first discovered in familial adenomatous polyposis (FAP) and has been proven to be related to multiple cancers. APC gene encodes a protein that acts as an antagonist of the Wnt signaling pathway. Furthermore, it is closely related to many cellular activities, including cell migration and apoptosis. APC proteins are complex proteins containing multiple functionally distinct domains.

Functions of APC. Fig.1 Functions of APC. (Schneikert, 2007)

Classification of APC Mutations

The types of APC gene abnormality mainly include missense mutations, splicing substitutions, deletions, and insertions/duplications. The majority type of APC gene mutation is point mutation. It is worth noting that deletion mutation is relatively rare. Mutations in APC were followed by some interesting results. For example, many APC mutations result in product truncations. What's more, almost all mutations occur in specific regions of the coding sequence.

APC and Associated Diseases

Diseases associated with the APC gene include FAP and gastric cancer.

Defects in APC lead to FAP, an autosomal dominant precancerous lesion that usually develops into a malignant tumor. Gardner syndrome is a form of FAP, a disease that links bowel cancer to bone tumors, determined by mutations in the APC gene. Other symptoms of the disease include dental abnormalities and various skin abnormalities. Individuals with Gardner syndrome are also at increased risk for other FAP-related cancers, such as cancers of the small intestine, stomach, pancreas, thyroid, central nervous system, and liver & bile ducts.

APC mutation is closely related to the occurrence of intestinal-type gastric cancer. Gastric cancer occurs due to abnormal and uncontrolled cell growth in the stomach. Its symptoms mainly involve indigestion, nausea, vomiting, loss of appetite, and vomiting blood. The main treatment strategies for gastric cancer include surgery, radiation therapy, and targeted therapy.

Related Mechanisms

The APC gene plays a crucial role in the downregulation of β-catenin, a transcriptional activator protein with oncogenic potential. This tumor suppressor function is altered by APC gene mutation, leading to an increased risk of tumorigenesis in various organs. Since APC is a key regulator of β-catenin, FAP patients with APC gene abnormality often experience a variety of adverse symptoms, such as osteomas and dental abnormalities. In addition, β-catenin also binds to the APC domain, resulting in the attachment of the APC domain to cell adhesion as well as cell development molecules.

With advanced technology and a professional team, Creative Biolabs is the perfect choice for your gene therapy projects. If you have any difficulties in the gene therapy project, please contact us in time for reasonable advice and customized solutions.

Reference

  1. Schneikert, J.; Behrens, J. The canonical Wnt signaling pathway and its APC partner in colon cancer development. Gut. 2007, 56(3): 417-425.
For research use only. Not intended for any clinical use.